{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T08:07:47Z","timestamp":1784275667046,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"5-6","license":[{"start":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T00:00:00Z","timestamp":1773273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T00:00:00Z","timestamp":1773273600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Exome sequencing (ES) and gene panels can be considered for fetal anomalies. Whether ES offers substantial benefit over targeted panels is not clear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Secondary analysis of a prospective cohort study of pregnancies with fetal anomalies undergoing ES. We included cases with isolated or multisystem skeletal dysplasias, CNS anomalies, and\/or cardiac anomalies. Participants underwent ES, and pathogenic (P) and likely pathogenic (LP) variants were reported. The primary outcome was the percentage of P\/LP variants found on ES that would have been identified on panels available prenatally in the United States.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      109 cases with relevant anomalies were included in the primary analysis. Of these, 20 (18%) had P\/LP variant(s) identified on ES\u20144 multisystem, 4 isolated CNS, 6 isolated cardiac, and 6 isolated skeletal dysplasia. Gene panels would have detected 50 (88%) of the variants identified by ES. Yield was highest for isolated skeletal anomalies (100%) compared to CNS and cardiac malformations (75% and 67%,\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a00.02). Yield was higher for isolated anomalies than multisystem anomalies (median 91.5% vs. 50%,\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0&lt;\u00a00.01).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In cases of fetal anomalies with genetic etiologies identified on ES, commercial gene panels had variable diagnostic yields. Panels performed worst for multisystem anomalies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70118","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T04:20:26Z","timestamp":1773375626000},"page":"643-649","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1174-1501","authenticated-orcid":false,"given":"Kate","family":"Swanson","sequence":"first","affiliation":[{"name":"Department of Obstetrics, Gynecology, and Reproductive Sciences Division of Maternal\u2010Fetal Medicine University of California  San Francisco California USA"},{"name":"Department of Pediatrics Division of Medical Genetics University of California  San Francisco California USA"},{"name":"Department of Obstetrics &amp; Gynecology Division of Maternal\u2010Fetal Medicine Intermountain Healthcare  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Shear","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology, and Reproductive Sciences Division of Maternal\u2010Fetal Medicine University of California  San Francisco California USA"},{"name":"Department of Pediatrics Division of Medical Genetics University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8593-2186","authenticated-orcid":false,"given":"Teresa N.","family":"Sparks","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology, and Reproductive Sciences Division of Maternal\u2010Fetal Medicine University of California  San Francisco California USA"},{"name":"Center for Maternal\u2010Fetal Precision Medicine University of California  San Francisco California USA"},{"name":"Institute for Human Genetics University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuriye N.","family":"Sahin\u2010Hodoglugil","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology, and Reproductive Sciences Division of Maternal\u2010Fetal Medicine University of California  San Francisco California USA"},{"name":"Center for Maternal\u2010Fetal Precision Medicine University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2661-6642","authenticated-orcid":false,"given":"Billie R.","family":"Lianoglou","sequence":"additional","affiliation":[{"name":"Center for Maternal\u2010Fetal Precision Medicine University of California  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E.","family":"Norton","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology, and Reproductive Sciences Division of Maternal\u2010Fetal Medicine University of California  San Francisco California USA"},{"name":"Center for Maternal\u2010Fetal Precision Medicine University of California  San Francisco California USA"},{"name":"Institute for Human Genetics University of California  San Francisco California 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