A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

dc.contributor.authorDurbin, Matthew D.
dc.contributor.authorHelvaty, Lindsey R.
dc.contributor.authorLi, Ming
dc.contributor.authorBorder, William
dc.contributor.authorFitzgerald-Butt, Sara
dc.contributor.authorGarg, Vidu
dc.contributor.authorGeddes, Gabrielle C.
dc.contributor.authorHelm, Benjamin M.
dc.contributor.authorLalani, Seema R.
dc.contributor.authorMcBride, Kim L.
dc.contributor.authorMcEntire, Alexis
dc.contributor.authorMitchell, Dana K.
dc.contributor.authorMurali, Chaya N.
dc.contributor.authorWechsler, Stephanie B.
dc.contributor.authorLandis, Benjamin J.
dc.contributor.authorWare, Stephanie M.
dc.contributor.departmentPediatrics, School of Medicine
dc.date.accessioned2025-01-23T12:10:14Z
dc.date.available2025-01-23T12:10:14Z
dc.date.issued2023-04-29
dc.description.abstractPurpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined diagnostic yield of testing, and identified phenotypic features associated with abnormal results. Methods: This is a multicenter cross-sectional study of 5 large children's hospitals, including 2899 children ≤14 months undergoing surgical repair for CHD from 2013 to 2016, followed by multivariate logistics regression analysis. Results: Genetic testing occurred in 1607 of 2899 patients (55%). Testing rates differed highly between institutions (42%-78%, P < .001). Choice of testing modality also differed across institutions (ie, chromosomal microarray, 26%-67%, P < .001). Genetic testing was abnormal in 702 of 1607 patients (44%), and no major phenotypic feature drove diagnostic yield. Only 849 patients were seen by geneticists (29%), ranging across centers (15%-52%, P < .001). Geneticist consultation associated with increased genetic testing yield (odds ratio: 5.7, 95% CI 4.33-7.58, P < .001). Conclusion: Genetics evaluation in CHD is diagnostically important but underused and highly variable, with high diagnostic rates across patient types, including in infants with presumed isolated CHD. These findings support recommendations for comprehensive testing and standardization of care.
dc.eprint.versionFinal published version
dc.identifier.citationDurbin MD, Helvaty LR, Li M, et al. A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices. Genet Med Open. 2023;1(1):100814. Published 2023 Apr 29. doi:10.1016/j.gimo.2023.100814
dc.identifier.urihttps://hdl.handle.net/1805/45409
dc.language.isoen_US
dc.publisherElsevier
dc.relation.isversionof10.1016/j.gimo.2023.100814
dc.relation.journalGenetics in Medicine Open
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalen
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0
dc.sourcePMC
dc.subjectCardiovascular genetics
dc.subjectCongenital heart disease
dc.subjectGenetic testing
dc.titleA multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices
dc.typeArticle
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