Current controversies in traditional and expanded carrier screening.
Curr Opin Obstet Gynecol
; 28(2): 136-41, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-26844860
ABSTRACT
PURPOSE OF REVIEW Expanded carrier screening, which detects carriers for a large number of autosomal recessive and X-linked diseases, is increasing in clinical utilization. A recent joint statement from multiple professional societies, in addition to a growing literature base, offers perspective on rationale, decision points, and reasonable methods of implementation. RECENT FINDINGS:
Current literature addresses three areas pre- and posttest education, including optimal use of formal genetic counseling, and differing characteristics of laboratory tests. Surveys of obstetricians and genetics providers also offer insight into optimal practice methods.SUMMARY:
We review the carrier screening process in chronological sequence - pretest, test selection, and posttest results disclosure - and points to be considered, recommending possible practice protocols based on available literature and our combined laboratory and clinical practice experience.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Aconselhamento Genético
/
Heterozigoto
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
/
Screening_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article