| Literature DB >> 15292027 |
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Abstract
Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis as part of routine obstetric care. Based on the criteria used to justify offering carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis, the American College of Obstetricians and Gynecologists' Committee on Genetics recommends that couples of Ashkenazi Jewish ancestry also should be offered carrier screening for familial dysautonomia. Individuals of Ashkenazi Jewish descent may inquire about the availability of carrier screening for other disorders. Carrier screening is available for mucolipidosis IV Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher's disease.Entities:
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Year: 2004 PMID: 15292027 DOI: 10.1097/00006250-200408000-00050
Source DB: PubMed Journal: Obstet Gynecol ISSN: 0029-7844 Impact factor: 7.661