GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

Juliette Schuurmans*, Erwin Birnie, Adelita Ranchor, Kristin M. Abbott, Angela Fenwick, Anneke Lucassen, Marjolein Y. Berger, Marian Verkerk, Irene M. van Langen, Mirjam Plantinga

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

3 Citaten (Scopus)
62 Downloads (Pure)

Samenvatting

Next generation sequencing has enabled fast and relatively inexpensive expanded carrier screening (ECS) that can inform couples' reproductive decisions before conception and during pregnancy. We previously showed that a couple-based approach to ECS for autosomal recessive (AR) conditions was acceptable and feasible for both health care professionals and the non-pregnant target population in the Netherlands. This paper describes the acceptance of this free test-offer of preconception ECS for 50 severe conditions, the characteristics of test-offer acceptors and decliners, their views on couple-based ECS and reasons for accepting or declining the test-offer. We used a survey that included self-rated health, intention to accept the test-offer, barriers to test-participation and arguments for and against test-participation. Fifteen percent of the expected target population-couples potentially planning a pregnancy-attended pre-test counselling and 90% of these couples proceeded with testing. Test-offer acceptors and decliners differed in their reproductive characteristics (e.g. how soon they wanted to conceive), educational level and stated barriers to test-participation. Sparing a child a life with a severe genetic condition was the most important reason to accept ECS. The most important reason for declining was that the test-result would not affect participants' reproductive decisions. Our results demonstrate that previously uninformed couples of reproductive age, albeit a selective part, were interested in and chose to have couple-based ECS. Alleviating practical barriers, which prevented some interested couples from participating, is recommended before nationwide implementation.

Originele taal-2English
Pagina's (van-tot)182-192
Aantal pagina's11
TijdschriftEJHG
Volume28
Nummer van het tijdschrift2
Vroegere onlinedatum30-sep-2019
DOI's
StatusPublished - feb-2020

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