title: Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: a case report and literature review.
abstract: Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, and maternal hypovolemic shock at 35 weeks of gestation. Only 3 non-mosaic trisomy 16 fetuses, including this case, have been reported to survive into the second or third trimester. Furthermore, this fetus would be the first case of complete trisomy 16 manifesting as asplenia syndrome.
authors: Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng-Kung University, Tainan City, Taiwan. sumeitsz@mail.ncku.edu.tw
authors: Mei-Tsz
authors: MT
authors: Su
authors: Yu-Ling
authors: YL
authors: Liang
authors: Jian-Chin
authors: JC
authors: Chen
authors: H Sunny
authors: HS
authors: Sun
authors: Fong-Ming
authors: FM
authors: Chang
authors: Pao-Lin
authors: PL
authors: Kuo
mesh_terms: D000037:Abruptio Placentae / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities; D059446:Heterotaxy Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics; D012769:Shock / Q000175:diagnosis / Q000235:genetics; D014314:Trisomy / Q000235:genetics*