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

• Kim SJ
• Kim CM
• Min BS
• Sohn WS
• Kang JB
• Jang PR

Abstract

OBJECTIVES
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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.

Keyword

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

MeSH Terms

Amniocentesis
Biomarkers
Chorionic Villi Sampling
Down Syndrome
Female
Humans
Mass Screening*
Nuchal Translucency Measurement*
Pregnancy
Pregnancy Outcome
Pregnancy Trimester, First*
Pregnancy*
Pregnancy-Associated Plasma Protein-A*
Pregnant Women
Turner Syndrome
Pregnancy-Associated Plasma Protein-A