Prenatal diagnosis of trisomy 16 mosaicism manifested as pulmonary artery stenosis

Nobuhiro Hidaka1, Nari Yamamoto, Kiyomi Tsukimori

  • 1Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashiku, Fukuoka, Japan.

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.

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