Prenatal diagnosis of trisomy 16 mosaicism manifested as pulmonary artery stenosis.
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.
Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashiku, Fukuoka, Japan.
Nobuhiro
N
Hidaka
Nari
N
Yamamoto
Kiyomi
K
Tsukimori
Satoshi
S
Hojo
Satoshi O
SO
Suzuki
Norio
N
Wake
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D044466:Asian People; D001344:Autopsy; D002885:Chromosomes, Human, Pair 16 / Q000000981:diagnostic imaging* / Q000235:genetics; D003251:Constriction, Pathologic / Q000000981:diagnostic imaging; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011651:Pulmonary Artery / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D016216:Ultrasonography, Prenatal; D014469:Umbilical Arteries / Q000002:abnormalities / Q000000981:diagnostic imaging; D054079:Vascular Malformations / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology