Evidence map›Paper›PMID 41094179›Full record

ArticleCommunications medicine2025

Associations of maternal and paternal characteristics with cardiac malformations using real-world data and machine learning.

Jeremy P Brown, Krista F Huybrechts, Loreen Straub, Dominik Heider, Brian T Bateman, Sonia Hernández-Díaz

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Article in Communications medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Jeremy P BrownDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA. jeremybrown@hsph.harvard.edu.ORCID http://orcid.org/0000-0002-9941-7759
Krista F HuybrechtsDivision of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Loreen StraubDivision of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-2623-2726
Dominik HeiderInstitute of Medical Informatics, University of Münster, Münster, Germany.
Brian T BatemanDepartment of Anesthesiology, Perioperative and Pain Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Sonia Hernández-DíazDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1458-7642

Funding

RESEARCH TRAINING IN PEDIATRIC EMERGENCY MEDICINET32HD040128 · NICHD · CHILDREN'S HOSPITAL BOSTON · PI Kenneth D. Mandl · 2001 to 2026
$5.0M
Impact of obesity treatments on subsequent pregnancy outcomesR01HD097778 · NICHD · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI Sonia Hernandez-Diaz · 2019 to 2026
$4.2M
NICHD NIH HHS R01 HD097778NICHD NIH HHS T32 HD040128
6 · The paper itself

Abstract

backgroundEffective prevention of cardiac malformations is constrained by limited understanding of etiology. We used 2011-2021 MarketScan US insurance claims data to identify and characterize associations between maternal and paternal characteristics and non-chromosomal cardiac malformations.

methodsAmong 693,483 singleton live-birth pregnancies of women linked to infants (of which 488,146 linked to fathers), odds ratios were estimated between 2000 clinical diagnostic and medication codes (500 clinical and 500 medication codes each for mothers and fathers) and cardiac malformations (n = 7522 affected pregnancies) using logistic regression. Associations were selected using procedures to control the false discovery rate (FDR). Selected codes were grouped using latent semantic analysis alongside hierarchical clustering.

resultsAt the 5% FDR, 67 codes are selected of which 63 are maternal and four paternal. Elevated risk with maternal diabetes, obesity, and chronic hypertension, highlights the importance of maternal cardiometabolic health for cardiac malformations. Additional potential signals included maternal fingolimod or azathioprine use. The relative lack of paternal associations is consistent with prior findings of few replicated associations with paternal non-genetic exposures.

conclusionsScreening associations, with interpretation aided by unsupervised machine learning methods, identifies, in this study, both known risk factors and potential signals. Signals might be explained by confounding, other systematic errors, or chance, and warrant further investigation.

Identifiers

PMID41094179
PMCPMC12528688

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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.