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26 Cards in this Set
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- Back
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Paeudogout |
Pseudogout
Pseudogout is a form of microcrystal synovitis caused by the deposition of calcium pyrophosphate dihydrate crystals in the synovium. For this reason, it is now more correctly termed acute calcium pyrophosphate crystal deposition disease.
Pseudogout is strongly associated with increasing age. Patients who develop pseudogout at a younger age (e.g. < 60 years) usually have some underlying risk factor, such as: haemochromatosis hyperparathyroidism low magnesium, low phosphate acromegaly, Wilson's disease
Features knee, wrist and shoulders most commonly affected joint aspiration: weakly-positively birefringent rhomboid-shaped crystals x-ray: chondrocalcinosis in the knee this can be seen as linear calcifications of the meniscus and articular cartilage
Management aspiration of joint fluid, to exclude septic arthritis NSAIDs or intra-articular, intra-muscular or oral steroids as for gout |
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Hypercalcemia causes |
Hypercalcaemia: causes
Two conditions account for 90% of cases of hypercalcaemia: 1. Primary hyperparathyroidism: commonest cause in non-hospitalised patients 2. Malignancy: the commonest cause in hospitalised patients. This may be due to a number of processes, including; PTHrP from the tumour e.g. squamous cell lung cancer bone metastases myeloma,: due primarily to increased osteoclastic bone resorption caused by local cytokines (e.g. IL-1, tumour necrosis factor) released by the myeloma cells for this reason, measuring parathyroid hormone levels is the key investigation for patients with hypercalcaemia
Other causes include sarcoidosis other causes of granulomas may lead to hypercalcaemia e.g. tuberculosis and histoplasmosis vitamin D intoxication acromegaly thyrotoxicosis Milk-alkali syndrome drugs: thiazides calcium-containing antacids dehydration Addison's disease Paget's disease of the bone usually normal in this condition but hypercalcaemia may occur with prolonged immobilisation
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HrHPV POSITIVE |
Positive hrHPV samples are examined cytologically if the cytology is abnormal → colposcopy this includes the following results: borderline changes in squamous or endocervical cells. low-grade dyskaryosis. high-grade dyskaryosis (moderate). high-grade dyskaryosis (severe). invasive squamous cell carcinoma. glandular neoplasia if the cytology is normal (i.e. hrHPV +ve but cytologically normal) the test is repeated at 12 months if the repeat test is now hrHPV -ve → return to normal recall if the repeat test is still hrHPV +ve and cytology still normal → further repeat test 12 months later: If hrHPV -ve at 24 months → return to normal recall if hrHPV +ve at 24 months → colposcopy |
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Ovarian cancer |
Ovarian cancer
Ovarian cancer is the fifth most common malignancy in females. The peak age of incidence is 60 years and it generally carries a poor prognosis due to late diagnosis.
Pathophysiology around 90% of ovarian cancers are epithelial in origin, with 70-80% of cases being due to serous carcinomas interestingly, it is now increasingly recognised that the distal end of the fallopian tube is often the site of origin of many 'ovarian' cancers
Risk factors family history: mutations of the BRCA1 or the BRCA2 gene many ovulations*: early menarche, late menopause, nulliparity
Clinical features are notoriously vague abdominal distension and bloating abdominal and pelvic pain urinary symptoms e.g. Urgency early satiety diarrhoea
Investigations CA125 NICE recommends a CA125 test is done initially. Endometriosis, menstruation, benign ovarian cysts and other conditions may also raise the CA125 level if the CA125 is raised (35 IU/mL or greater) then an urgent ultrasound scan of the abdomen and pelvis should be ordered a CA125 should not be used for screening for ovarian cancer in asymptomatic women ultrasound
Diagnosis is difficult and usually involves diagnostic laparotomy
Management usually a combination of surgery and platinum-based chemotherapy
Prognosis 80% of women have advanced disease at presentation the all stage 5-year survival is 46%
*It is traditionally taught that infertility treatment increases the risk of ovarian cancer, as it increases the number of ovulations. Recent evidence however suggests that there is not a significant link. The combined oral contraceptive pill reduces the risk (fewer ovulations) as does having many pregnancies.
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Breast cancer |
Breast cancer: risk factors
Predisposing factors BRCA1, BRCA2 genes - 40% lifetime risk of breast/ovarian cancer 1st degree relative premenopausal relative with breast cancer (e.g. mother) nulliparity, 1st pregnancy > 30 yrs (twice risk of women having 1st child < 25 yrs) early menarche, late menopause combined hormone replacement therapy (relative risk increase * 1.023/year of use), combined oral contraceptive use past breast cancer not breastfeeding ionising radiation p53 gene mutations obesity previous surgery for benign disease (?more follow-up, scar hides lump) |
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Management of breast cancer |
Anti-oestrogen drugs
Selective oEstrogen Receptor Modulators (SERM)
Tamoxifen is a SERM which acts as an oestrogen receptor antagonist and partial agonist. It is used in the management of oestrogen receptor-positive breast cancer.
Adverse effects menstrual disturbance: vaginal bleeding, amenorrhoea hot flushes - 3% of patients stop taking tamoxifen due to climacteric side-effects venous thromboembolism endometrial cancer
Aromatase inhibitors
Anastrozole and letrozole are aromatase inhibitors that reduces peripheral oestrogen synthesis. This is important as aromatisation accounts for the majority of oestrogen production in postmenopausal women and therefore anastrozole is used for ER +ve breast cancer in this group.
Adverse effects osteoporosis NICE recommends a DEXA scan when initiating a patient on aromatase inhibitors for breast cancer hot flushes arthralgia, myalgia insomnia |
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Gonorrhoea antibiotics |
Genital system Condition Recommended treatment Gonorrhoea Intramuscular ceftriaxone Chlamydia Doxycycline or azithromycin Pelvic inflammatory disease Oral ofloxacin + oral metronidazole or intramuscular ceftriaxone + oral doxycycline + oral metronidazole Syphilis Benzathine benzylpenicillin or doxycycline or erythromycin Bacterial vaginosis Oral or topical metronidazole or topical clindamy |
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Asthma |
Patients with acute severe asthma are stratified into moderate, severe or life-threatening
Moderate Severe Life-threatening PEFR 50-75% best or predicted Speech normal RR < 25 / min Pulse < 110 bpm PEFR 33 - 50% best or predicted Can't complete sentences RR > 25/min Pulse > 110 bpm PEFR < 33% best or predicted Oxygen sats < 92% Silent chest, cyanosis or feeble respiratory effort Bradycardia, dysrhythmia or hypotension Exhaustion, confusion or coma |
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Asthma |
Patients with acute severe asthma are stratified into moderate, severe or life-threatening
Moderate PEFR 50-75% best or predicted Speech normal RR < 25 / min Pulse < 110 bpm
Severe PEFR 33 - 50% best or predicted Can't complete sentences RR > 25/min Pulse > 110 bpm
Life threatening PEFR < 33% best or predicted Oxygen sats < 92% Silent chest, cyanosis or feeble respiratory effort Bradycardia, dysrhythmia or hypotension Exhaustion, confusion or coma |
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Erythrocytosis |
Be aware that erythrocytosis may be found incidentally as a result of a full blood count (FBC) taken from a person who has not reported symptoms. The full blood count should be repeated after a minimum of one week to see whether the rise is transient. Previous results should also be rechecked to determine whether the trend was previously present. Suspect erythrocytosis in people experiencing symptoms potentially caused by hyperviscosity, including: Chest and abdominal pain. Myalgia and weakness. Fatigue. Headache — may be described as a sense of 'fullness' in the head and neck, with dizziness, and/or perspiration. Tinnitus. Blurred vision, temporary loss of vision in one or both eyes. Paresthesia. Slow mentation, sense of depersonalisation. Additional symptoms that may indicate polycythaemia vera as the cause of erythrocytosis include: Bruising. Pruritis, especially on contact with warm water. Abdominal discomfort (relating to splenomegaly). Insomnia. Vasomotor symptoms, particularly hot flushes, accompanying hyperhidrosis or night sweats. Tenderness or painful burning and/or redness of fingers, palms, heels, or toes. Note: 10–15% of people with polycythaemia vera are diagnosed following an acute thrombotic event, and 2–8% following major haemorrhage. Take a full history: Ask about/note factors which may indicate polycythaemia vera, including: Age over 40 years. Personal history of haemorrhage, thrombosis, or Budd-Chiari syndrome. Family history of polycythaemia vera. Ask about/note factors which may indicate apparent erythrocytosis, including: Obesity. Smoking. Alcohol excess. Hypertension. Use of thiazide diuretics. Ask about/note factors which may underlie secondary erythrocytosis, such as: Cardiac and respiratory symptoms or disease, smoking, and potential exposure to carbon monoxide. Excessive daytime sleepiness, snoring, sleep disturbances, and observed night-time episodes of apnoea (particularly in people who are obese or with other respiratory conditions). Previous renal transplantation. Performance enhancing drug use (testosterone, anabolic steroids or erythropoietin). Perform an examination: Note whether there is a ruddy complexion (indicative of erythrocytosis). Examine the eyes to assess whether conjunctival plethora (indicative of erythrocytosis) is present. Palpate the abdomen to elicit: Splenomegaly, which can be indicative of polycythaemia vera — however, bear in mind that a palpable spleen is present in only 40% of cases. Abdominal masses. Benign and malignant uterine, renal, and hepatic tumours, which may be palpable, can secrete erythropoietin, leading to secondary erythrocytosis. Examine the digits, measure oxygen saturation, and listen to the chest — clubbing of digits, oxygen saturation of less than 92% in room air, and/or abnormal heart or breath sounds may suggest secondary erythrocytosis caused by underlying cardiopulmonary disease. Carry out urine dipstick analysis to identify possible renal causes of secondary erythrocytosis. Consider differential diagnoses. Take blood samples (without a tourniquet if possible) for haemoglobin, mean corpuscular volume (MCV), haematocrit, white blood cell count (WBCs), platelet count, liver function tests (LFTs), urea and electrolytes, and e-GFR. The British Society for Haematology recommend that people with a persistently raised haematocrit (>0.52 in males and >0.48 in females), or with a raised red cell mass (>25% above predicted) should be investigated. A significant proportion of people with these findings will have apparent erythrocytosis (where the red cell mass is normal but the plasma volume is reduced). The results of these tests, alongside clinical judgement (based on noted signs and symptoms and the presence/absence of risk factors for apparent erythrocytosis), should; therefore, be used to determine which people require immediate additional testing. As a guide: One-off values of elevated Hct (>0.6 in males and >0.56 in females) indicate an absolute erythrocytosis and require additional investigations. Polycythaemia vera is suggested by raised white blood cell (leukocytosis) and platelet counts (thrombocytosis) in addition to a high haemoglobin and haematocrit. MCV is usually low in polycythaemia vera. LFTs are usually normal, but elevated values raise the possibility of Budd-Chiari syndrome. People exhibiting findings suggestive of polycythaemia vera should have additional investigations. Males with Hct greater than 0.52, and females with Hct greater than 0.48, with risk factors for apparent erythrocytosis or signs and symptoms suggestive of secondary erythrocytosis, and without signs or symptoms suggestive of polycythaemia vera, should be retested in two months following attempts to address apparent/secondary erythrocytosis. Repeat abnormal results should prompt additional investigations. Secondary erythrocytosis may be suggested by abnormal LFTs, if there is a hepatic tumour. Abnormal renal function can indicate secondary erythrocytosis with an underlying renal cause. Be aware that, in rare cases, a person (most commonly male) may present with 'masked' polycythaemia vera, where there is suggestive symptomatology or complications (such as unexplained thrombosis), but haemoglobin/haematocrit are clinically normal. In such cases, platelet counts are often elevated. Iron deficiency can also mask erythrocytosis — some cases of polycythaemia vera can therefore present with iron deficiency and a normal haemoglobin level. Additional investigations that may be carried out to confirm, refute, and refine a diagnosis include: Serum erythropoietin — increased serum erythropoietin suggests secondary erythrocytosis, while decreased levels suggest polycythaemia vera. Normal levels do not rule out polycythaemia vera. Serum ferritin — to screen for iron deficiency if a low MCV is found. Can support a diagnosis of polycythaemia vera in people with suggestive signs or symptoms, but clinically normal haemoglobin. JAK2 V617F mutation — where this is positive in addition to a clear clinical history and haematological features it is considered definitive of polycythaemia vera. A negative finding does not rule it out, as around 5% of cases involve other mutations. Serum uric acid (optional) — frequently elevated in polycythaemia vera. Abdominal ultrasound — to detect splenomegaly (suggestive of polycythaemia vera) where physical examination is equivocal. What else might it be?
The differential diagnosis of polycythaemia vera includes:
Essential thrombocythaemia (ET) — can be difficult to distinguish clinically from polycythaemia vera. Splenomegaly is infrequent, and JAK2 mutations are less common than in polycythemia vera. A normal erythropoietin, isolated thrombocytosis, and absence of elevated haemoglobin concentration are suggestive of essential thrombocytosis. Chronic myelogenous leukaemia (CML) — may be clinically indistinguishable from polycythaemia vera; although, thrombosis is much less common with CML. Diagnosis is confirmed by screening for Philadelphia chromosome 9;22 translocation or its fusion protein product: BCR-ABL. Congenital polycythaemia — an inherited condition which is present from birth, although symptoms may first develop during childhood or adulthood. Occurs due to a mutation in the genes encoding the erythropoietin receptor or proteins involved in the regulation of erythropoietin (EPOR, VHL, EGLN1, or EPAS1). Congenital polycythaemia can have different inheritance patterns depending on the affected gene. [M |
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Autosomal dominant Recessive |
The correct answer is b. Autosomal recessive
Below is a short overview of the types of inheritance:
X linked recessive: a gene carried on the X chromosome. It is recessive in nature which means in females two genes are required; one on each X chromosome. Males are hemizygous for the gene mutation because they have one X and one Y chromosome.
Common conditions: red green colour blindness, Duchenne’s, Becker’s, haemophilia a/b
X linked dominant: Only one gene needed on one of the X chromosomes. Conditions: Rett syndrome, Alport syndrome, x linked hypophosphataemia
Most of the autosomal recessive conditions are inborn errors of metabolism. There are of course some exceptions to this rule., however, generally, if the disease relates to an enzyme deficiency or a metabolic defect it is recessive. If the condition causes structural defects in the body it is a dominant inheritance.
Autosominal dominant conditions only require one affected gene, on one of the chromosomes to be present. A recessive condition requires both of the two genes to be present in the genotype.
Common autosomal dominant diseases: NF-1 and NF-2, Familial hypercholesterolemia, Adult polycystic kidney disease, hereditary spherocytosis, Marfan’s, Huntingdon’s, BRCA 1/2 gene, Von Willebrand disease, HNPCC.
Common autosomal recessive diseases: sickle cell, CF, tay-sachs, PKU, mucopolysaccharidoses, glycogen storage diseases.
Polygenic diseases: hypertension, diabetes, coronary heart disease, congenital hip dysplasia, cleft palate, asthma, schizophrenia. In these diseases multiple genes have been implicated in their inheritance alongside an interaction with environmental factors.
Mitochondrial diseases: mitochondrial myopathy, diabetes and deafness, Leigh syndrome. These diseases are due to an inherited mitochondrial dysfunction. Mitchondondrial DNA is only maternally inherited. |
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Peutz-jeghers syndrome |
The correct answer is e. Peutz-Jeghers syndrome (PJS)
The characteristic lesions in PJS are small bowel, histologically distinctive hamartomatous polyps (96% of PJS patients). GI symptoms commonly occur in the early teenage years and include small bowel obstruction, intussusceptions, and GI bleeding. Extra-colonic feature of PJS include the characteristic mucocutaneous pigmentation, presenting in childhood on the lips, buccal mucosa, and periorbital area.
HNPCC: affects primarily the colon but does effect extracolonic sites i.e. endometrial and small bowel. Colon cancers and polyps arise at a younger age of onset and a more proximal location compared to sporadic neoplasm. Lynch syndrome is the result of a germline mutation in a class of genes involved in DNA MMR. The Amsterdam criteria is used for diagnosis.
FAP includes the development of hundreds to thousands of colonic adenomas. Attenuated FAP is a less-severe form of the disease, characterized by an average 69% lifetime risk of colon rectal carcinoma (CRC). Upper GI lesions commonly occur in FAP.
Gardner syndrome is FAP with epidermoid cysts, osteomas, dental anomalies, and/or desmoid tumors. All FAP related conditions result from germline mutations in APC.
MAP is characterized by the presence of adenomatous polyposis of the colorectum and an increased risk of CRC. The colonic phenotype of MAP mimics attenuated FAP, including a propensity for proximal colonic. |
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Autosomal dominant |
Genetics AKT 2
The correct answer is e. Huntington’s disease
The above pattern demonstrates an autosomal dominant genetic disorder, where the condition is present multiple generations and there is a 1 in 2 chance for each child to be affected, regardless of gender.
Sickle cell disease is an autosomal recessive disorder. The parents of an affected person would need to both be carriers of a mutated gene, and typically these disorders are not seen in every generation.
Haemophilia is an X-linked recessive disorder caused by a gene mutation on the X chromosome. In males, the one altered copy on the X chromosome is sufficient to cause the condition. In females, a mutation would have to occur on both copies of the gene on the X chromosomes to cause the condition.
Cystic fibrosis is an autosomal recessive disorder. Parents of an individual with the condition must both be carriers of the altered gene. An autosomal recessive disorder is typically not seen in every generation.
Fragile X syndrome is an X-linked dominant disorder caused by a gene mutation on the X chromosome. Females can pass on this mutated gene to both male and female children. In females a mutation in just 1 of the X chromosomes is sufficient to cause the condition, and in males a mutation of the only X chromosome they receive is enough to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass the condition to their sons. |
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Polycystic kidney diseas Antenatal screening |
Amniocentesis
Antenatal care - uncomplicated pregnancy: Scenario: Antenatal care - uncomplicated pregnancy Last revised in February 2023 Covers the baseline care required for all pregnant women — for example what antenatal appointments are required, and what screening tests and lifestyle advice may be offered. Scenario: Antenatal care - uncomplicated pregnancy On this page Antenatal appointments First contact Booking appointment 16 weeks 25 weeks - for nulliparous women 28 weeks 31 weeks - for nulliparous women 34 weeks 36 weeks 38 weeks 40 weeks - for nulliparous women After 41 weeks Pre-eclampsia Lifestyle advice Dietary advice Nutritional supplements Exercise Medicines and complimentary therapies Alcohol, smoking, and recreational drugs Sexual intercourse Toxoplasmosis Travel The Healthy Start Scheme Working and maternity benefits Ultrasound scans Risks and limitations of ultrasound scans Sources of support Scenario: Antenatal care - uncomplicated pregnancy From age 18 years to 40 years (Female). Routine antenatal appointments
Nulliparous women should be offered 10 routine antenatal appointments with a midwife or doctor including a: Booking appointment. 16 week appointment (14–16 weeks). 25 week appointment. 28 week appointment. 31 week appointment. 34 week appointment. 36 week appointment. 38 week appointment. 40 week appointment. 41 week appointment (for those who have not yet given birth). Parous women should be offered 7 routine antenatal appointments with a midwife or doctor including a: Booking appointment. 16 week appointment (14–16 weeks). 28 week appointment. 34 week appointment. 36 week appointment. 38 week appointment. 41 week appointment (for those who have not yet given birth). All pregnant women should also be offered: An ultrasound scan appointment between 11+2 weeks and 14+1 weeks. An ultrasound scan appointment between 18+0 weeks and 20+6 weeks. The booking appointment should take place by 10+0 weeks of pregnancy. If the woman contacts or is referred to maternity services later than 9+0 weeks of pregnancy, she should be offered a booking appointment within 2 weeks if possible. Additional or longer antenatal appointments should be offered depending on the woman's medical, social, and emotional needs. Be aware that closer monitoring and additional support may be needed for women and their babies from some minority ethnic backgrounds and those who live in deprived areas, because they are at an increased risk of adverse outcomes. Management at each appointment depends on the stage of the pregnancy. Throughout pregnancy, patient information should be discussed and provided on: Physical and emotional changes during pregnancy. Relationship changes during pregnancy. How the woman and her partner can support each other. Resources and support for expectant and new parents. How the parents can bond with their baby and the importance of emotional attachment. A safe environment and opportunities for the woman to discuss concerns at home, domestic abuse, concerns about the birth (for example, if she previously had a traumatic birth), or mental health concerns should be provided at every antenatal appointment. How should I manage a woman at first contact?
At first contact, before the booking appointment:
Identify women who: May need additional care — refer to a specialist as appropriate. Are taking any medication (including over-the-counter drugs). If necessary, arrange for an immediate medication review. Information on use of medicines in pregnancy is available from the UK Teratology Information Service (UKTIS). Offer advice about vitamins and supplements in pregnancy, including folic acid and vitamin D. For more information, see the section on Nutritional supplements. Offer advice about lifestyle factors that may affect the pregnancy, including: Diet including how to reduce the risk of a food-acquired infection. Smoking, alcohol consumption, and recreational drug use. Advise the woman that if she wishes, her partner is welcome to attend antenatal appointments and classes with her for support. Provide information on sources of support and patient resources. How should I manage a woman at the booking appointment?
Take a history asking about: General health and wellbeing including nutrition and diet, physical activity, smoking, alcohol consumption, and recreational drug use. Obstetric history. The medical and family history of both biological parents. Previous or current mental health concerns such as depression, anxiety, severe mental illness, psychological trauma, or psychiatric treatment If there are any mental health concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression – antenatal and postnatal. Current and recent medicines (including over-the-counter medicines, health supplements, and herbal remedies) and allergies. Discuss safe use of medicines during pregnancy. Occupation — discuss any risks and concerns. For more information, see the section on work during pregnancy. Her family and home situation including: Available support network including other people who may be involved in the care of the baby. Health or other issues affecting her partner or family members that may be significant for her health and wellbeing. Domestic abuse, if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Contact details for her partner and her next of kin. Any concerns that the woman (and her partner, if present) would like to discuss. See also the section on Managing common minor ailments. Assess the woman for risk of gestational diabetes: Arrange testing for gestational diabetes for women with any of the following: Body mass index (BMI) above 30 kg/m2. Previous macrosomic baby weighing 4.5 kg or more. Previous gestational diabetes. Family history of diabetes (first degree relative with diabetes). An ethnicity with a high prevalence of diabetes. Consider further testing to exclude gestational diabetes in women who have: Glycosuria of 2+ or above on 1 occasion. Glycosuria of 1+ or above on 2 or more occasions. Women diagnosed with gestational diabetes should be offered review with the joint diabetes and antenatal clinic within 1 week. Assess the woman for risk of pre-eclampsia. Assess the woman's risk factors for pre-eclampsia. Women at risk of pre-eclampsia should be referred for consultant-led care at booking and advised on taking aspirin. For information on how to manage women at risk of pre-eclampsia and women who have hypertension (with or without proteinuria), see the CKS topic on Hypertension in pregnancy. Assess for risk of fetal growth restriction. Consider using guidance from the Royal College of Obstetricians and Gynaecologists Small-for-gestational-age fetus, investigation and management and the NHS Saving babies' lives care bundle version 2 which provide detailed information on risk factors, screening, diagnosis, and management of fetal growth restriction. Assess for risk of venous thromboembolism (VTE) at the booking appointment, and after any hospital admission or significant health event during pregnancy. Risk factors include previous VTE, thrombophilia, medical comorbidities such as cancer, heart failure; active systemic lupus erythematosus, inflammatory polyarthropathy or inflammatory bowel disease; nephrotic syndrome; type 1 diabetes mellitus with nephropathy; sickle cell disease; current intravenous drug user, obesity, older age, and smoking. Pregnant women at risk of VTE should be referred to an obstetrician for further assessment and discussion on management. For detailed information see guidance from the Royal College of Obstetricians and Gynaecologists Reducing the risk of venous thromboembolism during pregnancy and the puerperium. Assess the woman's risk of and, if appropriate, discuss female genital mutilation (FGM) in a kind, sensitive manner. Take appropriate action about risks of FGM in line with UK government guidance on Safeguarding women and girls at risk of FGM. Offer examination and investigations including: Measuring height and weight to calculate BMI. Blood pressure and urine dipstick testing to check for proteinuria. For detailed information on how to manage women who have hypertension with or without proteinuria, including indications for urgent referral, see the CKS topic on Hypertension in pregnancy. Blood tests including full blood count, blood group, and rhesus D status. If there are any medical concerns or review of long-term medicines is needed, refer to/discuss with an obstetrician. Discuss screening programmes in pregnancy including risks, benefits, and limitations — advise the woman that she can accept or decline any part of any of the screening programmes offered. Offer screening for: Infectious diseases in pregnancy including HIV, syphilis, and hepatitis B. Patient information on the NHS infectious diseases in pregnancy screening programme is available from Public Health England. Sickle cell and thalassaemia. Patient information on the NHS sickle cell and thalassaemia screening programme is available from Public Health England. Fetal anomalies. Patient information Screening tests for you and your baby is available from Public Health England. Discuss changes during pregnancy, including: How the baby develops and what to expect at each stage of the pregnancy. Physical, emotional, and relationship changes. Support between partners. Discuss staying healthy during pregnancy including: Immunization for flu, whooping cough, and other infections such as COVID-19. For more information, see the CKS topics on Immunizations - seasonal influenza and the Public Health England Green Book on immunisation against infectious disease. Patient information on Coronavirus infection and pregnancy is available from The Royal College of Obstetricians and Gynaecologists. Infections that can impact on the baby in pregnancy or during birth (such as group B streptococcus). Reducing the risk of infections. Safe use of medicines and health supplements. Mental health. Lifestyle including nutrition and diet, physical activity, smoking, alcohol consumption, and recreational drug use. Discuss how to contact the: Midwifery team, for non-urgent advice. Maternity service, for urgent concerns such as pain and bleeding. Provide information on resources and support for expectant and new parents including details of locally available antenatal classes and breastfeeding workshops. Update the woman’s antenatal records with details of history, test results, examination findings, medicines, and discussions. Consider reviewing the woman’s previous medical records if needed, including records held by other healthcare providers. How should I manage a woman at her 16 week appointment?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Measure blood pressure and carry out a urine dipstick test for proteinuria. Re-assess the risk of pre-eclampsia. Women at risk of pre-eclampsia should be under the care of a consultant obstetrician and advised on taking aspirin. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Reassess the risk of fetal growth restriction, if the woman agrees. Reassess the plan of care for the pregnancy and consider if additional care is needed. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. Discuss and give information on: Physical, emotional, and relationship changes. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Start discussing with the woman: Her birth preferences (including place and mode of birth) and the implications, benefits, and risks of these. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways and provide appropriate information and support. Update the woman’s antenatal records with details of history, test results, examination findings, medicines, and discussions. How should I manage a nulliparous woman at her 25 week appointment?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Repeat examinations and investigations including: Checking blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). Symphysis–fundal height is the distance from the lowest part of the uterus (near the pubic bone) to the highest part of the uterus, measured with a non-elastic tape measure. Detailed information on how to measure and record fetal growth using the symphysis–fundal height is given on the website of the Perinatal Institute, along with examples of fetal growth charts. If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. Discuss the baby’s movements with the woman and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Continue discussion on: Her birth preferences (including place and mode of birth) and the implications, benefits, and risks of these. Physical, emotional, and relationship changes. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways and provide appropriate information and support. Update the woman’s antenatal records with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. How should I manage a woman at 28 weeks?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression – antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Offer examination and investigations including: Measuring blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. A blood test to check full blood count, blood group, and antibodies. Offer anti-D prophylaxis to rhesus-negative women. Discuss the baby’s movements with the woman and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Advise the woman to avoid going to sleep on their back after 28 weeks of pregnancy and to consider using pillows, for example, to maintain their position while sleeping. Explain that there may be a link between going to sleep on one’s back and stillbirth in late pregnancy (after 28 weeks). Discuss and give information on: Preparing for labour and birth, including information about coping in labour and creating a birth plan. Recognizing active labour. The postnatal period, including: Caring for the new baby and feeding them. Vitamin K prophylaxis. Newborn screening. Postnatal self-care (including pelvic floor exercises). Awareness of mood changes and postnatal mental health. Continue discussion on: Physical, emotional, and relationship changes. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways and provide appropriate information and support. Update the woman’s antenatal records with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. How should I manage a nulliparous woman at 31 weeks?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Discuss the baby’s movements and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Offer examination and investigations including: Measuring blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. Continue discussion on: Physical, emotional, and relationship changes. Sleep position. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Preparing for labour and birth, including information about recognizing active labour, coping in labour, and creating a birth plan — confirm birth preferences. The postnatal period. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways and provide appropriate information and support. Reassess the plan of care for the pregnancy and update the woman’s antenatal record with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. How should I manage a woman at 34 weeks?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Discuss the baby’s movements and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Offer examination and investigations including: Measuring blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. If following a two-dose regimen of antenatal anti-D prophylaxis offer the second dose to women who are rhesus D-negative. Continue discussion on: Physical, emotional, and relationship changes. Sleep position. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Preparing for labour and birth, including information about recognizing active labour, coping in labour, and creating a birth plan — confirm birth preferences. The postnatal period. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways, and provide appropriate information and support. Reassess the plan of care for the pregnancy and update the woman’s antenatal record with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. How should I manage a woman at 36 weeks?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Discuss the baby’s movements and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Offer examination and investigations including: Measuring blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. Abdominal palpation to check the position of the baby. If breech presentation is suspected on abdominal palpation, offer an ultrasound scan to determine the presentation. For more information, see the section on Breech presentation. Continue discussion on: Physical, emotional, and relationship changes. Sleep position. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Preparing for labour and birth, including information about recognizing active labour, coping in labour, and creating a birth plan — confirm birth preferences. The postnatal period. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways, and provide appropriate information and support. Reassess the plan of care for the pregnancy and update the woman’s antenatal record with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. How should I manage a woman at 38 weeks?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Discuss the baby’s movements and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Offer examination and investigations including: Measuring blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. Abdominal palpation to check the position of the baby. If breech presentation is suspected on abdominal palpation, offer an ultrasound scan to determine the presentation. For more information, see the section on Breech presentation. Discuss prolonged pregnancy and options on how to manage this. Give the woman specific information on: The risks associated with pregnancies that last longer than 42 weeks. Options for management of prolonged pregnancy, such as a membrane sweep, induction of labour between 41+0 and 42+0 weeks, and expectant management. This may vary according to local protocols. For more information, see the National Institute for Health and Care Excellence (NICE) guidance on Inducing Labour. Continue discussion on: Physical, emotional, and relationship changes. Sleep position. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Preparing for labour and birth, including information about recognizing active labour, coping in labour, and creating a birth plan — confirm birth preferences. The postnatal period. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways, and provide appropriate information and support. Reassess the plan of care for the pregnancy and update the woman’s antenatal record with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. How should I manage a nulliparous woman at 40 weeks?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Discuss the baby’s movements and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Offer examination and investigations including: Measuring blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. Abdominal palpation to check the position of the baby. If breech presentation is suspected on abdominal palpation, offer an ultrasound scan to determine the presentation. For more information, see the section on Breech presentation. Discuss prolonged pregnancy and options on how to manage this. Give the woman specific information on: The risks associated with pregnancies that last longer than 42 weeks. Options for management of prolonged pregnancy, such as a membrane sweep, induction of labour between 41+0 and 42+0 weeks, and expectant management. This may vary according to local protocols. For more information, see the National Institute for Health and Care Excellence (NICE) guidance on Inducing Labour. Continue discussion on: Physical, emotional, and relationship changes. Sleep position. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Preparing for labour and birth, including information about recognizing active labour, coping in labour, and creating a birth plan — confirm birth preferences. The postnatal period. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways, and provide appropriate information and support. Reassess the plan of care for the pregnancy and update the woman’s antenatal record with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. How should I manage a woman with an uncomplicated pregnancy after 41 weeks?
Update the history, asking about: General health and wellbeing. If the woman has had any hospital admission or significant health event since her last appointment, assess her risk of venous thromboembolism. Medications (including over-the-counter medicines, health supplements, and herbal remedies). Mental health — if there are any concerns, discuss with/refer to an appropriate specialist. For more information, see the CKS topic on Depression - antenatal and postnatal. Domestic abuse if she is alone. If not alone, ensure that there is an opportunity to have a private, one-to-one discussion at the earliest opportunity. Any other concerns she (and her partner, if present) would like to discuss. For more information, see the section on Managing common minor ailments. Discuss the baby’s movements and ask if she has any concerns. If there are any concerns, assess her and the baby, referring to secondary care where appropriate. Advise the woman to contact maternity services at any time of day or night if she has any concerns about her baby's movements or she notices reduced fetal movements. Offer examination and investigations including: Measuring blood pressure and testing for proteinuria to screen for hypertension and possible pre-eclampsia. For information on how to manage women who are at risk of pre-eclampsia or who have hypertension with or without proteinuria, see the CKS topic on Hypertension in pregnancy. Warn the woman about the symptoms of pre-eclampsia and advise her to seek immediate advice if she develops any symptoms (including during the postpartum period). Measure and plot symphysis–fundal height (to identify small- or large-for-gestational-age infants). If there are concerns that the symphysis–fundal height is large for gestational age consider an ultrasound scan for fetal growth and wellbeing. If there are concerns that the symphysis–fundal height is small for gestational age, offer an ultrasound scan for fetal growth and wellbeing, the urgency of which may depend on additional clinical findings, for example, reduced fetal movements or raised maternal blood pressure. Abdominal palpation to check the position of the baby. If breech presentation is suspected on abdominal palpation, offer an ultrasound scan to determine the presentation. For more information, see the section on Breech presentation. Discuss prolonged pregnancy and options on how to manage this. Give the woman specific information on: The risks associated with pregnancies that last longer than 42 weeks. Options for management of prolonged pregnancy, such as a membrane sweep, induction of labour between 41+0 and 42+0 weeks, and expectant management. This may vary according to local protocols. For more information, see the National Institute for Health and Care Excellence (NICE) guidance on Inducing Labour. Continue discussion on: Physical, emotional, and relationship changes. Sleep position. Support between partners. Resources for expectant and new parents. Bonding with the baby and emotional attachment. Preparing for labour and birth, including information about recognizing active labour, coping in labour, and creating a birth plan — confirm birth preferences. The postnatal period. Ensure results of any blood or screening tests from previous appointments have been reviewed, recorded, and discussed with the woman. If there are any unexpected results from examinations or investigations, offer referral according to local pathways, and provide appropriate information and support. Reassess the plan of care for the pregnancy and update the woman’s antenatal record with details of history, test results, examination findings, medicines, and discussions. Offer additional or longer antenatal appointments if needed, depending on the woman’s medical, social, and emotional needs. Pre-eclampsia
Advise all pregnant women to seek immediate medical review if they experience symptoms of pre-eclampsia (including during the first 4 weeks postpartum), such as: Severe headache. Problems with vision, such as blurred vision, flashing lights, double vision, or floating spots. Severe pain below the ribs. Vomiting. Breathlessness. Sudden swelling of the face, hands, or feet. Risk factors for pre-eclampsia include: Previous history of pre-eclampsia or hypertension in pregnancy. Pre-existing renal disease. Autoimmune disease such as systemic lupus erythematosus or antiphospholipid syndrome. Type 1 or type 2 diabetes. Pre-existing vascular disease, such as hypertension. Nulliparity. Age 40 years or older. Pregnancy interval of more than 10 years. Body mass index 35 kg/m2 or above. Multiple pregnancy. Family history of pre-eclampsia. Emergency assessment in secondary care should be arranged for any woman in whom pre-eclampsia is suspected. Basis for recommendation What lifestyle advice should I offer to a woman with an uncomplicated pregnancy?
What dietary advice should I offer?
Advise the woman to eat a variety of foods, including: Fruit and vegetables (at least 5 portions each day). Carbohydrates, such as bread, pasta, rice, and potatoes. Protein, such as lean meat, fish, beans, and lentils. Foods rich in fibre, such as wholegrain breads, fruits, and vegetables. Dairy foods, such as milk, yoghurt, and cheese. Advise the woman to eat foods rich in: Folic acid such as green leafy vegetables, fortified breakfast cereals, and brown rice. Vitamin D such as oily fish, eggs, fortified breakfast cereals, and fortified margarine. Discuss the Healthy Start Scheme — see the section on Healthy start for more information. Advise the woman that peanuts may be eaten during pregnancy (unless allergic to them). Previous advice from the Department of Health advised that pregnant women may wish to avoid eating peanuts during pregnancy. This advice has now changed because there is no clear evidence that peanuts affect the chance of the unborn baby developing a peanut allergy. Advise the woman to avoid foods that may put her or her fetus at risk, including: Foods that may contain Listeria such as soft mould-ripened cheeses (Camembert, brie, and blue-veined cheese), unpasteurized milk or cheese, and pate (including vegetable pate). Listeria infection in pregnancy can lead to miscarriage, stillbirth, or severe illness in the newborn baby. Foods that may contain Salmonella such as uncooked or undercooked ready-prepared meals, uncooked or cured meat (including salami), and raw shellfish such as oysters. Eggs produced under the British Lion Code of Practice (stamped with the red lion) are thought to be very low risk for salmonella if eaten raw or partially cooked. Liver and liver products as these may contain high levels of vitamin A. Ingesting too much vitamin A in pregnancy can increase the risk of birth defects in the baby. Multivitamin supplements, fish liver oil supplements, or any other supplements containing vitamin A should be avoided in pregnancy. Fish containing relatively high levels of methylmercury, such as shark, swordfish, and marlin. Exposure to high levels of methylmercury in the womb can affect the nervous system of the fetus, potentially increasing the risk of learning or behavioural problems. Consumption of tuna should be limited to no more than four medium-sized cans or two fresh tuna steaks per week as tuna may contain high levels of mercury. Advise the woman on limiting caffeine intake: Caffeine intake should be limited to less than 200 mg a day as high levels of caffeine have been associated with low birth weight in the baby. Caffeine is present in coffee, tea, chocolate, and colas. The amount of caffeine in food and drink varies, but as a guide: One mug of instant coffee contains 100 mg of caffeine. One mug of filter coffee contains 140 mg of caffeine. One mug of tea contains 75 mg of caffeine. One can of cola contains up to 40 mg of caffeine. One can of 'energy' drink contains up to 80 mg of caffeine. One bar of plain chocolate contains up to 50 mg of caffeine — the caffeine content of milk chocolate is about half that of plain chocolate. Detailed patient information on diet during pregnancy is available from: The Royal College of Obstetricians and Gynaecologists — Healthy eating and vitamin supplements in pregnancy. The NHS — Healthy Start, Keeping well in pregnancy, and Start4life. Public Health Agency (Northern Ireland) – The pregnancy book. NHS Inform – Ready steady baby. What advice can I give regarding nutritional supplements?
Offer advice about vitamins and supplements in pregnancy:
Folic acid Advise the woman to take folic acid (400 micrograms per day) throughout the first 12 weeks of pregnancy (if she is not already doing so). This is to reduce the risk of neural tube defects in the baby. A higher daily dose (5 milligrams of folic acid a day) is recommended for women at a higher risk of conceiving a child with a neural tube defect including women who have previously had an infant with a neural tube defect, those taking certain antiepileptic medications, and women with diabetes, coeliac disease, sickle-cell disease, thalassaemia, or a BMI over 30 kg/m2. Vitamin D Advise the woman to take a vitamin D supplement (10 micrograms of vitamin D per day) throughout pregnancy. This is particularly important for women with darker skin, such as those of African, Afro–Caribbean, or South Asian family origin; those who have limited exposure to sunlight, such as those who are housebound or confined indoors for long periods; who cover their skin for cultural reasons. Healthy Start vitamins (containing folic acid, ascorbic acid, and vitamin D) are available for pregnant women through the Healthy Start scheme. For further information, see the section on Healthy Start. Advise the woman to: Avoid vitamin A supplementation — high levels may be teratogenic. What advice can I give regarding exercise during pregnancy?
Advise the woman:
That moderate exercise may be continued or started during pregnancy. Exercise choices should reflect activity levels pre-pregnancy and should include strength training. Vigorous activity is not recommended for previously inactive women. To avoid: Sports that may cause abdominal trauma such as contact sports, high impact sports, and falls. Scuba diving as it has been associated with an increased risk of birth defects and fetal decompression disease. What advice can I give regarding use of medicines and complementary therapies during pregnancy?
Advise the woman to check with her GP or pharmacist before taking any over-the-counter medicines. Few medicines have been established as being safe to use in pregnancy, and the potential risks and benefits of use for both mother and baby should therefore be weighed up. Paracetamol is generally considered to be safe to use during pregnancy. Pregnant women are advised to use the lowest dose of paracetamol that works, only for as long as needed. Few complementary therapies have been established as being safe during pregnancy. Herbal medicines should not be thought of as safe alternatives to conventional medicines during pregnancy as constituents may be toxic, have pharmacological activity, or be contaminated. Patient information leaflets on use of medicines in pregnancy (produced by the UK Teratology Information Service) are available on the bumps (best use of medicines in pregnancy) website. What advice can I give regarding alcohol, smoking, and recreational drugs during pregnancy?
Alcohol At the first antenatal (booking) appointment, and later if appropriate, discuss alcohol consumption. Explain that: There is no known safe level of alcohol consumption during pregnancy. Drinking alcohol during the pregnancy can lead to long-term harm to the baby. The safest approach is to avoid alcohol altogether to minimize risks to the baby. See the CKS topic on Alcohol - problem drinking for more information, if needed. Smoking If the woman or her partner smokes or has stopped smoking within the past 2 weeks, offer a referral to NHS Stop Smoking Services. For more detailed information, see the CKS topic on Smoking cessation. Recreational drugs Advise the woman that use of recreational drugs (such as cannabis, ecstasy, cocaine, and heroin) can harm their baby. Explain the importance of talking to their doctor or midwife about recreational drug use so that advice and support can be provided. Be aware that the woman may have other concerns, such as fear of professional attitudes, and the potential role of social services. Offer referral to an appropriate substance misuse service, where indicated. Explain that additional treatments may be needed to help dependent drug users stabilize or come off drugs initially. A named midwife or doctor who has specialized knowledge of, and experience in, the care of women who misuse substances should be involved — ensure the woman knows how to contact them. Care should be co-ordinated by a multidisciplinary team including obstetric departments, GPs, drug specialists, and social services. What advice can I give regarding sexual intercourse during pregnancy?
Reassure the woman that intercourse is thought to be safe during an uncomplicated pregnancy. What advice can I give on how to avoid toxoplasmosis?
Toxoplasmosis is an infection with the parasite Toxoplasma gondii. If acquired during pregnancy, toxoplasmosis can cause stillbirth, miscarriage, intracranial anomalies, visual impairment, and developmental delay. The toxoplasmosis parasite can be acquired by: Eating undercooked or uncooked meat (such as salami). Eating unwashed fruit or vegetables which may be contaminated by cat faeces. Accidental ingestion after handling cat litter faeces. Contact with lambs or sheep. Mother-to-child transmission. This occurs when primary infection occurs during pregnancy (congenital toxoplasmosis). To reduce the risk of toxoplasmosis infection, advise the woman to: Wash her hands before handling food. Thoroughly wash all fruit and vegetables, including ready-prepared salads, before eating. Thoroughly cook raw meats and ready-prepared chilled meals. Wear gloves and thoroughly wash hands after handling soil and gardening. Avoid cat faeces in cat litter or in soil. Avoid lambing or milking ewes and contact with newborn lambs. What advice can I give regarding travel during pregnancy?
Air travel — advise the woman that: There is no evidence that air travel is harmful for healthy women with an uncomplicated pregnancy. Pregnant women with certain underlying medical conditions and those who have developed a complication during pregnancy may be advised not to fly. Airlines may ask for a letter from a midwife or doctor after 27 weeks' gestation confirming the expected date of delivery and that the pregnancy is uncomplicated. Most airlines do not allow women to fly after 37 weeks. Risk of developing a deep vein thrombosis (DVT) is increased while flying (due to sitting for prolonged lengths of time). Risk is higher with longer flights and increases further if the woman has additional risk factors for DVT (such as a previous DVT or being overweight). Individual risk should be discussed with a midwife or doctor — women with additional risk factors for DVT may be advised to have heparin injections regardless of flight duration. Patient information including measures to reduce the risk of DVT Airtravel and pregnancy is available from the Royal College of Obstetricians and Gynaecologists. Car travel Advise the woman to always wear her seatbelt with the diagonal strap across her body between her breasts and with the lap belt over her upper thighs. The straps should lie above and below the bump, and not over it. Travelling abroad Advise the woman that if she is travelling abroad, she should ensure that she has: Access to medical help if required. Had any appropriate immunizations. Adequate travel insurance. A UK Global Health Insurance Card (GHIC) which will allow her to get state healthcare in Europe at a reduced cost (or sometimes for free). This does not replace travel insurance. Advise the woman that travel to some destinations, including those with Zika and malaria risk, is not advised during pregnancy and should be avoided if possible. Pregnant women are at greater risk of severe or fatal malaria. Malaria infection in pregnancy also increases the risk of serious complications including premature birth, miscarriage, and stillbirth. For more information, see the CKS topics on Malaria and Malaria prophylaxis, and the patient information leaflets from the UK teratology Service Malaria and Public Health England Malaria: information for people travelling overseas. Zika infection in pregnant women can cause serious birth defects including microcephaly. For further information see guidance from Public Health England Zika virus: travel advice and the TravelHealthPro website, and patient information from the UK Teratology Information Service Zika virus infection in pregnancy. What is the Healthy Start Scheme?
The Healthy Start Scheme is a government scheme that aims to improve the health of pregnant women and families with children aged under 4 years. It is available in England, Wales, and Northern Ireland and provides: Free vouchers or payments every 4 weeks that can be spent on cow’s milk, fresh, frozen, or tinned fruit and vegetables, infant formula milk, and fresh, dried, and tinned pulses. Free Healthy Start vitamins. To apply for the Healthy Start scheme, a paper application form can be downloaded from the Healthy Start website, or requested from a GP or Midwife. Alternatively, requests can be made via the Healthy Start helpline on 0345 607 6823. For information (including eligibility) see the Healthy start website. In Scotland the Healthy Start Scheme is not available — pregnant women and families with a child under the age of 3 years can apply for Best Start Foods instead. Best Start Foods is a prepaid card that can be used in shops or online to buy healthy foods like milk or fruit by pregnant women and families with a child under the age of 3 years. For information see the Scottish Government website Best Start Foods. What advice should I give about working and maternity benefits?
Advise that most women can continue working during pregnancy. Employers are required to assess risks which might be posed to the health and safety of pregnant women. If a significant risk is identified, steps to avoid the risk should be taken, such as: Adjusting working conditions or hours to remove the risk. If this is not possible, suitable alternative work on the same terms and conditions should be given. If this is not possible, suspension on paid leave should be arranged for as long as necessary to protect the health and safety of her and her child. Examples of occupations where it is not advisable for the woman to continue working include occupations that require scuba diving and working with hazardous substances such as lead. For more detailed information and advice, see the: Health and Safety Executive website. Royal College of Occupational Physicians website. Advise the woman about her employment rights. Pregnant women have a right to: Paid time off for antenatal care — this is not just for medical appointments, it can also include antenatal or parenting classes if they’ve been recommended by a doctor or midwife. Maternity leave — 26 weeks of ordinary maternity leave and 26 weeks of additional maternity leave, making 1 year in total (if they work for an employer). Maternity leave may be taken no matter how long the woman has been with an employer, how many hours she works, or how much she is paid. She may be entitled to take some of this leave as Shared Parental Leave. A woman is not legally permitted to return to employment in the 2 weeks following childbirth (or 4 weeks if they work in a factory). Maternity pay or maternity allowance. Protection against unfair treatment, discrimination, or dismissal. Up-to-date detailed information on maternity rights and benefits is available from www.gov.uk: Pregnant employees' rights. Maternity pay and leave. Basis for recommendation When are ultrasound scans offered and for what purpose?
During the course of an uncomplicated pregnancy, at least two ultrasound scans are usually offered: A dating scan (11+2 to 14+1 weeks). The purpose of this scan is to: Determine gestational age. Detect multiple pregnancies. Confirm viability. Detect any fetal abnormalities that might be visible early in pregnancy (such as anencephaly). Provide a component of screening for Down's syndrome, Edwards’ syndrome, and Patau’s syndrome (if the woman chooses to be screened). A fetal anomaly scan (18+0 to 20+6 weeks). The purpose of this is to locate the placenta, assess amniotic fluid, and identify 11 specified conditions that: Benefit from treatment before or after birth. Need treatment in a specialist setting after birth to improve health outcomes. Could mean the baby may die shortly after birth. Lead to a discussion about the options of continuing or terminating the pregnancy. Patient information on antenatal screening is available from Public Health England: Screening tests for you and your baby. Pregnancy dating scan. 20-week screening scan. 11 physical conditions. Additional ultrasound scans may be offered if: There are concerns with the progress of the pregnancy for example if symphysis–fundal height is small or large for gestational age. Breech presentation is suspected (after 36+0 weeks). A complication of pregnancy develops. What advice can I give regarding the risks and limitations of a fetal anomaly scan?
Advise the parents that: There are no known risks of an ultrasound scan; it is thought to be safe for the mother and baby. At the fetal anomaly scan, the sonographer looks specifically for 11 conditions in the baby that are associated with mortality (for example anencephaly), morbidity (for example serious heart defects), or require immediate postnatal support (for example spina bifida). A fetal anomaly scan is not perfect, does not have a 100% detection rate, and inevitably some conditions will be missed or misidentified. This means that there is a chance that a baby may be born with a condition that could not be seen on scan. If a screening scan identifies a potential fetal abnormality, they will be offered referral to a fetal medicine specialist for a second opinion to confirm the diagnosis. Screening is their choice and they do not have to have the scan. Some people want to find out if their baby has one of the 11 physical conditions and some do not. If they choose to have the scan, they may need to make important personal decisions based on the results. Whatever they decide, they will be supported by their healthcare team. Detailed patient information on antenatal screening, including risks and benefits, is available from Public Health England: Screening tests for you and your baby. 20-week screening scan. 11 physical conditions. Basis for recommendation Information and support
Resources and support for expectant and new parents are available from: The NHS — Healthy Start and Start4life. Public Health Agency (Northern Ireland) — The pregnancy book 2021. NHS Inform (Scotland) — Ready steady baby. The Royal College of Obstetricians and Gynaecologists — patient information leaflets. The UK Teratology Information Service (UKTIS) — bumps (best use of medicines in pregnancy) patient information leaflets. For information on mental health during pregnancy, postnatal self-care, and awareness of baby blues and postnatal depression, see the CKS topic on Depression - antenatal and postn |
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Breast cancer |
Breast cancer - managing FH: Summary A family history of breast cancer is a strong risk factor for developing the disease. The risk increases with the number of relatives affected and the age at diagnosis of the relative (the younger the age of diagnosis the greater the risk), and is modified by other breast cancer risk factors, including age at menopause, parity, oral contraception, hormone replacement therapy (HRT), and breastfeeding. People without a personal history of breast cancer can be managed in primary care if they have only one first-degree relative (mother, father, daughter, son, sister, or brother) or second-degree relative (grandparents, grandchildren, aunt, uncle, niece, nephew, half-sister, or half-brother) diagnosed with breast cancer when over 40 years of age, provided that none of the following are present in the family history: Bilateral breast cancer. Male breast cancer. Ovarian cancer. Jewish ancestry. Sarcoma in a relative younger than 45 years of age. Glioma or childhood adrenal cortical carcinomas. Complicated patterns of multiple cancers at a young age. Two or more relatives with breast cancer on the father's side of the family. Secondary care referral is indicated for people without a personal history of breast cancer who have any of the following: One first-degree female relative diagnosed with breast cancer under the age of 40 years. One first-degree male relative diagnosed with breast cancer at any age. One first-degree relative with bilateral breast cancer where the first primary was diagnosed under the age of 50 years. Two first-degree relatives, or one first-degree and one second-degree relative, diagnosed with breast cancer at any age. One first-degree or second-degree relative diagnosed with breast cancer at any age and one first-degree or second-degree relative diagnosed with ovarian cancer at any age (one of these should be a first-degree relative). Three first-degree or second-degree relatives diagnosed with breast cancer at any age. Specialist advice should be sought if: Any of the following are present in the family history in addition to breast cancers in relatives not fulfilling the above criteria: bilateral breast cancer, male breast cancer, ovarian cancer, Jewish ancestry, sarcoma in a relative younger than 45 years of age, glioma or childhood adrenal cortical carcinomas, complicated patterns of multiple cancers at a young age, and two or more relatives with breast cancer on the father's side of the family. There is uncertainty about whether or not to refer. The person is not sufficiently reassured by the information provided. If a faulty gene (for example BRCA1 or BRCA2) has been identified in the family, direct referral to a specialist genetics service should be offered. Appropriate information and support should be provided to the person, including: Information on breast cancer risk, breast awareness, and the NHS Breast Screening Programme. Lifestyle advice regarding breast cancer risk, including advice on alcohol, weight, physical exercise, and smoking cessation (where appropriate). Advice on hormonal contraception and HRT. |
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Wilsons disease |
Wilson’s disease Is a rare autosomal recessive disorder that causes liver disease through excess deposition of copper in the hepatocytes. It also affects the basal ganglia and eyes. |
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Genetics inheritance patterns |
Pattern Characteristics Disease Examples Autosomal Dominant Each affected person usually has an affected parent; occurs in every generation Huntington’s disease, neurofibromatosis, achondroplasia, familial hypercholesterolemia Autosomal Recessive Both parents of an affected person are carriers; not typically seen in every generation Tay-Sachs disease, sickle cell anemia, cystic fibrosis, phenylketonuria (PKU) X-linked Dominant Females are more frequently affected because all daughters and no sons of an affected man will be affected; can have affected males and females in same generation if the mother is affected Hypophatemic rickets (vitamin Dresistant rickets), ornithine transcarbamylase deficiency X-linked Recessive Males are more frequently affected; affected males often present in each generation Hemophilia A, Duchenne muscular dystrophy Mitochondrial Can affect both males and females, but only passed on by females because all mitochondria of all children come from the mother; can appear in every generation Leber’s hereditary optic neuropathy, Kearns-Sayre syndrome |
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Hypermobility |
Developmental rheumatology in children: Scenario: Hypermobility in children Last revised in May 2019 Covers when to consider community management or specialist referral for a child with hypermobility. Scenario: Hypermobility in children On this page Hypermobility Scenario: Hypermobility in children From birth to 16 years. When should I consider referring a child with hypermobility?
Management in the community (for example by a physiotherapist or podiatrist with paediatric expertise) is usually appropriate for a child with hypermobility if all of the following are present: The child is well with no red flag features. There is: No pain. No functional impairment. No suggestion of underlying conditions associated with hypermobility. Consider referring children with hypermobility for specialist assessment, using clinical judgement to determine the urgency, if any of the following are present: Red flag features are present. There is diagnostic uncertainty. They have: Severe hypermobility that impacts on daily activities and mobility (for example subluxation/dislocation). Asymmetrical joint involvement. Acute or single joint soft-tissue injury as a result of repetitive strain. Fine motor difficulties. Fatigue or hand pain with functional tasks (for example handwriting, playing musical instruments). Cardiovascular, respiratory, and ocular features of connective tissue disorders such as Marfan's syndrome, Ehlers-Danlos, and osteogenesis imperfecta. Thin, translucent skin, lack of subcutaneous fat, and easy bruising (this group may be at increased risk of mortality due to vascular fragility and complications such as stroke, aortic dissection, and bowel rupture). Family history of sudden early death from aortic aneurysmal dissection/rupture (suggestive of Marfan's syndrome), or spontaneous arterial rupture or uterine rupture in childbirth (suggestive of vascular type Ehlers-Danlos syndrome). Symptoms that do not improve with rest, and resting leads to 'gelling' or stiffness (indicative of an inflammatory condition). |
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Becker muscular dystrophy |
Diagnosis
The dystrophinopathies cover a spectrum of X-linked muscle disease that ranges from mild to severe and includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy (DCM).
Suggestive Findings
A dystrophinopathy should be suspected in an individual with the following clinical and laboratory test findings that support the diagnosis of DMD, BMD, or DMD-associated DCM – especially when they occur in addition to a positive family history compatible with X-linked inheritance. Findings are most commonly noted in males, but females may also be affected.
Clinical Findings
Duchenne muscular dystrophy (DMD)
Progressive symmetric muscle weakness (proximal > distal) often with calf hypertrophy Symptoms present before age five years Wheelchair dependency before age 13 years Becker muscular dystrophy (BMD)
Progressive symmetric muscle weakness (proximal > distal) often with calf hypertrophy; weakness of quadriceps femoris in some cases the only sign Activity-induced cramping (present in some individuals) Flexion contractures of the elbows (if present, late in the course) Wheelchair dependency (after age 16 years); although some individuals remain ambulatory into their 30s and in rare cases into their 40s and beyond Preservation of neck flexor muscle strength (differentiates BMD from DMD) Note: The presence of fasciculations or loss of sensory modalities excludes a suspected diagnosis of a dystrophinopathy. Individuals with an intermediate phenotype (outliers) have symptoms of intermediate severity and become wheelchair dependent between ages 13 and 16 years.
DMD-associated dilated cardiomyopathy (DCM)
DCM with congestive heart failure, with males typically presenting between ages 20 and 40 years and females presenting later in life Usually no clinical evidence of skeletal muscle disease; may be classified as "subclinical" BMD Rapid progression to death in several years in males and slower progression over a decade or more in females [Beggs 1997] See also Dilated Cardiomyopathy Overview. |
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Becker muscular dystrophy |
Diagnosis
The dystrophinopathies cover a spectrum of X-linked muscle disease that ranges from mild to severe and includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy (DCM).
Suggestive Findings
A dystrophinopathy should be suspected in an individual with the following clinical and laboratory test findings that support the diagnosis of DMD, BMD, or DMD-associated DCM – especially when they occur in addition to a positive family history compatible with X-linked inheritance. Findings are most commonly noted in males, but females may also be affected.
Clinical Findings
Duchenne muscular dystrophy (DMD)
Progressive symmetric muscle weakness (proximal > distal) often with calf hypertrophy Symptoms present before age five years Wheelchair dependency before age 13 years Becker muscular dystrophy (BMD)
Progressive symmetric muscle weakness (proximal > distal) often with calf hypertrophy; weakness of quadriceps femoris in some cases the only sign Activity-induced cramping (present in some individuals) Flexion contractures of the elbows (if present, late in the course) Wheelchair dependency (after age 16 years); although some individuals remain ambulatory into their 30s and in rare cases into their 40s and beyond Preservation of neck flexor muscle strength (differentiates BMD from DMD) Note: The presence of fasciculations or loss of sensory modalities excludes a suspected diagnosis of a dystrophinopathy. Individuals with an intermediate phenotype (outliers) have symptoms of intermediate severity and become wheelchair dependent between ages 13 and 16 years.
DMD-associated dilated cardiomyopathy (DCM)
DCM with congestive heart failure, with males typically presenting between ages 20 and 40 years and females presenting later in life Usually no clinical evidence of skeletal muscle disease; may be classified as "subclinical" BMD Rapid progression to death in several years in males and slower progression over a decade or more in females [Beggs 1997] See also Dilated Cardiomyopathy Overview. |
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Kleinfelter syndromes |
The correct answer is b. 47 XXY
This patient has Kleinfelter’s syndrome which has the karyotype 47 XXY. This occurs when there is an error in either sperm or egg production resulting in one gamete having an extra copy of an X chromosome. At conception this results in sex chromosome trisomy. Kleinfelter’s can be diagnosed around the time of puberty as it causes small testicles, reduced pubic and facial hair and/or breast tissue development. This is due to primary testosterone failure and therefore testosterone replacement is the mainstay of treatment although this does not correct infertility. Kleinfelter’s is most often diagnosed during investigations for infertility or as a result of antenatal amniocentesis for a separate indication. The condition can also cause difficulties with coordination, attention, behaviour and learning but in the majority of cases people live independently, form relationships and work in normal occupations with a normal lifespan.
The karyotype 45 XO is Turner’s syndrome which produces a female phenotype. The karyotype 47 XX+21 is Down’s syndrome which is usually diagnosed soon after birth and is characterised by a typical facial appearance and learning disability. The karyotype 47 XYY is Jacob’s syndrome who have normal sexual development and fertility. The karyotype 46 XX is a normal female karyotype. |
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X link recessive |
X link recessive haemophilia Males affected females carrier |
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X link recessive |
X link recessive haemophilia Males affected females carrier |
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Von williebrand disease |
Coagulation disorders
Coagulation disorders are caused by a reduction or inhibition of circulating clotting factors, and may be inherited or acquired. Be aware that a negative family history does not exclude a genetically inherited disorder. Coagulation disorders leading to easy bruising include: Haemophilia A (factor VIII deficiency) and haemophilia B (factor IX deficiency) These are X-linked conditions, affecting 1 in 5000 males and 1 in 30,000 females, respectively. The most severe forms occur almost exclusively in males. One third of cases arise secondary to new genetic mutations, where there will be no family history. Rarely female carriers can be affected, for example if there is consanguinity or Turner syndrome. Presents in 90% of people with severe disease by 1 year of age. Features depend on the level of clotting activity, and include spontaneous haemarthrosis, especially of the knees, ankles, and elbows; and muscle haematomas in severe haemophilia. Increased or delayed bleeding with injury or post-operatively is typical of milder disease. Impaired synthesis of clotting factor due to liver disease May be caused by drugs such as alcohol. Vitamin K deficiency This can result in functional deficiencies of factors II, VII, IX, and X, and proteins C and S, and can cause bleeding in an infant in the first weeks of life, when it is known as haemorrhagic disease of the newborn (HDN). HDN is more prevalent in exclusively breastfed babies, and those with an inadequate or omitted dose of prophylactic vitamin K after birth. Bleeding can vary from bruising or petechiae in the first few days of life through to severe and life-threatening intracranial haemorrhage and/or gastrointestinal bleeding. Vitamin K deficiency can also occur due to malnutrition, and in older children and adults as a result of malabsorption caused by conditions such as coeliac disease or inflammatory bowel disease. Von Willebrand disease (VWD) The most common inherited coagulation disorder, with an incidence of up to 1% in the general population. Inherited as an autosomal dominant disorder (equally common in males and females). A clear family history is not always evident as there may be incomplete penetrance and variable expression, and new mutations occur. Typically presents with mild to moderate mucocutaneous bleeding, such as nosebleeds, menorrhagia, or prolonged bleeding after surgical incisions or dental procedures. Women with VWD are five times more likely to have menorrhagia than those without the condition. It is usually a mild condition with an excellent prognosis. Amyloidosis Abnormal bleeding is sometimes observed in people with immunoglobulin light chain (AL) amyloidosis. Underlying mechanisms are thought to include prolonged prothrombin time, elevated plasmin-α2-antiplasmin complex, and factor X deficiency. |
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Anti phospholipid syndrome |
What is antiphospholipid syndrome?
Antiphospholipid syndrome is an acquired autoimmune disorder characterised by recurrent arterial or venous thrombosis and/or pregnancy losses, in the presence of persistently elevated levels of anticardiolipin antibodies and/or evidence of circulating lupus anticoagulant (these abnormalities are detected by blood tests). Antiphospholipid syndrome can be primary or secondary.
Primary antiphospholipid syndrome occurs when there is no evidence of associated diseases. Secondary antiphospholipid syndrome is associated with an underlying disease, usually systemic lupus erythematosus, and drugs, including levamisole-adulterated cocaine. Seronegative antiphospholipid-like syndrome is a similar disease where antiphospholipid antibodies are not detected.
What is the cause of thrombosis in antiphospholipid syndrome?
The mechanisms resulting in a hypercoagulable state and recurrent thrombosis are not yet defined. Complement activation is involved. The 'two-hit' theory has associated the onset of thrombosis with increasing age, hypertension, diabetes, obesity, smoking, pregnancy, surgery, and other genetic hypercoagulable states.
Who gets antiphospholipid syndrome?
Antiphospholipid syndrome is generally diagnosed in young to middle-aged adults. However, it can affect children and adults of all ages.
Secondary antiphospholipid syndrome is more common in females than in males, most likely because systemic lupus erythematosus and other connective tissue disorders have a female predominance.
Patients have a history of spontaneous miscarriage, deep vein thrombosis (DVT), pulmonary embolism, myocardial infarction, or stroke.
What are the signs and symptoms of antiphospholipid syndrome?
To classify as antiphospholipid syndrome a patient must have at least one of the two following clinical manifestations in addition to the presence of certain laboratory abnormalities.
Venous or arterial thrombosis: this may involve the cerebral vascular system, coronary arteries, pulmonary emboli or thromboses, hepatic or renal veins, ocular veins or arteries Recurring miscarriages or premature births: patients may have pre-eclampsia in pregnancy and babies may be unexpectedly small Antiphospholipid syndrome Livedo racemosa Splinter haemorrhages Splinter haemorrhages Cholesterol emboli Cholesterol emboli Other symptoms are not part of the classification criteria.
Skin disorders in antiphospholipid syndrome
Livedo reticularis affects up to 80% of people with antiphospholipid antibodies. Other features include:
Splinter haemorrhage (one or more red or black streaks on a nail) Leg ulcers, both arterial and venous ulcers Superficial thrombophlebitis Blue toe syndrome Vasculitis involving medium-sized and small vessels Neurological defects in antiphospholipid syndrome
Migraine headaches Seizures Stroke Multi-infarct dementia Cardiac abnormalities in antiphospholipid syndrome
Heart murmur Cardiac valve vegetations Eye disorders in antiphospholipid syndrome
Blindness Blood abnormalities in antiphospholipid syndrome
Thrombocytopenia (low platelet count) Haemolytic anaemia (low red cell count due to the destruction of the cells by antibodies) Catastrophic antiphospholipid syndrome refers to blockage of blood vessels in multiple organs, which may occur over days or weeks. The condition is serious and often lethal.
How is antiphospholipid syndrome diagnosed?
The antiphospholipid syndrome has various clinical manifestations and is associated with a range of autoantibodies. In 2006, revised criteria for the diagnosis of antiphospholipid syndrome stated that at least one clinical criterion and one laboratory criterion must be present [1]. The name 'lupus anticoagulant' is misleading because not all patients with a positive result have systemic lupus erythematosus, and the antiphospholipid syndrome is associated with increased blood clotting rather than increased bleeding.
Laboratory tests detect antiphospholipid antibodies or abnormalities in phospholipid-dependent tests of blood clotting (coagulation). Patients with suspected antiphospholipid syndrome should be tested for the following:
aCL antibodies Anti-beta-2 glycoprotein I antibodies Activated partial thromboplastin time (aPTT) LA tests such as dilute Russell viper venom time (DRVVT) Syphilis (false-positive serology) Complete blood cell count (thrombocytopenia, Coombs-positive haemolytic anaemia) What treatment is available for antiphospholipid syndrome?
The main aim of treatment is to prevent the clinical manifestations of antiphospholipid syndrome. Risk factors for thrombosis should be identified and removed or corrected:
Encourage smoking cessation Avoid oral contraceptives Identify and treat high blood pressure and elevated blood fats. Antiplatelet drugs such as low-dose aspirin may be useful.
There is no specific treatment for antiphospholipid syndrome. Signs and symptoms are treated as they occur. For example, thrombosis or embolism is treated with the anticoagulants heparin and warfarin. |
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Cystic fibrosis |
How should I assess and manage a couple's risk of having a baby with an inherited genetic disorder?
Take a history to identify potential factors increasing genetic risks to a mother or baby. Enquire about: Family history of genetic conditions for the woman and, if possible, her partner (for example spinal muscular atrophy, cystic fibrosis, haemoglobinopathies, Fragile X syndrome, or Tay-Sachs disease). Ethnic background, for example: Cystic fibrosis is more common in people of Northern European descent. Sickle cell disease is more common in people of African descent. Alpha thalassaemia is more common in people of Southeast Asian, African, West Indian, and Mediterranean descent. Beta thalassaemia is more common in people of Mediterranean, Asian, Middle Eastern, Hispanic, and West Indian descent. Tay-Sachs disease is more common in people of Ashkenazi Jewish, French-Canadian, or Cajun descent. Consanguinity (the couple are second cousins or closer in family relationship). Obstetric history including pregnancy losses and congenital abnormalities. Seek specialist advice or consider referral to a healthcare provider with genetics expertise for couples with: A personal or family history of an inherited genetic disorder. A previous pregnancy affected by an inherited genetic disorder. Consanguinity. Recurrent pregnancy losses. For more information, see the CKS topic on Miscarriage. |
