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Article

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Human mutation - 1 Nov 2010

Scott Stuart A, Edelmann Lisa, Liu Liu, Luo Minjie, Desnick Robert J, Kornreich Ruth

Abstract excerpt

The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the...

Topics

Alleles
Female
Founder Effect
Gene Frequency
Genes, Recessive
Genetic Carrier Screening
Genetic Diseases, Inborn
Genetic Testing
Humans
Jews
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

New York City

Patient Acceptance of Health Care

Pregnancy

Prenatal Diagnosis

Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 20672374
DOI: 10.1002/humu.21327
PMCID: PMC2970726

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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