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.
Hidaka
Nobuhiro
N
Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashiku, Fukuoka, Japan.
Yamamoto
Nari
N
Tsukimori
Kiyomi
K
Hojo
Satoshi
S
Suzuki
Satoshi O
SO
Wake
Norio
N
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