Screening for fetal aneuploidies at 11 to 13 weeks

Prenat Diagn. 2011 Jan;31(1):7-15. doi: 10.1002/pd.2637.

Abstract

Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aneuploidy*
  • Chorionic Gonadotropin, beta Subunit, Human / blood
  • Down Syndrome / diagnosis
  • False Positive Reactions
  • Female
  • Gestational Age*
  • Humans
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy-Associated Plasma Protein-A / analysis
  • Prenatal Diagnosis / methods*
  • Twins
  • Ultrasonography, Prenatal

Substances

  • Chorionic Gonadotropin, beta Subunit, Human
  • Pregnancy-Associated Plasma Protein-A