Evidence mapPaperPMID 40209713Full record

ReviewAmerican journal of human genetics2025

Advancing precision care in pregnancy through a treatable fetal findings list.

Jennifer L Cohen, Michael Duyzend, Sophia M Adelson, Julie Yeo, Mark Fleming, Rebecca Ganetzky, Rebecca Hale, Deborah M Mitchell, Sarah U Morton, Rebecca Reimers and 7 more

Abstract readReview
In one paragraph

Review in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.American journal of medical genetics. Part C, Seminars in medical genetics · 2025
    Review
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

17 authors.

Jennifer L CohenDepartment of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA.
Michael DuyzendDepartment of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sophia M AdelsonBrigham and Women's Hospital, Boston, MA, USA; Stanford School of Medicine, Stanford, CA, USA.
Julie YeoDepartment of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
Mark FlemingDepartment of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Rebecca GanetzkyCenter for Computational Genomic Medicine and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA.
Rebecca HaleDepartment of Pediatrics, Division of Immunology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Deborah M MitchellDivision of Pediatric Endocrinology, Massachusetts General Hospital, Boston, MA, USA.
Sarah U MortonDepartment of Pediatrics, Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Rebecca ReimersRady Children's Institute for Genomic Medicine, Rady Children's Hospital Division of Perinatology, Scripps Research Translational Institute, University of California, San Diego, San Diego, CA, USA.
Amy RobertsDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA; Department of Cardiology, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Alanna StrongDepartment of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Weizhen TanDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA; Division of Pediatric Nephrology, Massachusetts General Hospital for Children, Boston, MA, USA.
Jay R ThiagarajahDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
Melissa A WalkerDepartment of Neurology, Division of Pediatric Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Robert C GreenMass General Brigham, Boston, MA, USA; Broad Institute, Cambridge, MA, USA; Ariadne Labs, Boston, MA, USA.
Nina B GoldDepartment of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: ngold@mgh.harvard.edu.

Funding

COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepositoryRC2DK118640 · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2025 to 2025
$2.0M
Novel gene discovery in disorders of the liver and biliary treeK08DK128606 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · 2023 to 2025
$492k
Genome-first approach to treatable genetic conditions in adultsK08HG012811 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · 2024 to 2025
$460k
Integration of RNA and Genome Sequences to Identify Genetic Risk in Hypoplastic Left Heart SyndromeK08HL157653 · NHLBI · BOSTON CHILDREN'S HOSPITAL · 2023 to 2025
$336k
Determinants of bone microarchitectural compromise in youth with type 1 diabetesR01DK122581 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MARY L BOUXSEIN, Madhusmita Misra · 2023 to 2023
$300k
Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial DiseaseK08NS117889 · MASSACHUSETTS GENERAL HOSPITAL · 2025 to 2025
$201k
Developing strategies to identify candidate individuals for early genetic therapiesK23HD113824 · DUKE UNIVERSITY · 2025 to 2025
$153k
NCATS NIH HHS KL2 TR002552NCATS NIH HHS U01 TR003201NHGRI NIH HHS K08 HG012811NHLBI NIH HHS K08 HL157653NICHD NIH HHS F32 HD112084NICHD NIH HHS K23 HD113824NICHD NIH HHS U19 HD077671NIDDK NIH HHS K08 DK128606NIDDK NIH HHS R01 DK122581NIDDK NIH HHS RC2 DK118640NIDDK NIH HHS RC2 DK122532NINDS NIH HHS K08 NS117889
6 · The paper itself

Abstract

The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype but may be relevant to fetal and newborn health. There are currently no guidelines for reporting incidental findings from fetal GS. In the United States, GS for adults and children is recommended to include a list of "secondary findings" genes (ACMG SF v.3.2) that are associated with disorders for which surveillance or treatment can reduce morbidity and mortality. The genes on ACMG SF v.3.2 predominantly cause adult-onset disorders. Importantly, many genetic disorders with fetal and infantile onset are treatable as well. A proposed solution is to create a "treatable fetal findings list," which can be offered to pregnant individuals undergoing fetal GS or, eventually, as a standalone cell-free fetal DNA screening test. In this integrative review, we propose criteria for a treatable fetal findings list, then identify genetic disorders with clinically available or emerging fetal interventions and those for which clinical detection and intervention in the first week of life might lead to improved outcomes. Finally, we synthesize the potential benefits, limitations, and risks of a treatable fetal findings list.

Indexed as

FetusGenetic Diseases, InbornPrecision MedicinePrenatal DiagnosisFemaleGenetic TestingHumansIncidental FindingsPregnancyactionable findingsgenomic sequencingprenatal diagnosisprenatal therapies

Identifiers

PMID40209713
PMCPMC12256799

What Socratic holds

Textmetadata
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.