-
what organ in fetes makes AFP?
liver
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what are causes of raised AFP?
- NTD
- gastroschisis
- exomphalos
-
what are causes of decreased AFP?
Downs
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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?
- age
- NT
- 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?
- T21
- usually random non dysfunction at meiosis
- or balanced chromosomal translocation in parents
-
what are features of DS?
- cardiac
- bowel
- facies
- LD
- growth
-
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?
anencephaly
-
what can reduce incidence of NTD?
folic acid
-
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
- diabetes
- other structural abnormalities or chr disorder
-
what is most common cardiac anomaly?
VSD
-
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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