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

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

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.

0197-3851
369-378
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Birnie, Erwin
dad5871f-46ff-4765-9c3f-b2d89aa71a31
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Buitenhuis, Anne H.
7320d026-0aee-4983-9664-262ac0ab4b9e
Boersma, Elise
02481e63-d9f1-4306-8d85-aef8134b3908
Lucassen, Anneke M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Verkerk, Marian A.
6830316c-bc73-4e5f-8a46-de7a2f1f8fdf
van Langen, Irene M.
bcc17f78-800f-4deb-ac58-7c7e2f408bc7
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91
Plantinga, Mirjam
80329f67-dce0-4e72-ad91-8aff2212dde6
Birnie, Erwin
dad5871f-46ff-4765-9c3f-b2d89aa71a31
Schuurmans, Juliette
e2fed8c1-88b9-4a27-bf7b-c8bfcb2d37c9
Buitenhuis, Anne H.
7320d026-0aee-4983-9664-262ac0ab4b9e
Boersma, Elise
02481e63-d9f1-4306-8d85-aef8134b3908
Lucassen, Anneke M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Verkerk, Marian A.
6830316c-bc73-4e5f-8a46-de7a2f1f8fdf
van Langen, Irene M.
bcc17f78-800f-4deb-ac58-7c7e2f408bc7
Ranchor, Adelita V.
6097efc1-d863-4171-bc44-16f01cf6ab91

Plantinga, Mirjam, Birnie, Erwin, Schuurmans, Juliette, Buitenhuis, Anne H., Boersma, Elise, Lucassen, Anneke M., Verkerk, Marian A., van Langen, Irene M. and Ranchor, Adelita V. (2019) Expanded carrier screening for autosomal recessive conditions in health care: arguments for a couple-based approach and examination of couples' views. Prenatal Diagnosis, 39 (5), 369-378. (doi:10.1002/pd.5437).

Record type: Article

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-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.

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Accepted/In Press date: 5 February 2019
e-pub ahead of print date: 12 February 2019
Published date: April 2019

Identifiers

Local EPrints ID: 429008
URI: http://eprints.soton.ac.uk/id/eprint/429008
ISSN: 0197-3851
PURE UUID: b123ad63-522b-412a-92c2-76ed413d5536
ORCID for Anneke M. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 18 Mar 2019 17:30
Last modified: 26 Nov 2021 02:45

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Contributors

Author: Mirjam Plantinga
Author: Erwin Birnie
Author: Juliette Schuurmans
Author: Anne H. Buitenhuis
Author: Elise Boersma
Author: Marian A. Verkerk
Author: Irene M. van Langen
Author: Adelita V. Ranchor

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