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Genetic screening for Krabbe disease: Learning from the past and looking to the future
Author(s) -
Macarov Michal,
Zlotogora Joel,
Meiner Vardiella,
Khatib Zinab,
Sury Vivi,
Mengistu Getu,
Bargal Ruth,
Shmueli Esther,
Meidan Bela,
Zeigler Marsha
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33815
Subject(s) - krabbe disease , disease , incidence (geometry) , prenatal diagnosis , medicine , pediatrics , environmental health , family medicine , pregnancy , biology , pathology , fetus , genetics , physics , optics , leukodystrophy
Abstract In Israel, Krabbe disease is frequent in two Moslem Arab villages in the Jerusalem area. In this paper we present our experience of almost four decades with diagnosis of Krabbe disease, carrier screening and prenatal diagnosis. The screening program is well accepted by the community, and there is a clear trend towards premarital testing. The screening program and prenatal diagnosis have led to a decrease in the incidence of Krabbe disease from 1.6 per 1,000 live births to 0.82 per 1,000. © 2011 Wiley‐Liss, Inc.