Rapid Diagnosis of Trisomy 21 by Array Comparative Genomic Hybridization using Uncultured Amniocytes in a Pregnancy with Isolated Ventriculomegaly in the Fetus

Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia

“…We have previously reported such an application in pregnancies with major fetal structural abnormalities such as cases of isolated ventriculomegaly [1], cystic hygroma and ventriculomegaly [2], fetal nuchal edema and mild ascites [3], and a ventricular septal defect and bilateral ventriculomegaly [4]. Here, we present an additional case of right congenital diaphragmatic hernia (CDH) associated with trisomy 21.…”