Keywords

Down syndrome, first-trimester screening, free beta human chorionic gonadotropin (free [beta]-hCG), pregnancy-associated plasma protein-A (PAPP-A), trisomy 21, nuchal translucency, tricuspid regurgitation, ultrasound

 

Authors

  1. McGee, Deborah Cooper MSN, RNC, PNNP, RDMS

Abstract

Screening for Down syndrome has become an integral part of prenatal care. In recent years, there has been significant interest in first-trimester screening methods. Increased nuchal translucency in the first trimester of pregnancy has been identified as a marker for chromosomal anomalies and congenital cardiac disease. In addition, research has identified a correlation between tricuspid regurgitation, diagnosed by pulsed-wave Doppler ultrasonography, in aneuploid fetuses between 11 and 13 + 6 weeks' gestation. This article provides a brief historical overview of screening for aneuploidy and examines the emerging trend and pitfalls of first-trimester screening.