Prenatal genetic screening in the Ashkenazi Jewish population

Clin Perinatol. 2001 Jun;28(2):367-82. doi: 10.1016/s0095-5108(05)70089-0.


The Ashkenazi Jewish community is a unique and ideal population in which to provide multiple disease screening because detection rates are high (> 95%) by testing a limited number of mutations. The residual risk that remains is very low. In addition, the lessons learned from carrier screening in this community indicate that only through genetic counseling and education can screening in the general population gain wide acceptance and provide maximum benefit.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Counseling
  • Genetic Carrier Screening
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / ethnology*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Humans
  • Jews / genetics*
  • Mutation
  • Prenatal Diagnosis*
  • Risk Factors