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Prenatal diagnosis of trisomy 16 mosaicism manifested as pulmonary artery stenosis

✍ Scribed by Nobuhiro Hidaka; Nari Yamamoto; Kiyomi Tsukimori; Satoshi Hojo; Satoshi O. Suzuki; Norio Wake

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 212 KB
Volume: 37
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.20499

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✦ Synopsis

Abstract

Trisomy 16 mosaicism detected at midtrimester amniocentesis is rare and indicative of true fetal mosaicism. We report a case of mosaic trisomy 16 diagnosed by amniocentesis in which the sonographic findings included fetal pulmonary artery stenosis, a single umbilical artery, and early onset fetal growth restriction. The pregnancy was legally terminated. A review of previous reports suggests that abnormalities of outlet tracts are rarely encountered in fetuses with trisomy 16 mosaicism revealed via amniocentesis. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2009

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✍ KRISTIN J. PAULYSON; DAVID M. SHERER; SUSAN L. CHRISTIAN; KERRY M. LEWIS; DAVID 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 1021 KB

We present the first case of an infant with paternally-derived mosaic trisomy 16. Amniocentesis following an elevated maternal serum alpha-fetoprotein level and early fetal growth restriction at 19 weeks detected a high level of mosaicism with 25/33 colonies demonstrating trisomy 16 and 8/33 colonie