Preconceptionele uitgebreide dragerschapsscreening: een genetische test voor koppels met een kinderwens

Abstract

Preconception expanded carrier screening: a genetic test for couples planning to conceive Approximately 1% to 2% of all couples have a risk of conceiving a child with a severe recessive disorder. Genetic expanded carrier screening (ECS) can determine this risk and allows couples planning a pregnancy to make informed reproductive choices. The Belgian genetic centers developed the ‘Belgian Genetic Expanded Carrier Screening’ (BeGECS), an ECS for 1,248 genes. The center for medical genetics (CMGG) of the Ghent University Hospital already received samples from over 350 couples. This article discusses the results of the first 250 analyses. Of the 250 couples, 70% consulted in the context of a preimplantation genetic testing (PGT) trajectory. These couples had an already known carriership in 1 or both partners of an autosomal dominant, autosomal recessive and/or X-linked disorder. These risks are of course not included in the results of the BeGECS analyses. The BeGECS analyses showed that 15 couples (6%) were at risk of having a child with an autosomal recessive disorder and 5 (2%) of having a child with a severe phenotype. In 7 couples (2.8%), 1 of the partners was carrier of an X-linked disorder. In 26% of those screened, individual carriership was identified for 1 of the highly frequent autosomal recessive disorders. Couples who are aware of this risk, prior to pregnancy, can make autonomous informed reproductive choices. To allow every couple to choose for ECS, it is essential that offering the test becomes part of standard preconception care.