{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T17:11:28Z","timestamp":1793034688921,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a retrospective analysis of the ES results of 629 fetuses with isolated or multiple anomalies referred in 2019\u20132022. Variants in a gene panel consisting of approximately 3400 genes associated with multiple congenital anomalies and\/or intellectual disability were analyzed. We used trio analysis and filtering for de novo variants, compound heterozygous variants, homozygous variants, X\u2010linked variants, variants in imprinted genes, and known pathogenic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Pathogenic and likely pathogenic variants (class five and four, respectively) were identified in 14.0% (88\/629, 95% CI 11.5%\u201316.9%) of cases. In the current cohort, the probability of detecting a monogenetic disorder was \u223c1:7 (88\/629, 95% CI 1:8.7\u20131:5.9), ranging from 1:9 (49\/424) in cases with one major anomaly to 1:5 (32\/147) in cases with multiple system anomalies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our results indicate that a notable number of fetuses (1:7) with ultrasound anomalies and a normal chromosomal microarray have a (likely) pathogenic variant that can be detected through prenatal ES. These results warrant implementation of exome sequencing in selected cases, including those with an isolated anomaly on prenatal ultrasound.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6676","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T22:44:03Z","timestamp":1727736243000},"page":"1444-1450","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2637-9998","authenticated-orcid":false,"given":"Karin E. M.","family":"Diderich","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie T.","family":"Bruggenwirth","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke","family":"Joosten","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florentine","family":"Thurik","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jona","family":"Mijalkovic","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marike","family":"Polak","sequence":"additional","affiliation":[{"name":"Department of Psychology, Education &amp; Child Studies (DPECS) Erasmus University Rotterdam  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan","family":"Kromosoeto","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galhana M.","family":"Somers\u2010Bolman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myrthe","family":"van den Born","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Drost","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Jan H.","family":"Galjaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sander","family":"Galjaard","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Erasmus MC University Medical Centre Rotterdam  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies H.","family":"Hoefsloot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten F. C. M.","family":"Knapen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Erasmus MC University Medical Centre Rotterdam  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rick","family":"van Minkelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vyne","family":"van der Schoot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon A.","family":"van Slegtenhorst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Sleutels","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0257-2059","authenticated-orcid":false,"given":"Kyra E.","family":"Stuurman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein J. 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