congen abn and tests.txt

  1. what organ in fetes makes AFP?
  2. what are causes of raised AFP?
    • NTD
    • gastroschisis
    • exomphalos
  3. what are causes of decreased AFP?
  4. what happens to the 5 markers in downs?
    • HCG up
    • inhibit up
    • AFP down
    • uE3 down
    • PAPPA down
  5. what is the combined test for DS?
    • age
    • NT
    • bloods: B-HCG and PAPPA
  6. what is triple test for DS?
    • AFP, uE3, HCG
    • age
  7. what is quadruple test for DS?
    • AFP uE3 HCG inhibinA
    • age
  8. what problems can be diagnosed by amniocentesis
    • infections: CMV, toxo
    • inherited: sickle, thal, cystic fibrosis
    • chr: Downs
  9. what is the cause of Downs?
    • T21
    • usually random non dysfunction at meiosis
    • or balanced chromosomal translocation in parents
  10. what are features of DS?
    • cardiac
    • bowel
    • facies
    • LD
    • growth
  11. 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
  12. how long do T18, T13 survive?
    die in utero or usually shortly after birth
  13. what are 3 features of Downs on USS?
    • increased NT
    • absent or shortened nasal bone
    • tricuspid regurgitation
  14. what are 2 main eg of NTD?
    • spina bifida
    • anencephaly
  15. which NTD is incompatible with life?
  16. what can reduce incidence of NTD?
    folic acid
  17. what can reduce NTD from reoccurring
    folic acid 4mg (higher dose)
  18. what are RF for cardiac anomalies?
    • women with congenital cardiac disease
    • previous baby with congenital cardiac disease
    • diabetes
    • other structural abnormalities or chr disorder
  19. what is most common cardiac anomaly?
  20. what is exomphalos?
    partial extrusion of abdominal contents in a peritoneal sac
  21. what % of infants with exomphalos have a chr problem?
    • 50% so amnio offered
    • T18
  22. what is gastroschisis?
    • free loops of bowel in amniotic cavity
    • rarely assoc with chr defects
  23. what is fettle hydrous?
    fluid accumulates in 2 or more areas in fetus
  24. what are the 2 types of causes of hydrous?
    • immune
    • non immune
  25. what are immune causes of hydrous?
    • anaemia and haemolysis
    • Rhesus disease
  26. 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
  27. what 3 aspects of Ix of hydrous?
    • careful USS
    • specialist cardiac scan
    • assess MCA
  28. what blood tests on mother in hydrous?
    • Kleihauer test
    • parvovirus IgM
  29. if anaemia in fetes is suspected what test needs to be done?
    fettle blood sampling
  30. 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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congen abn and tests.txt