Korean J Obstet Gynecol.  2001 Jun;44(6):1091-1096.

The efficacy of nuchal translucency with free beta-hCG, PAPP-A as a screening test for detection of chromosomal anomaly in the first trimester of pregnancy

  • 1Department of Obstetrics and Gynecology, College of Medicine, Hallym University, Sacred Heart Hospital, Korea.


The aim of this study is to determine the efficacy of nuchal translucency in combination with free beta-hCG, PAPP-A in the first trimester screening for chromosomal anomaly in general population.
Between April 1998 and December 1999, we evaluated 263 pregnant women undergoing first trimester screening test for fetal chromosomal anomaly using nuchal translucency combined with free beta-hCG, PAPP-A. We confirmed the pregnancy outcomes through chorionic villi sampling, amniocentesis or term delivery. We excluded 15 pregnant women because of their obscure pregnancy outcomes. Statistical analysis was considered significant when P value was lower than 0.05.
With a risk cut-off of 1 in 400, 24 pregnancies(9.7%) of 248 cases were screen positive and 224 pregnancies(90.3%) were screen negative. 2 cases of Down syndrome and 1 case of Turner syndrome were detected in screen positive group. No chromosomal anomalies were detected in screen negative group.
In this study, 8.57% of false positive rate and 12.5% of positive predictive value were obtained in the first trimester screening for chromosomal anomaly using nuchal translucency and serum markers.


Nuchal translucency; Free beta-hCG; PAPP-A; Chromosomal anomaly
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