Screening for fetal aneuploidy and neural tube defects

Genet Med. 2009 Nov;11(11):818-21. doi: 10.1097/GIM.0b013e3181bb267b.


Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. This policy updates the American College of Medical Genetics policy statement entitled Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy (2004), incorporates First trimester diagnosis and screening for fetal aneuploidy (2008) and complements the sections of American College of Medical Genetic's Standards and Guidelines for Clinical Genetics Laboratories entitled Prenatal Screening for Down syndrome (2005) and Prenatal Screening for Open Neural Tube Defects (2005).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Chromosomes, Human, Pair 18 / genetics*
  • Down Syndrome / blood
  • Down Syndrome / diagnosis*
  • Female
  • Fetal Diseases / blood
  • Fetal Diseases / diagnosis*
  • Genetic Markers
  • Genetic Testing*
  • Humans
  • Neural Tube Defects / blood
  • Neural Tube Defects / diagnosis*
  • Pregnancy
  • Prenatal Diagnosis*
  • Trisomy / diagnosis*


  • Biomarkers
  • Genetic Markers