A re-examination of the use of ethnicity in prenatal carrier testing

Am J Med Genet A. 2012 Jan;158A(1):19-23. doi: 10.1002/ajmg.a.34361. Epub 2011 Nov 21.


In April 2011, the American Congress of Obstetricians and Gynecologists (formerly the American College of Obstetrics and Gynecology [ACOG]), updated its policy on carrier screening for cystic fibrosis and proposed that because of the increasing difficulty in assigning a single ethnicity to individuals, "It is reasonable, therefore to offer CF carrier screening to all patients." However, ACOG continues to use ethnicity in its guidelines about carrier testing for autosomal recessive disorders like sickle cell disease (SCD) and Tay-Sachs disease (TSD). This practice is in marked contrast with newborn screening (NBS) which is universally provided for all conditions. In this manuscript, I evaluate the discrepant role of ethnicity in NBS and carrier screening. I argue that ACOG needs to adopt the position it now takes for CF regarding prenatal carrier testing for all conditions. To promote equity in prenatal testing decision making, health care policies must acknowledge the diversity of the populations that we serve and empower all women and couples to make more fully informed reproductive decisions by offering prenatal carrier testing to all.

Publication types

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

MeSH terms

  • Anemia, Sickle Cell / ethnology
  • Anemia, Sickle Cell / genetics
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / ethnology*
  • Cystic Fibrosis / genetics
  • Female
  • Genetic Carrier Screening*
  • Genetic Testing / methods*
  • Gynecology
  • Heterozygote*
  • Humans
  • Jews / genetics
  • Practice Guidelines as Topic
  • Pregnancy
  • Prenatal Diagnosis
  • Tay-Sachs Disease / ethnology
  • Tay-Sachs Disease / genetics