Expanded carrier screening: A current perspective.
Publication/Presentation Date
11-1-2018
Abstract
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy. Expanded carrier screening refers to identification of carriers of single-gene disorders outside of traditional screening guidelines. Expanded carrier screening panels include numerous autosomal recessive and X-linked genetic conditions, including those with a very low carrier frequency, as well as those with mild or incompletely penetrant phenotype. Therefore, the clinical utility of these panels is still subject of debate. Priority should be given to carrier screening panels that include a comprehensive set of severe childhood-onset disorders. Psychosocial support and genetic couseling should be available prior to screening and for the return of positive results. Systems are needed to reduce the risk of misinterpreting results. Finally, attention should be paid on the impact of expanded carrier screening on health care organizations and burden of cost.
Volume
230
First Page
41
Last Page
54
ISSN
1872-7654
Published In/Presented At
Mastantuoni, E., Saccone, G., Al-Kouatly, H. B., Paternoster, M., D'Alessandro, P., Arduino, B., Carbone, L., Esposito, G., Raffone, A., De Vivo, V., Maruotti, G. M., Berghella, V., & Zullo, F. (2018). Expanded carrier screening: A current perspective. European journal of obstetrics, gynecology, and reproductive biology, 230, 41–54. https://doi.org/10.1016/j.ejogrb.2018.09.014
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
30240948
Department(s)
Administration and Leadership
Document Type
Article