A historical and practical review of first trimester aneuploidy screening

Melissa L. Russo, Karin J. Blakemore

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)183-187
Number of pages5
JournalSeminars in Fetal and Neonatal Medicine
Issue number3
StatePublished - Jun 2014


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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'A historical and practical review of first trimester aneuploidy screening'. Together they form a unique fingerprint.

Cite this