Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements

Genet Med. 2009 Sep;11(9):669-81. doi: 10.1097/GIM.0b013e3181ad5246.


This statement is intended to augment the current general ACMG Standards and Guidelines for Clinical Genetics Laboratories and to address guidelines specific to first-trimester screening for Down syndrome. The aim is to provide the laboratory the necessary information to ensure accurate and reliable Down syndrome screening results given a screening protocol (e.g., combined first trimester and integrated testing). Information about various test combinations and their expected performance are provided, but other issues such as availability of reagents, patient interest in early test results, access to open neural tube defect screening, and availability of chorionic villus sampling are all contextual factors in deciding which screening protocol(s) will be selected by individual health care providers. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Act, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures. These guidelines address first-trimester screening that includes ultrasound measurement and interpretation of nuchal translucency thickness and protocols that combine markers from both the first and second trimesters. Laboratories can use their professional judgment to make modification or additions.

Publication types

  • Practice Guideline

MeSH terms

  • Biomarkers / metabolism
  • Down Syndrome / diagnosis*
  • Female
  • Genetic Testing / methods
  • Genetic Testing / standards*
  • Guideline Adherence
  • Humans
  • Male
  • Pregnancy
  • Pregnancy Trimester, First / metabolism
  • Prenatal Diagnosis / methods
  • Prenatal Diagnosis / standards*


  • Biomarkers