M AL Badran MBchBCABOGFICM Aim To make undergratuate familiar with the tests used for screening and dignosis of fetal abnormality Screening test All women Non invasive ID: 1043269
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1. Prenatal diagnosisDr.Maysarah M. AL-BadranM.B.ch.B,C.A.B.O.G,F.I.C.M
2. Aim To make undergratuate familiar with the tests used for screening and dignosis of fetal abnormality.
3. Screening testAll womenNon invasiveInclude:Family hx,past obtetric hxmaternal biochemistry , virology and U/S
4. Diagnostic testsHigh risk pregnanciesInvasiveRisk of miscarrigeInclude:U/S,amniocentesis,CVS, cordocentesis
5. AmniocentesisAt or after 15 wkRisk of miscarrige 0.5-1%Earlier amniocentesis is more risk
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7. Chorionic villus samplingAt after 10 wkRisk of miscarrige 2-3%If performed before 10 wk:limb distruption and cleft lip/palate
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9. CordocentesisAt or after 20 wkGreater risk of miscarrige than amniocentesis and CVS
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11. Laboratory analysisKaryotypingFluorescence in situ hybridization(FISH)Polymerase chain reaction(PCR)
12. Screening for Down’s syndromHx.Triple testNuchal transulency
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14. Structural abnormalityNeural tube defects:AFP increase in open NTD-U/SAnencephaly&encephalocele can be detected on first trimester U/SSpina bifida:’lemon’&’banana’signCan be prevented by folic acid
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16. Congenital heart defectsGenetic,maternal DM,viral inf.,lithiumScreening by U/S &fetl echo.
17. Screening for congenital viral ¶sitic infRubella is screened for routinely Susceptible women vaccinated postpartum
18. Dx of congenital viral ¶sitic inf.If maternal inf. is confirmedserial fetal U/SEg.parvovirushydrops.toxoplasmosis&CMVmicrocephaly or ventriculomegaly,IUGR,hepatomegaly.
19. Non invasive prenatal DxEither fetal cells in the maternal circulation or cell-free fetal DNA to detect aneuploidy.
20. Preimplantation genetic DxBy IVF cycle,embryo biopsy is performed as early as 6-8 cell stage or at blastocyst to perform genetic testing before pregnancy to avoid termination of pregnancy.
21. Other methods of AN diagnosis3-D ultrasoundFetal MRI
22. RESOURCESObstetric by ten teacher 2010Dewhurst`s textbook of obstetric and gynaecology 2007
23. THANK YOU