{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:04:38Z","timestamp":1791828278108,"version":"4.3.4"},"reference-count":38,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND:<\/jats:title>\n                    <jats:p>Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In clinical practice, genetic testing continues to evolve, and the incorporation of rapid genome sequencing (rGS) in CHD is a recent development that requires evaluation. Although smaller studies demonstrate the value of rGS, they also highlight the burden of results interpretation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS:<\/jats:title>\n                    <jats:p>We analyzed genetic testing in CHD at 2 time points, in 2018 and from 2022 to 2023, across a change in clinical testing guidelines from chromosome microarray to rGS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>In an analysis of 421 hospitalized infants with CHD, genetic testing was performed in 77.7%, and the rate was consistent across time and in all patient subtypes analyzed. There was a significant shift in testing modalities, where in 2018, chromosome microarray was the most common test performed, with diagnostic results for CHD in 14.3%, whereas in 2022 to 2023, rGS was the most frequent test performed, with results diagnostic for CHD in 16.9%. In addition, rGS identified 44% more unique genetic diagnoses than chromosome microarray.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>This is the most extensive study to highlight the value of rGS in patients with CHD. These findings have important implications for CHD patient management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgen.125.005367","type":"journal-article","created":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T09:00:18Z","timestamp":1775811618000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects"],"prefix":"10.1161","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1686-903X","authenticated-orcid":true,"given":"Matthew D.","family":"Durbin","sequence":"first","affiliation":[{"name":"Indiana University School of Medicine (M.D.D., L.R.H., A.P., S.X.Z., D.A., G.C.G., B.M.H., B.J.L., A.M.E., D.K.M., S.M.W.)."},{"name":"Herman B Wells Center for Pediatric Research, Department of Pediatrics, Indiana University Indianapolis (M.D.D., B.J.L., S.M.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4234-419X","authenticated-orcid":true,"given":"Lindsey R.","family":"Helvaty","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine (M.D.D., L.R.H., A.P., S.X.Z., D.A., G.C.G., B.M.H., B.J.L., A.M.E., D.K.M., S.M.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1076-1284","authenticated-orcid":true,"given":"Alyx","family":"Posorske","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine (M.D.D., L.R.H., A.P., S.X.Z., D.A., G.C.G., B.M.H., B.J.L., A.M.E., D.K.M., S.M.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0791-2202","authenticated-orcid":true,"given":"Samuel X.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Indiana University School of Medicine (M.D.D., L.R.H., A.P., S.X.Z., D.A., G.C.G., 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