congen abn and tests.txt
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congen abn and tests.txt
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?
what is the combined test for DS?
: B-HCG and PAPPA
what is triple test for DS?
AFP, uE3, HCG
what is quadruple test for DS?
AFP uE3 HCG inhibinA
what problems can be diagnosed by amniocentesis
: CMV, toxo
: sickle, thal, cystic fibrosis
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?
absent or shortened nasal bone
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?
50% so amnio offered
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
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?
specialist cardiac scan
what blood tests on mother in hydrous?
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?
: neurofibromatosis - 50% chance of passing on if one parent affected
: cystic fibrosis, sickle cell - so test mother, partner and then can do diagnostic test (amnio or CVS)