Fetal Therapy for Isolated Aqueductal Stenosis.

Aqueductal stenosis (AS) is a form of noncommunicating hydrocephalus, which causes increased intracranial pressure secondary to obstruction of the aqueduct of Sylvius. Relief of intracranial pressure in the fetus by ventriculoamniotic shunting may diminish or even prevent permanent neurologic injury. Shunting was attempted in the 1980s but was abandoned due to technical difficulties.

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Objectives: The primary goal of this study was to identify CpG sites in the human genome that are differentially methylated in DNA obtained from chorionic villus sampling (CVS) samples and gestational age-matched maternal blood cell (MBC) samples.

Methods: We used the HumanMethylation27 DNA Analysis BeadChip to characterize DNA methylation in samples of CVS and MBC. We then selected a subset of differentially methylated CpG sites on chromsome 13 and subjected them to analysis by mass spectrometry using the Epityper platform.