Evidence map›Paper›PMID 27220741›Full record

ArticleJournal of genetic counseling2016

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.

S L van der Steen, S R Riedijk, J Verhagen-Visser, L C P Govaerts, M I Srebniak, D Van Opstal, M Joosten, M F C M Knapen, A Tibben, K E M Diderich and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
10.5field-weighted citation impact, top 2% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.

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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

11 authors at 2 institutions in 1 country.

S L van der SteenDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. s.vandersteen@erasmusmc.nl.
S R RiedijkDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
J Verhagen-VisserDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
L C P GovaertsDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
M I SrebniakDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
D Van OpstalDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
M JoostenDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
M F C M KnapenDepartment of Obstetrics and Prenatal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.
A TibbenDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
K E M DiderichDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
R J H GaljaardDepartment of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
Erasmus University Rotterdam · NLLeiden University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic microarray may detect susceptibility loci (SL) for neurodevelopmental disorders such as autism and epilepsy, with a yet unquantifiable risk for the fetus. The prenatal disclosure of susceptibility loci is a topic of much debate. Many health care professionals fear that reporting susceptibility loci may put a psychological burden on pregnant couples. It is our policy to disclose prenatal susceptibility loci as we recognize them as actionable for prospective parents. The aim of this report was to evaluate the psychological impact of disclosing a prenatal diagnosis of susceptibility loci. The psychological impact of disclosing susceptibility loci was evaluated in the first patients who received such results. Eight out of 15 women who had a susceptibility locus disclosed and four of their partners consented to share their experiences through a telephonic evaluation (n = 12). Follow-up time ranged from 3 to 15 months after their prenatal test result. The reporting of susceptibility loci was initially 'shocking' for five parents while the other seven felt 'worried'. Ten out of 12 participants indicated they would like to be informed about the susceptibility locus again, two were unsure. Most had no enduring worries. Participants unanimously indicated that pregnant couples should have an individualized pre-test choice about susceptibility loci (non)disclosure. We observed no negative psychological impact with the prenatal diagnosis and disclosure of SL on participants. A key factor in mitigating parental anxiety with SL disclosure appears to be post-test genetic counseling. Our report confirms that pregnant women and their partners prefer an individualized choice regarding the scope of prenatal testing.

Indexed as

DisclosureDNA Copy Number VariationsGenetic Predisposition to DiseaseAdultFearFemaleFetusGenetic CounselingGenetic TestingHumansMaleParentsPregnancyPrenatal DiagnosisQualitative ResearchStress, PsychologicalCNVGenomic microarrayIndividualized choiceInvasive prenatal diagnosisPsychological impactSusceptibility lociUncertaintyVOUS

Identifiers

PMID27220741
PMCPMC5114319
OpenAlexW2400338827

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.