VP28.12: Determinant genes that effect the central nervous system and their antenatal identification.

Aims and objectives of the study was to determine the genetic mutations responsible for CNS mutation and tubulinopathies and to determine the mode of investigation and associated features seen on non-invasive antenatal modalities. Patients with CNS genetic syndromes or tubulinopathies in fetus of the present pregnancy or previous pregnancy who presented themselves only for genetic counseling with the genetic analysis report done at an outside diagnostic centre were selected. [Extracted from the article]