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غربالگری ناهنجاریهای جنین. دكتر مهران دخت عابديني اداره سلامت مادران وزارت بهداشت. تاریخچه غربالگری ناهنجاریهای جنین. Down Syndrome AFP Only. 1 st Δ Free Beta. 1 st Δ Biochem/NT. ONTD Screening. Maximizing 1 st Δ Screening. NT. hCG. Free Beta hCG. 1 st Δ Papp-A. NB. - PowerPoint PPT Presentation

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  • 19758085909520002004ONTDScreeningDown SyndromeAFP OnlyhCGFree Beta hCG1st Free Beta1st Papp-ANT1st Biochem/NTNBMaximizing1st Screening

  • 1. 2.

    1. NT( 11 13+6 )2. (18 )

    1. 2. 3.

  • MarkerTimingDetection Rate

    AFP ALONE > 15 weeks 20%AFP & hCG >15 weeks 60%AFP,hCG,uE3 >15 weeks 65-70%AFP,hCG,uE3,DIA >15 weeks 70-75%NT11-14 weeks70-80%NT, B-hCG, PAPP-A11-14 weeks>85%

  • false positive . 15 . 7

  • CVS or early amnio .

  • .

  • . 16-18

  • . . false-positive rates ( )

  • PAPP-A and Free B-hCG60-68% detection of DS90% detection of Tri 184.5% false positive rate

    Some centers quote 87% detection of DS when combined with maternal age

  • Nuchal Translucency

    > 3mm = 30% risk of aneuploidy

    50-85% detection, 4.5% false positive

    Also associated with CHD, skeletal abnormalities, and diaphragmatic hernia NT 3 (CVS ) .

  • PAPP-A and Free B-hCGOn average, baby with trisomy 21 will have 2.0 Mom for B-hCG and 0.4 MoM PAPP-A

  • Integrated test 4 (NT )Detection Rate false positive (4/4) . :

  • Stepwise Sequential test ( +NT ) . : . 95 False positive 5 ( ). .

  • ( ) . NT

  • ACOGScreening program must meet specific criteria:

    Trained, certified, monitored sonographers perform NT NT alone is not sufficient, biochemistry must be includedComprehensive genetic counseling must be offeredAccess to diagnostic testing if abnormal screen resultsRigorous continual evaluations