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40 Cards in this Set
- Front
- Back
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Describe maternal blood testing as a screening test
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Alpha fetoprotein for neural tube defect
H CG plasma protein a inhibin look for chromosomal abnormalities |
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Chromosomal Abnormalities screened for
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21
18-Edwards syndrome 13-pataul syndrome |
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ultrasound is used to confirm what
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Gestation
Pregnancy Site Multiple pregnancy |
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Describe an ultrasound test used for trisomy 21 and when
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Nuchal translucency between 11 and 14 weeks |
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As well as being an indicator of trisomy 21 increasednuchal translucency is also a risk factor for what abnormalities
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Cardiac
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Risk of spontaneous miscarriage in amniocentesis
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One in 100
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Amniocentesis is safest performed from what gestation
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After 15 weeks
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Amniocentesis allows for diagnosis of what
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Chromosomal abnormalities
Cytomegalovirus Toxoplasmosis Sickle-cell anaemia Thalassaemia Cystic fibrosis |
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Name an alternative to amniocentesis
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Chorionic villus sampling
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Chorionic villus sampling has what benefits over amniocentesis and what disadvantages
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The diagnostic test involving a biopsy of the trophoblast after 11 weeks fine gauge Neill it Is passed through the abdominal wall into the placenta
Result faster than amniocentesis Abortion can be performed under general anaesthetic However miscarriage rate higher than in amniocentesis |
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Chorionic villus sampling can be used to identify which disorders
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Chromosomal abnormalities
Autosomal dominant conditions Autosomal recessive condition |
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How quickly can a diagnosis be made with the above two methods
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Within 48 hours with FISH and PCR
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IVF has the benefit of allowing what kind of diagnosis to be made
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Genetic analysis on developing cells
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Chromosomal abnormalities have what incidence
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Six per 1000
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Klinefelter's syndrome is what chromosomally and present how
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46 XXY
Normal intellect Small testes Infertile |
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Signs of trisomy 21 on ultrasound
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Increased nuchal translucency
Shortage and nasal bone Tricuspid regurgitation |
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Blood test in trisomy 21 may show
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Low PAPP-A
Hi H CG Low alpha fetoprotein in the first or second trimester Low estriol Second trimester High inhibin Second trimester |
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Result for down syndrome often comes at which week
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16, Due to combination of blood and nuchal translucency
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Name two examples of neural tube defects
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Spina bifida
Anencephaly |
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Which OF THESE IS INCOMPATIBLE WITH LIFE
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Anencephaly |
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How do you stop or reduce the risk of neural tube defects
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Folic acid supplementation for three months nought .4 mg per day
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Which blood test will be raised in those affected by neural tube defects
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AFP |
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Name is another test to identify neural change defect
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Ultrasound with the sensitivity of over 95%
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What is the recurrence rate of neural tube defects
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One in 10
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What are the conditions that may occu as a result of neural tube defect
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ventriculomegaly with prognosis depending on cause and severity |
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Cardiac defects occurring what percentage of pregnancies
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One %
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Risk factors for cardiac defects in neonates
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Diabetes
Congenital cardiac disease of mother Siblings are affected recurrence rate 3% |
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Describe three medical treatments which may be given in in the uterus
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Steroids to ensure the lungs
Antiarrhythmic drugs such as digoxin Non-steroidal anti-inflammatories for polyhydramnios |
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Exomphalos is what
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Partial exclusion of the abdominal contents in a peritoneal sac
50% have a chromosomal abnormality |
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Gastroschisis is what |
Free loops of Bowel in amniotic cavity
Associated with Young mother Over 90% survive after surgery |
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diaphragmatic hernias cause what and what is the survival rate
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Abdominal contents to herniate into the chest causing pulmonary hypoplasia
Associated anomalies common 60% isolated defects survive |
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Oesophageal atresia is associated with what
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Polyhydramnios
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Duodenal atresia is associated with what
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Down syndrome
A classic double bubble sign of the stomach and dilated upper duodenum on x-ray Polyhydramnios occurs |
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Meconium ileus is common in which condition
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Cystic fibrosis
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Define fetal hydrops
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Fluid accumulates in two or more areas of the fetus this occurs in one in 500 pregnancies and has a very high mortality
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Autosomal dominant conditions are passed on what percentage
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One in 150 livebirth however is a parent is affected their 50% chance of passing on the condition
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Polyhydramnios affects what percentage of pregnancies
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One %
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Features of polyhydramnios
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Maternal discomfort
Large for dates Tight uterus Metal parts difficult to palpate |
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Complications of polyhydramnios
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Preterm labour
Maternal discomfort Abnormal lie Malpresentation |
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Can you reduce the liquor in polyhydramnios
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Yes if less than 34 weeks
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