Genetics in medicine : official journal of the American College of Medical Genetics · 2010
Carrier testing for spinal muscular atrophy.
Consensus Development Conference, NIHСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Gitlin Jonathan M, Fischbeck Kenneth, Crawford Thomas O, Cwik Valerie, Fleischman Alan, Gonye Karla, Heine Deborah, Hobby Kenneth, Kaufmann Petra, Keiles Steven, MacKenzie Alex, Musci Thomas, Prior Thomas, Lloyd-Puryear Michele, Sugarman Elaine A, Terry Sharon F, Urv Tiina, Wang Ching, Watson Michael, Yaron Yuval, Frosst Phyllis, Howell R Rodney
Аннотация
Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer standards of care as to whether or not carrier screening for spinal muscular atrophy should be offered as part of routine reproductive care. This leaves health care providers without clear guidance. In fall 2009, a meeting was held by National Institutes of Health to examine the scientific basis for spinal muscular atrophy carrier screening and to consider the issues that accompany such screening. In this article, the meeting participants summarize the discussions and conclude that pan-ethnic carrier screening for spinal muscular atrophy is technically feasible and that the specific study of implementing a spinal muscular atrophy carrier screening program raises broader issues about determining the scope and specifics of carrier screening in general.