Prenatal Diagnosis of Trisomy 8 Mosaicism: A Case Report

Abstract

In this report we present a case of partial trisomy 8 referred to our clinic initially due to ultrasonographic finding of lateral ventricular dilatation. The detailed ultrasound scan at 26 weeks’ gestation demonstrated agenesis of corpus callosum and bilateral hidronephrosis in fetus. Later amniocentesis and fetal blood sampling were performed. The case of mosaicisim for partial trisomy 8 was detected in cultured amniotic fluid cells. This karyotypic anomaly was subsequently confirmed by fetal blood sampling as well.

Keywords

• Trisomy 8 mosaicism, Prenatal diagnosis, Ultrasound findings