Evidence map›Paper›PMID 34112999›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021

Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.

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

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

11 citing papers in PubMed, 16 citations in OpenAlex.

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  9. Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022
    Article
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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

9 authors at 2 institutions in 2 countries.

Erwin Birnie *Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. e.birnie@umcg.nl.ORCID 0000-0002-4534-4857
Juliette Schuurmans *Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Mirjam PlantingaDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Kristin M AbbottDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Angela FenwickClinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.
Anneke LucassenClinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.
Marjolein Y BergerGeneral Practice and Elderly Care Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Irene M van LangenDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Adelita V RanchorDepartment of Health Psychology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
University Medical Center Groningen · NLUniversity of Southampton · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reproductive genetic screening in routine care requires assessment of benefits and harms. We examined the psychological outcomes of couple-based ECS for 50 autosomal recessive (AR) conditions provided by general practitioners (GPs) to couples from the Dutch general population.

methodsDutch GPs invited 4,295 women aged 18-40. We examined anxiety (State-Trait Anxiety Inventory, STAI-6), worry, decisional conflict (DCS) over time in participants declining GP counseling or attending GP counseling with/without testing.

resultsOne hundred ninety couples participated; 130 attended counseling, of whom 117 proceeded with testing. No carrier couples were identified. Before counseling, worry (median 6.0) and anxiety (mean 30-34) were low and lower than the population reference (36.4), although some individuals reported increased anxiety or worry. At follow-up, test acceptors reported less anxiety than test decliners (mean 29 vs. 35); differences in anxiety after testing compared to before counseling were not meaningful. Most participants (90%) were satisfied with their decision (not) to undergo testing.

conclusionSome individuals reported temporarily clinically relevant distress. Overall, the psychological outcomes are acceptable and no barrier to population-wide implementation.

Indexed as

General PractitionersChildFemaleGenetic Carrier ScreeningGenetic CounselingGenetic TestingHumansIntentionReproduction

Identifiers

PMID34112999
PMCPMC8460434
OpenAlexW3168741106

What OpenQuestion holds

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LicenceCC BY
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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.