congen abn and tests.txt
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what organ in fetes makes AFP?
what are causes of raised AFP?
what are causes of decreased AFP?
what happens to the 5 markers in downs?
- HCG up
- inhibit up
- AFP down
- uE3 down
- PAPPA down
what is the combined test for DS?
- bloods: B-HCG and PAPPA
what is triple test for DS?
what is quadruple test for DS?
what problems can be diagnosed by amniocentesis
- infections: CMV, toxo
- inherited: sickle, thal, cystic fibrosis
- chr: Downs
what is the cause of Downs?
- usually random non dysfunction at meiosis
- or balanced chromosomal translocation in parents
what are features of DS?
what is recurrence rate of DS and depend on?
- low recurrence rate, depends on maternal age (1%)
- unless if balanced translocaiton of parents - may be higher recurrence rate
how long do T18, T13 survive?
die in utero or usually shortly after birth
what are 3 features of Downs on USS?
- increased NT
- absent or shortened nasal bone
- tricuspid regurgitation
what are 2 main eg of NTD?
which NTD is incompatible with life?
what can reduce incidence of NTD?
what can reduce NTD from reoccurring
folic acid 4mg (higher dose)
what are RF for cardiac anomalies?
- women with congenital cardiac disease
- previous baby with congenital cardiac disease
- other structural abnormalities or chr disorder
what is most common cardiac anomaly?
what is exomphalos?
partial extrusion of abdominal contents in a peritoneal sac
what % of infants with exomphalos have a chr problem?
what is gastroschisis?
- free loops of bowel in amniotic cavity
- rarely assoc with chr defects
what is fettle hydrous?
fluid accumulates in 2 or more areas in fetus
what are the 2 types of causes of hydrous?
what are immune causes of hydrous?
- anaemia and haemolysis
- Rhesus disease
what are 5 categories of non-immune hydrous?
- 1. chr abnormality eg T21 common in early pregnancy
- 2. structural abnormality eg diaphragmatic hernia
- 3. congenital cardiac abnormalities or arrhythmia - Rx mum with antiarrhthmic (eg flecainide)
- 4. cardiac failure due to anaemia eg parvovirus infection, feto-maternal haemorrhage or fetal alpha thalassaemia major
- 5. twin to twin transfusion syndrome in monochorionic twins
what 3 aspects of Ix of hydrous?
- careful USS
- specialist cardiac scan
- assess MCA
what blood tests on mother in hydrous?
- Kleihauer test
- parvovirus IgM
if anaemia in fetes is suspected what test needs to be done?
fettle blood sampling
what are the 3 main single gene defects? which are dominant and which recessive?
- dominant: neurofibromatosis - 50% chance of passing on if one parent affected
- recessive: cystic fibrosis, sickle cell - so test mother, partner and then can do diagnostic test (amnio or CVS)
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