title: 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.
authors: Maternal Fetal Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address: mrusso5@jhmi.edu.
authors: Melissa L
authors: ML
authors: Russo
authors: Maternal Fetal Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
authors: Karin J
authors: KJ
authors: Blakemore
mesh_terms: D000328:Adult; D000782:Aneuploidy; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D049673:History, 20th Century; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000266:history*; D016216:Ultrasonography, Prenatal
keywords: Aneuploidy; First trimester screening; Free β-human chorionic gonadotropin; Maternal serum screening tests; Nuchal translucency measurement; Pregnancy-associated plasma protein A