Authors
Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp, Borut Peterlin
Publication date
2016/6
Journal
European journal of human genetics
Volume
24
Issue
6
Pages
e1-e12
Publisher
Nature Publishing Group
Description
This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners’ personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant …
Total citations
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Scholar articles
L Henneman, P Borry, D Chokoshvili, MC Cornel… - European journal of human genetics, 2016