غربالگری ناهنجاریهای جنین
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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