Hydrops fetalis, thickened placenta and other sonographic findings in a low-level trisomy 21 mosaicism: a case report.
We report a case of trisomy 21 mosaicism detected upon amniocentesis in a 36-year-old woman. Ultrasound examination at 23 weeks' gestation showed a fetus with hydrops, pulmonary hypoplasia, oligohydramnios, thickened placenta, and intrauterine growth retardation. Cytogenetic analysis revealed low-percentage (6%) mosaicism for trisomy 21. Hydrops fetalis and thickened placenta are uncommon findings in fetuses affected by trisomy 21 mosaicism. A short review of the literature is given regarding the sonographic findings associated with trisomy 21 mosaicism, and the genetic counseling in such cases.
Sifakis
S
S
Department of Obstetrics and Gynecology, University Hospital of Heraklion, Heraklion, Greece. sifakis@excite.com
Koukoura
O
O
Mantas
N
N
Velissariou
V
V
Koumantakis
E
E
D000328:Adult; D000649:Amniocentesis; D004314:Down Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000235:genetics; D008171:Lung Diseases / Q000000981:diagnostic imaging; D009030:Mosaicism; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D010922:Placenta Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal