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

2010; Wiley; Volume: 31; Issue: 11 Linguagem: Inglês

10.1002/humu.21327

1098-1004

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

Oral and gingival health research

Human MutationVolume 31, Issue 11 p. 1240-1250 Research Article Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases† Stuart A. Scott, Stuart A. Scott Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorLisa Edelmann, Lisa Edelmann Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorLiu Liu, Liu Liu Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorMinjie Luo, Minjie Luo Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorRobert J. Desnick, Corresponding Author Robert J. Desnick [email protected] Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York Robert J. Desnick, Dean for Genetics and Genomics, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, Box 1498, New York, NY 10029 Ruth Kornreich, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1497, New York, NY 10029Search for more papers by this authorRuth Kornreich, Corresponding Author Ruth Kornreich [email protected] Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York Robert J. Desnick, Dean for Genetics and Genomics, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, Box 1498, New York, NY 10029 Ruth Kornreich, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1497, New York, NY 10029Search for more papers by this author Stuart A. Scott, Stuart A. Scott Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorLisa Edelmann, Lisa Edelmann Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorLiu Liu, Liu Liu Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorMinjie Luo, Minjie Luo Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New YorkSearch for more papers by this authorRobert J. Desnick, Corresponding Author Robert J. Desnick [email protected] Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York Robert J. Desnick, Dean for Genetics and Genomics, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, Box 1498, New York, NY 10029 Ruth Kornreich, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1497, New York, NY 10029Search for more papers by this authorRuth Kornreich, Corresponding Author Ruth Kornreich [email protected] Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York Robert J. Desnick, Dean for Genetics and Genomics, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, Box 1498, New York, NY 10029 Ruth Kornreich, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1497, New York, NY 10029Search for more papers by this author First published: 28 October 2010 https://doi.org/10.1002/humu.21327Citations: 114 † Communicated by David S. Rosenblatt Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract 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 New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ∼1 in 3.3 being a carrier for one disease and ∼1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ∼15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. 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