Evidence map›Paper›PMID 42776142›Full record

ArticlePrenatal diagnosis2026

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP).

Stephanie N Galloway, Jessica L Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J Wapner, Wendy Chung, Ignatia B Van den Veyver

Abstract read
In one paragraph

Article in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Stephanie N GallowayDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA.
Jessica L GiordanoDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA.ORCID https://orcid.org/0000-0002-2265-0691
Carrie ShawberDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA.ORCID https://orcid.org/0000-0003-2654-3559
Natalie ChandlerNorth Thames NHS Regional Genetics Service, Great Ormond Street NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0003-1396-0740
Lauren WesterfieldDepartment of Obstetrics & Gynecology, Baylor College of Medicine, Houston, Texas, USA.ORCID https://orcid.org/0000-0002-0878-6808
Prenatal GCEP Panel membersA complete list of members and affiliations appears in Supporting Information S1.
Ronald J WapnerDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York, USA.ORCID https://orcid.org/0000-0003-0727-1244
Wendy ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.ORCID https://orcid.org/0000-0003-3438-5685
Ignatia B Van den VeyverDepartment of Obstetrics & Gynecology, Baylor College of Medicine, Houston, Texas, USA.ORCID https://orcid.org/0000-0002-0651-5924

Funding

ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
Prenatal Gene Curation Expert Panel for Severe Structural Anomalies and StillbirthU24HD104588 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, IGNATIA B VAN DEN VEYVER · 2021 to 2026
$1.4M
Eunice Kennedy Shriver National Institute of Child Health and Human Development U24HD104588NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24HG006834NICHD NIH HHS U24 HD104588NIH HHS
6 · The paper itself

Abstract

objectiveExpert prenatal focused gene-disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing.

methodsAn international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe anomalies using the ClinGen framework.

resultsThe ClinGen Prenatal GCEP published evidence summaries for 63 disease relationships involving 61 genes with unique and clinically severe prenatally observed fetal phenotypes.

conclusionThe ClinGen Prenatal GCEP work addresses a gap in genomic medicine by deepening our understanding of lethal and severe prenatal phenotypes, while supporting accurate diagnosis, counseling, and future treatment strategies in prenatal care.

Indexed as

Genome, HumanPrenatal DiagnosisFemaleHumansPregnancy

Identifiers

PMID42776142
PMCPMC13659245

What OpenQuestion holds

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Registered trials

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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.