Carrier testing for spinal muscular atrophy.
Genet Med
; 12(10): 621-2, 2010 Oct.
Article
em En
| MEDLINE
| ID: mdl-20808230
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Atrofia Muscular Espinal
/
Testes Genéticos
/
Triagem de Portadores Genéticos
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article