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At 21.2\u2009weeks, the anal sphincter could not be demonstrated which was consistent with the diagnosis of isolated anal agenesis. Amniocentesis revealed 46XY karyotype with normal comparative genomic hybridization. After termination of pregnancy at 23\u2009weeks, an autopsy revealed an isolated high type anorectal malformation (ARM) without fistula. We reviewed all 14 cases reported in the literature of first trimester sonographic expression of ARM.<\/jats:p>","DOI":"10.1002\/jcu.22612","type":"journal-article","created":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T12:18:55Z","timestamp":1537359535000},"page":"591-597","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["First trimester expression of anorectal malformation: Case report and review of the literature"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3598-0470","authenticated-orcid":false,"given":"Gad","family":"Liberty","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ron","family":"Bardin","sequence":"additional","affiliation":[{"name":"Helen Schneider Hospital for Women, Rabin Medical Center \u2013 Beilinson Hospital, 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