• J Clin Ultrasound · Nov 2018

    Review Case Reports

    First trimester expression of anorectal malformation: Case report and review of the literature.

    • Gad Liberty, Ron Bardin, Yinon Gilboa, Ana Tover, Reuven Mashiach, Eyal Mazaki, and Ori Shen.
    • Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon, Israel.
    • J Clin Ultrasound. 2018 Nov 1; 46 (9): 591-597.

    AbstractA 26-years-old woman, underwent an ultrasound examination at 13.4 weeks. A cystic structure was identified in the right lower abdomen. Gradually, the cystic mass was replaced by echogenic content and eventually attained the appearance of hyperechoic bowel. At 21.2 weeks, 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 weeks, 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.© 2018 Wiley Periodicals, Inc.

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