{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T16:09:41Z","timestamp":1787587781355,"version":"build-2736575974"},"reference-count":52,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T00:00:00Z","timestamp":1651017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The diagnostic yield for congenital heart defects (CHD) with routine genetic testing is around 10%\u201320% when considering pathogenic CNVs or aneuploidies as positive findings. This is a pilot study to investigate the utility of genome sequencing (GS) for prenatal diagnosis of CHD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genome sequencing (GS, 30X) was performed on 13 trios with CHD for which karyotyping and\/or chromosomal microarray results were non\u2010diagnostic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Trio GS provided a diagnosis for 4\/13 (30.8%) fetuses with complex CHDs and other structural anomalies. Findings included pathogenic or likely pathogenic variants in\n                      <jats:italic>DNAH5<\/jats:italic>\n                      ,\n                      <jats:italic>COL4A1<\/jats:italic>\n                      ,\n                      <jats:italic>PTPN11<\/jats:italic>\n                      , and\n                      <jats:italic>KRAS<\/jats:italic>\n                      . Of the nine cases without a genetic etiology by GS, we had outcome follow\u2010up data on eight. For five of them (60%), the parents chose to keep the pregnancy. A balanced translocation [46,XX,t(14; 22)(q32.33; q13.31)mat] was detected in a trio with biallelic\n                      <jats:italic>DNAH5<\/jats:italic>\n                      mutations, which together explained the recurrent fetal situs inversus and dextrocardia that was presumably due to\n                      <jats:italic>de novo<\/jats:italic>\n                      Phelan\u2010McDermid syndrome. A secondary finding of a\n                      <jats:italic>BRCA2<\/jats:italic>\n                      variant and carrier status of\n                      <jats:italic>HBB<\/jats:italic>\n                      ,\n                      <jats:italic>USH2A<\/jats:italic>\n                      ,\n                      <jats:italic>HBA1\/HBA2<\/jats:italic>\n                      were detected in the cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>GS expands the diagnostic scope of mutation types over conventional testing, revealing the genetic etiology for fetal heart anomalies. Patients without a known genetic abnormality indicated by GS likely opted to keep pregnancy especially if the heart defect could be surgically repaired. We provide evidence to support the application of GS for fetuses with CHD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6151","type":"journal-article","created":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T06:28:34Z","timestamp":1650436114000},"page":"862-872","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5712-1968","authenticated-orcid":false,"given":"Y.","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Paediatrics The Chinese University of Hong Kong  Shatin Hong Kong SAR China"},{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong SAR China"},{"name":"Laboratory Genetics and Genomics Shenzhen Research Institute The Chinese University of Hong Kong  Shenzhen China"},{"name":"Fertility Preservation Research Centre Department of Obstetrics and Gynaecology The Chinese University of Hong Kong  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0945-1938","authenticated-orcid":false,"given":"M. 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