Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.
We report a case of a 23-year-old pregnant woman, who underwent amniocentesis after ultrasound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US evaluation in the second trimester revealed Dandy-Walker malformation, ventriculomegaly, bilateral clubfoot, lip and palate clefts, arthrogryposis and hyperechoic kidneys with bilateral pelvic dilatation. At 30 weeks of gestation, a placental abruption was noted and a Cesarean section was performed. The infant died shortly after birth. A review of previous cases of tetrasomy 9p shows that the remarkable sonographic findings are ventriculomegaly, intrauterine growth restriction, genitourinary anomaly, Dandy-Walker malformation, cleft lip/palate and limb malformation, but the association of tetrasomy 9p and increased nuchal translucency had not been reported.
Nakamura-Pereira
Marcos
M
Fetal Medicine Unit, Department of Obstetrics, Fernandes Figueira Institute, Oswaldo Cruz Foundation (IFF-FIOCRUZ), Flamengo Rio de Janeiro, RJ, Brazil.
Cima
Luciana Carneiro do
LC
Llerena
Juan Clinton
JC
Guerra
Fernando Antonio Ramos
FA
Peixoto-Filho
Fernando Maia
FM
D000649:Amniocentesis; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000379:methods*; D011247:Pregnancy; D055815:Young Adult