A historical and practical review of first trimester aneuploidy screening

Abstract

There have been tremendous advancements over the past three decades in prenatal screening for aneuploidy and we have changed our practice from screening by maternal age alone to 'combined' first trimester screening and circulating cell-free fetal DNA. We currently use the nuchal translucency and biochemical markers of free β-hCG and PAPP-A to determine the risk of fetal aneuploidy. The primary goal is to identify higher risk women for fetal aneuploidy early in pregnancy and give them the option to pursue invasive testing in a timely manner if desired.

Keywords: Aneuploidy; First trimester screening; Free β-human chorionic gonadotropin; Maternal serum screening tests; Nuchal translucency measurement; Pregnancy-associated plasma protein A.