First trimester ultrasound assessment for fetal aneuploidy

Clin Obstet Gynecol. 2014 Mar;57(1):142-58. doi: 10.1097/GRF.0000000000000013.

Abstract

Screening tests for trisomy 21 have gradually become more refined and now involve complex statistical models that combine demographic, biophysical, and biochemical parameters to produce individualized risk estimates for pregnant women. An understanding of the evolution of the principles, methods, and statistical techniques applied to Down syndrome screening is valuable as these processes can be transferred to other, more prevalent, adverse pregnancy outcomes. First trimester ultrasound forms the foundation of this process.

Publication types

  • Review

MeSH terms

  • Aneuploidy*
  • Biomarkers / metabolism
  • Chorionic Gonadotropin, beta Subunit, Human / metabolism*
  • Down Syndrome / diagnostic imaging*
  • Down Syndrome / metabolism
  • Female
  • Heart Rate, Fetal
  • Humans
  • Nasal Bone / diagnostic imaging*
  • Nuchal Translucency Measurement / methods*
  • Pregnancy
  • Pregnancy Trimester, First*
  • Pregnancy-Associated Plasma Protein-A / metabolism*
  • Ultrasonography, Prenatal / methods
  • Umbilical Veins / diagnostic imaging*

Substances

  • Biomarkers
  • Chorionic Gonadotropin, beta Subunit, Human
  • Pregnancy-Associated Plasma Protein-A
  • PAPPA protein, human