The Incidence of Chromosomal Aberrations in Prenatally Diagnosed Isolated Agenesis of the Corpus Callosum.

Purpose:  To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound.

Materials & Methods:  This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated.

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.

We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only.

Isolated cardiomegaly in the second trimester as an early sign of fetal hydrops due to intracranial arteriovenous malformation.

We report the case of a 27-year-old pregnant woman in whom isolated mild fetal cardiomegaly, diagnosed prenatally on sonographic examination at 22 weeks' menstrual age, was the first sign of development of an arteriovenous malformation of the vein of Galen. The arteriovenous malformation was visualized on sonographic examination at 29 weeks' menstrual age; prenatal MRI at 32 weeks confirmed the diagnosis. At 34 weeks' menstrual age, repeat sonographic examination demonstrated polyhydramnios, cardiomegaly, and generalized hydrops with ascites and pleural effusion.