Genomic medicine Flashcards
Down syndrome risk by age
20yo = 1/1500
30yo = 1/800
40 = 1/100
Down syndrome screening
Combined test: 11-14 weeks gestation - nuchal translucency (USS) (included edwards, patau also)
Quadruple test: 14-20 weeks gestation - only if nuchal translucency no possible
If above POSITIVE - for diagnostic testing
- Chorionic villous sampling - at 11-14 weeks
- Amniocentesis - at 15 weeks
Downs syndrome
An extra chromosome. Likely to have learning difficulty. Also effects on the heart and risk of diabetes.
Often personalities are warm, cheerful and gentle.
10 times the chance of having another child with Downs
Cystic fibrosis diagnosis
Def: inherited condition that leads to sticky mucus within lungs and digestive system.
Heel prick blood spot test - part of new born screening
If POS for further tests:
- Sweat test -
- Genetic test - blood or saliva
Genetic testing - can be useful to assess carrier status eg planning pregnancy - CF is autosomal recessive. 1 in 25 chance of general population having the faulty gene.
CF - inherited condition in which there is a build up of mucus. In the lungs, pancreas and reproductive organs. Leading to increase chest infections, poor digestion and subfertility.
Familial Adenomatous Polyposis Screening
Def: hundreds of polyps within the gut. Can turn cancerous if untreated.
Regular colonoscopies from age 12
Gastroscopy from age 25
Blood testing for APC gene
Breast Cancer risk factors
lifestyle - alcohol, smoking, overweight
Fhx - jewish
hormonal - early menarche, nulliparous or late pregnancy, OCP or HRT, limited or no breast feeding
Genetics - BRCA1, BRCA 2, or TP53
Breast screening
Invited every 3 years from age 50-71
mammogram - an x ray of the breast tissue
Specialist referral for familial breast cancer but no personal history of breast cancer criteria
Female breast cancer
- 1st degree relative <40yo at diagnosis
- 2 or more 1st degree relatives of any age at diagnosis
Male breast cancer
- 1st degree relative of any age
Bilateral breast cancer
- 1st degree relative < 50 yo at diagnosis
Breast and ovarian Ca
- 1st degree relative
HOCM
Definition: abnormal size of left ventricle of heart with filling impairment leading to inefficiency.
- usually autosomal dominant - if present, child has 50% chance of inheritance
Sx - Asymptomatic (most common), angina, dyspnoea, palpitations, syncope
Ix/
ECG, CXR, Echo, 24hr tape
Familial adenomatous polyposis
Familial means it can run in families, adenoma is the tissue in the gut, polyps are lumps within the bowels - these can turn cancerous
complications - obstruction, colorectal ca
Polycystic kidneys
Poly means many, cysts are fluid filled sacs, kidneys make urine from body waste
autosomal dominant inheritance
complications - recurrent infections, stones, renal failure may need dialysis
immunisations - annual
pneumococcus and influenza vaccines
Ix/
bloods, USS - refer to nephrology
Thrombophilia (eg factor V Leiden)
Blood has an increased tendeny to form clots - eg pulmonary embolism (in the lung) or stroke (in brain)
complications
- dvt, pe, stroke, recurrent miscarriage
Ix/
Screening blood test (APC resistance), genetic testing
Autosomal dominant
Hemochromatosis
Body absorbs too much iron and builds up within the body, effecting the liver, joints, pancreas and heart.
Fx/
tiredness, joint pain, mood swings
Ix/
blood test, genetic testing
Mx/
removal of blood, initially weekly then can be as little as twice per year.
Complications/
liver Ca, arthritis, diabetes, heart failure,
Wilsons
Body stores too much copper and builds up within the body, effecting the liver, brain and eyes.
Autosomal recessive
Fx/
Liver disease, cognitive impairment, depression
Ix/
bloods
Mx/
medication via liver team
Huntingtons
Effects the brain leading to changes in movement, thinking and behaviour. Usually presents from 30-50 years old.
Fx/
clumsiness, forgetfulness, involuntary movements, changes in mood/ behaviour - these can worsen and eventually effect your ability to walk, talk and think
Autosomal dominant
Ix/
genetic testing
