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Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (<jats:italic>n<\/jats:italic> = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9\u2009years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61639","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T08:20:39Z","timestamp":1592900439000},"page":"1890-1895","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5636-7317","authenticated-orcid":false,"given":"Mersedeh","family":"Rohanizadegan","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Tracy","sequence":"additional","affiliation":[{"name":"Department of Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9702-6108","authenticated-orcid":false,"given":"Carolina I.","family":"Galarreta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Division of Genetics\/Dysmorphology, Rady Children's Hospital San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabitha","family":"Poorvu","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Maternal Fetal Care Center Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry L.","family":"Buchmiller","sequence":"additional","affiliation":[{"name":"Department of Surgery Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Maternal Fetal Care Center Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Division of Genetics\/Dysmorphology, Rady Children's Hospital San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy A.","family":"Estroff","sequence":"additional","affiliation":[{"name":"Maternal Fetal Care Center Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Department of Radiology Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1593-6149","authenticated-orcid":false,"given":"Wen\u2010Hann","family":"Tan","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.009"},{"key":"e_1_2_9_3_1","unstructured":"Center for Disease Control and Prevention. 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