Prenatal assessment of Three Rare Syndromes from Telangana region by 3D/4D Sonography

Abstract

Ultrasound imaging serves as a powerful tool in the diagnosis of fetal anomalies. The three and four dimensional ultrasound scan overcomes some of the key limitations related to two-dimensional imaging. It facilitates detailed evaluation of suspected fetal abnormalities of face, neural tube, heart, skeletal and many subtle birth defects, which is pertinent to the pediatric surgeon for timely intervention. It also determines the age and developmental stage of the fetus, detects location and abnormalities of placenta, spot abnormal bleeding, ectopic pregnancies. The present article describes the three rare syndromes Meckel Gruber Syndrome, Holt Oram Syndrome (HOS) and Emanuel syndrome identified. During an attempt to screen a total of 3000 high risk pregnant women for the presence of congenital anomalies by 3D/4D sonography prenatally. Disruption of genes due to deletions and translocation are also identified which could be the putative candidate genes in the syndrome onset.