Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.

ABSTRACT:

Background

Expanded carrier screening (ECS) is aimed at detecting carrier states for autosomal recessive (AR) or X-linked conditions in couples from the general population planning a pregnancy. ECS is currently usually offered on an individual basis despite the fact that, for AR conditions, only carrier couples are at risk of affected offspring. In this paper, we present a couple-based ECS test-offer for AR conditions, where results are offered as couple-results only, and describe how couples view such an offer.

Methods and results

An online survey covering attitudes, perceived difficulty, and intention to take up couple-based ECS was used to examine couples' views. Results show that in 76% of the participating couples there is no objection at all towards receiving couple-re

SUBMITTER: Plantinga M 

PROVIDER: S-EPMC6593986 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature