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

Mirjam Plantinga, Erwin Birnie, Juliette Schuurmans, Anne H Buitenhuis, Elise Boersma, Anneke M Lucassen, Marian A Verkerk, Irene M van Langen, Adelita V Ranchor

OnderzoeksoutputAcademicpeer review

11 Citaten (Scopus)
158 Downloads (Pure)


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-results only. Most couples display similar views. Observed discrepancies usually involved one of the couple members having a positive view, whilst the other was neutral. Although views stayed strikingly stable after discussion, the partner's opinion was regarded as important in deciding whether or not to have testing.

CONCLUSION: This study shows that most couples do not object to receiving couple rather than individual ECS results, have similar views towards the offer, and are able to discuss differences in views and intentions.

Originele taal-2English
Pagina's (van-tot)369-378
Aantal pagina's10
TijdschriftPrenatal Diagnosis
Nummer van het tijdschrift5
StatusPublished - apr-2019

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