Evidence map›Paper›PMID 29956345›Full record

ArticlePrenatal diagnosis2018

Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing.

Preeya Desai, Hannah Haber, Jessica Bulafka, Amita Russell, Rebecca Clifton, Julia Zachary, Seonjoo Lee, Tianshu Feng, Ronald Wapner, Catherine Monk and 1 more

Abstract read
In one paragraph

Article in Prenatal diagnosis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
7.6field-weighted citation impact, top 3% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.

  1. Pooled it
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  15. The FrogFrontiers in physiology · 2019
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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 4 institutions in 1 country.

Preeya DesaiNew York State Psychiatric Institute, New York, NY, USA.ORCID 0000-0003-0432-5745
Hannah HaberColumbia University, New York, NY, USA.
Jessica BulafkaDepartment of Pediatrics, Columbia University, New York, NY, USA.
Amita RussellDepartment of Obstetrics & Gynecology, Columbia University, New York, NY, USA.
Rebecca CliftonGeorge Washington University, Washington, DC, USA.
Julia ZacharyGeorge Washington University, Washington, DC, USA.
Seonjoo LeeDivision of Biostatistics, New York State Psychiatric Institute, New York, NY, USA.
Tianshu FengDivision of Biostatistics, New York State Psychiatric Institute, New York, NY, USA.
Ronald WapnerDepartment of Obstetrics & Gynecology, Columbia University, New York, NY, USA.
Catherine MonkNew York State Psychiatric Institute, New York, NY, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University, New York, NY, USA.
Columbia University · USColumbia University Irving Medical Center · USNew York Psychoanalytic Society and Institute · USGeorge Washington University · US

Funding

Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective EvaluationR01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, Vaidehi Jobanputra · 2007 to 2026
$16.5M
PRENATAL CYTOGENETIC DIAGNOSIS BY ARRAY-BASED COPY NUMBER ANALYSES: Follow-upU01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WAPNER, RONALD · 2012 to 2016
$6.6M
Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral GeneticsP50HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2013 to 2017
$5.4M
Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral GeneticsRM1HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2018 to 2021
$4.4M
Time Past Menopause, Duration of Estrogen Deficiency, and Insulin ActionR01DK088105 · NIDDK · UNIVERSITY OF COLORADO DENVER · PI VAN PELT, RACHAEL E · 2011 to 2014
$1.7M
NHGRI NIH HHS P50 HG007257NHGRI NIH HHS RM1 HG007257NICHD NIH HHS R01 HD055651NICHD NIH HHS U01 HD055651NIDDK NIH HHS R01 DK088105
6 · The paper itself

Abstract

objectiveThere are concerns regarding the potential harms in receipt of prenatal chromosome microarray (CMA) results, particularly variants of uncertain significance (VUS). We examined the influence that the return of genomic results had on parental well-being and perceptions of children's development.

methodsParents (n = 138) of 83 children who underwent prenatal chromosomal microarray testing completed questionnaires assessing perception of children's development, parent-child attachment, parental mood, parenting competence, martial satisfaction, satisfaction with the decision to undergo testing, and attitudes about genetics at age 12 and/or 36 months. Responses were compared between parents who received normal/likely benign results and VUS results.

resultsCompared to normal/likely benign results, parents who received VUS results rated their child as less competent on the BITSEA scale at 12 (β = -1.65, P = .04) though not 36 months (P = .43). There were no differences in parent mood, marital satisfaction, or parenting competence. At 36 months, parents in the VUS group reported less satisfaction with their decision to undergo genetic testing (β = 1.51, P = .02).

conclusionChromosome microarray VUS results have limited impact on parental well-being and perception of children's development. However, the initial diminished perception of child competency and later dissatisfaction with genomic testing indicate the need to assist parents in coping with ambiguous results.

Indexed as

Child DevelopmentPerceptionChild, PreschoolChromosome AberrationsFemaleHumansInfantInfant BehaviorMaleMicroarray AnalysisParent-Child RelationsParentingParentsPrenatal Diagnosis

Identifiers

PMID29956345
PMCPMC6312184
OpenAlexW2810740142

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.