{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:31:08Z","timestamp":1790767868193,"version":"4.1.0"},"reference-count":40,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy. Appropriate fetal tissues were obtained to perform genomic testing. We observed trisomy 18 in 16 fetuses (2%) in our cohort of 784 fetal\/neonatal losses and a perinatal autopsy was performed on all of them. Abnormal facial profile was the most frequent anomaly (10\/16, 62%) followed by anomalies of the extremities (9\/16, 56%), and cardiac defects (6\/16, 37%). We also observed esophageal atresia, diaphragmatic hernia, and neural tube defect. The study represents one of the largest cohorts of trisomy 18 from a perinatal center from a developing country and highlights the clinical heterogeneity attributed to trisomy 18. We also report a recurrence of trisomy 18 in a family.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000481","type":"journal-article","created":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T12:00:26Z","timestamp":1701432026000},"page":"16-26","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience"],"prefix":"10.1097","volume":"33","author":[{"given":"Mangalore S.","family":"Shravya","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"},{"name":"Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini S.","family":"Nayak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,11,29]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/jp.2016.245","article-title":"Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18.","volume":"37","author":"Acharya","year":"2017","journal-title":"J Perinatol"},{"key":"R2-20250524","first-page":"10556656231163722","article-title":"Ethical implications of cleft lip and palate repair in patients with trisomy 13 and 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