Evidence map›Paper›PMID 41362834›Full record

ArticleGenetics in medicine open2025

Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study.

Jacqui McCoy, Cecilia Pynaker, Sharon Lewis, David J Amor, Fiona Norris, Lucy Gugasyan, George McGillivray, Susan Fawcett, Matthew Regan, Joanne M Said and 8 more

Abstract read
PubMed Full text at PMC Publisher
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Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

18 authors.

Jacqui McCoyReproductive Epidemiology group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Cecilia PynakerReproductive Epidemiology group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Sharon LewisReproductive Epidemiology group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
David J AmorDepartment of Paediatrics, University of Melbourne, Parkville, VIC, Australia.
Fiona NorrisVictorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia.
Lucy GugasyanMonash Health Pathology, Monash Medicine Centre, Clayton, VIC, Australia.
George McGillivrayMercy Perinatal; Mercy Hospital for Women, Heidelberg, VIC, Australia.
Susan FawcettThe Royal Women's Hospital, Parkville, VIC, Australia.
Matthew ReganMonash Genetics, Monash Health, Monash Medicine Centre, Clayton, VIC, Australia.
Joanne M SaidDepartment of Obstetrics, Gynaecology and Newborn Health, University of Melbourne, Parkville, VIC, Australia.
Lisa BeggEastern Health, Box Hill Hospital, Box Hill, VIC, Australia.
Natasha FrawleyGrampians Health, Ballarat Base Hospital, Ballarat, VIC, Australia.
Nicola YuenBendigo Health, Bendigo, VIC, Australia.
Ron WapnerColumbia University Medical Center.
Brynn LevyColumbia University Medical Center.
Susan P WalkerMercy Perinatal; Mercy Hospital for Women, Heidelberg, VIC, Australia.
Jane HallidayReproductive Epidemiology group, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Lisa HuiReproductive Epidemiology group, Murdoch Children's Research Institute, Parkville, VIC, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The long-term developmental outcomes of children with a prenatal diagnosis of a copy-number variant of uncertain significance (VUS) remain unclear. This study compared the developmental, social-emotional, and health outcomes of children with and without a prenatal VUS, assessed maternal perceptions of their child's health and development, and examined the reclassification rate of VUS after more than 2 years. Methods: Women who underwent prenatal chromosomal microarray testing in Victoria, Australia (2013-2019), were recruited retrospectively (2021-2023). Children with a VUS (cases) were compared with controls without a VUS. We assessed a range of cognitive, developmental, and health outcomes in the children, who were on average 6 years old. Statistical analyses compared group outcomes and adjusted for maternal sociodemographic factors. Results: The study included 134 mother-child pairs (46 with a VUS and 88 controls). No significant differences were found between groups in intellectual functioning, adaptive behavior, or social-emotional measures. Maternal perceptions of their child and family well-being were also similar. Reanalysis reclassified 66.0% of VUS as benign and 8.5% as pathogenic. Conclusion: Children with a prenatal VUS diagnosis have developmental outcomes and family well-being comparable to those without. These findings contribute valuable evidence to support prenatal genetic counseling and clinical laboratory reporting practices.

Indexed as

Chromosomal microarray analysisCognitive functionCopy-number variantsPrenatal diagnosisVariant of uncertain significance

Identifiers

PMID41362834
PMCPMC12681968

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