Evidence map›Paper›PMID 33611773›Full record

ArticleJournal of community genetics2021

Hereditary diseases and child wish: exploring motives, considerations, and the (joint) decision-making process of genetically at-risk couples.

Y Severijns, C E M de Die-Smulders, T Gültzow, H de Vries, L A D M van Osch

Open access · hybridAbstract read
In one paragraph

Article in Journal of community genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
3.5field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 25 citations in OpenAlex.

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  12. Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.International journal of molecular sciences · 2023
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Y SeverijnsDepartment of Health Promotion/CAPHRI, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands. yil.severijns@maastrichtuniversity.nl.ORCID http://orcid.org/0000-0002-8138-4741
C E M de Die-SmuldersGROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.
T GültzowDepartment of Health Promotion/CAPHRI, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.ORCID https://orcid.org/0000-0002-9268-1880
H de VriesDepartment of Health Promotion/CAPHRI, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.ORCID https://orcid.org/0000-0002-3640-2517
L A D M van OschDepartment of Health Promotion/CAPHRI, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands.
Maastricht University Medical Centre · NLMaastricht University · NL

Funding

ZonMw 543003106
6 · The paper itself

Abstract

Couples who are at risk of transmitting a genetic disease to their offspring may face difficult challenges regarding reproductive decision-making. Deciding if, and how, to purse their child wish can be a demanding process. This study aims to describe the reproductive joint decision-making process of genetically at-risk couples. A qualitative study was conducted with 16 couples (N=31) at risk of transmitting a genetic disease to their offspring and who received genetic counseling. Most couples were not aware of all available reproductive options in the Netherlands. A variety of motives was reported with almost all couples expressing a preference towards a reproductive option in which the child is genetically related to both parents. Only a few couples considered other options such as the use of donor gametes, adoption, and foster parenting. All couples indicated that they had multiple conversations to reach a mutually supported reproductive decision. Several carriers reported feelings of guilt and in some couples, the woman appeared to have a greater impact in the decision-making process as she should carry a pregnancy and should undergo medical treatments. This study provides insight in the extensive decision-making process of genetically at-risk couples and the role of both partners in this process. These findings can guide the development of genetic counseling (e.g., increase awareness of available reproductive options) and decision support for these couples.

Indexed as

Child wishGenetic counselingHereditary diseasesJoint decision-makingPreimplantation genetic testing (PGT)Prenatal diagnosis

Identifiers

PMID33611773
PMCPMC8241960
OpenAlexW3131100223

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.