title: Carrier screening for Gaucher disease in couples of mixed ethnicity.
abstract: With the advent of mutational analysis for Gaucher disease, carrier screening has been incorporated into many Jewish genetic disease screening programs. Frequencies and mutations for Gaucher disease in non-Jewish populations are less well established and the detection rate of carriers are lower. Testing is problematic for resolving residual risk in a couple of mixed ethnicity. We report the testing choices made by 20 consecutive couples of mixed ethnicity where the Ashkenazi Jewish partner was identified to be a Gaucher disease gene carrier. Carrier studies of the non-Jewish partner were elected as follows: DNA studies alone, 5 (25%); enzymatic assay, 2 (10%); both, 6 (30%); no carrier studies, 7 (35%). Of the 7 couples not electing carrier studies, one was not in a pregnancy and 6 elected prenatal diagnosis in lieu of parental testing by enzymatic analysis of amniocytes. One couple elected parental carrier studies as well as prenatal diagnosis. All couples electing prenatal Gaucher determination had amniocentesis for other indications as well (4, advanced maternal age; 4, parental anxiety). We conclude that Gaucher screening is feasible for couples of mixed ethnicity if appropriate counseling and testing are offered.
authors.affiliation: Department of Pediatrics, Hackensack University Medical Center, NJ 07601, USA. violetwall@earthlink.net
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: A
authors.initials: A
authors.lastname: Starkman
authors.forename: V
authors.initials: V
authors.lastname: Jansen
mesh_terms: D000328:Adult; D000649:Amniocentesis; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005191:Family Characteristics; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D008297:Male; D008423:Maternal Age; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis / Q000379:methods