{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T05:22:54Z","timestamp":1779168174272,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T00:00:00Z","timestamp":1577404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte\u2010Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty\u2010six fetuses with VD were identified at a mean gestational age of 20\u2009weeks. Forty\u2010seven (71.2%) had associated antenatal anomalies, most commonly genitourinary, skeletal\/limb, and cardiac anomalies. Thirteen mothers (19.7%) had pregestational diabetes (95% CI [10.1%\u201329.3%]). Fifty\u2010three cases had chromosomal analysis. Three had abnormal results (5.6%): trisomy 13, trisomy 22, and 9q33.1q34.11 deletion. Thirty\u2010four (51.5%) pregnancies were terminated, one led to intrauterine fetal demise and 31 (46.9%) continued to term. Of 27 children who survived the neonatal period, 21 had congenital scoliosis and 3 had spondylocostal dysostosis. Seven had developmental delay. In conclusion, prenatal evaluation of fetuses with VD should include detailed morphological assessment (including fetal echocardiogram), maternal diabetes screening, and chromosomal microarray if non\u2010isolated. Our findings provide guidance about management and counseling after a diagnosis of fetal VD.<\/jats:p>","DOI":"10.1002\/ajmg.a.61468","type":"journal-article","created":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T13:04:16Z","timestamp":1577451856000},"page":"664-672","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2834-6973","authenticated-orcid":false,"given":"Gabrielle T.","family":"Lemire","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, CHU Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Qu\u00e9bec 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Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"Rypens","sequence":"additional","affiliation":[{"name":"Integrated Prenatal Diagnosis Center, CHU Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Department of Medical Imaging, CHU Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Qu\u00e9bec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Wavrant","sequence":"additional","affiliation":[{"name":"Integrated Prenatal Diagnosis Center, CHU Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Qu\u00e9bec Canada"},{"name":"Maternal\u2010Fetal Medicine, CHU Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Qu\u00e9bec 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