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12 Cards in this Set

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Components of pre-conception counselling

- smoking cessation


- alcohol reduction/cessation


- STI screening


- vaccination


- folic acid and iodine supplementation


- nutrition and weight assessment


- medication


- oral health


- review of chronic medical conditions

Screening for down syndrome

All pregnant women:


- combined maternal serum screening + USS in first trimester


(free beta HcG, PAPP-A at 10-12 weeks and nuchal transleucency on USS at 11 weeks 3 days to 13 weeks 6 days)


- maternal serum screening in second trimester (alpha foetoprotein, free beta HcG, oestriol and inhibin A)


- non-invasive perinatal test (NIPT)



At risk women:


- women who have had a previous child with down syndrome


- positive screening (above)


- parent with known chromosomal defect



- need foetal diagnostic counselling

Screening for fragile X syndrome

those at increased risk:


- developmental delay or intellectual impairment


- autistic-like features


- relative with fragile X


- ADHD-like syndrome


- speech and language problems


- social and emotional problems


- premature ovarian failure


- premature menopause (<40) in women



tests:


- refer for genetic counselling


- karyotyping and comparative genomic hybridisation with microarray



- can be done at any age for diagnosis

those at increased risk


screening methods

Testing for haemoglobinopathies and thalassaemias

- Hb electrophoresis


- test for MCV, MCH and ferritin levels


- blood for DNA studies



- if MCV < 80 and/or MCH < 27 with abnormal Hb electrophoresis studies, test partner

Familial hypercholesterolaemia

Those at risk:


- total cholesterol > 7.5 or family member with total cholesterol > 7.5


- tendon xanthomata


- IHD at < 55 years of age and women < 60 or family history of the same



Assess risk using the dutch lipid clinic network criteria (DLCN) or modified UK Simon Broome criteria (MUKSB)


- refer if > 3 on DLCN or if MUKSB suggests FH

Hereditary haemochromatosis

those with a positive family history (both symptomatic and asymptomatic)


- genetic testing for HFE for those aged > 18 years + transferrin saturation and transferrin levels

newborn screening tests/preventative interventions

- administration of vitamin K at birth


- hepatitis B vaccination


- newborn hearind test


- examination of the newborn



discuss with parents:


- passive smoking


- risk of SIDS


- use of restraints in vehicles


- parental coping strategies


Preventative activites for 45-49 year olds

ask


- family history (questionnaire)


- SNAP (smoking, nutrition, alcohol, physical activity)


- symptoms of depression


- early signs of skin cancer


measure


- BP, height, weight, BMI, waist circumference


- fasting lipids


perform


- cervical screening


- breast screening (according to risk)


- pneumococcal vaccination (for ATSI groups)


calculate


- AUSDRISK


- absolute CV risk


- risk of fracture in women


ask


measure


perform


calculate

preventative activites for 50-64 year olds

ask


- symptoms of depression


- family history questionnaire


- early signs of skin cancer


- SNAP (smoking, nutrition, alcohol, physical activity)


measure


- BP, height, weight, BMI, waist circumference


- fasting lipids


perform


- cervical screening


- breast screening


- colorectal screening (FOBTs)


- ADT vaccinations


- pneumococcal vaccination (for ATSIs)


calculate


- AUSDRISK


- absolute CV risk


- fracture risk (women >45 and men >50)

ask


measure


perform


calculate

risk factors for dementia

- multiple CV risk factors


- history of depression


- down syndrome


- family history of dementia


- multiple head injuries


- low level of education


- ATSI

prevention of STIs - general principles

- people < 29 years of age who are sexually active should be screened anually for chlamydia


- MSM should be screened annually for: chlamydia, gonorrhoea, HIV and syphillis


- if risk of IVDU screen for hepatitis C


- if ATSI: schlamydia, gomorrhoea, syphillis + serology for HIV and syphillis, Hep A and B serology if not vaccinated and offer vaccination

indications for a 'kidney check'

- diabetes


- hypertension


- family history of renal disease


- obesity


- ATSI > 30


- smoking


- known cardiovascular disease