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ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

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

Deepika MLN1, Sunitha T1, Srinadh B1, Prasoona KR1, Sujatha M1, Ramaiah A2, Jyothy A1 and Pratibha N1*

1Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana, India

2Modern Government Maternity Hospital, Hyderabad, Telangana, India

*Corresponding Author:
Prof. Pratibha Nallari Director
Institute of Genetics and Hospital for Genetic Diseases
Osmania University, Begumpet, Hyderabad-500016
Telangana, India
Tel: +91-8885486499; 040-23403681
E-mail: [email protected]

Received date: August 05, 2016; Accepted date: October 18, 2016; Published date: October 25, 2016

Citation: Deepika MLN, Sunitha T, Srinadh B, Rebekah Prasoona K, Sujatha M, et al. (2016) Prenatal Assessment of Three Rare Syndromes from Telangana Region by 3D/4D Sonography. J Genet Syndr Gene Ther 7: 309. doi: 10.4172/2157-7412.1000309

Copyright: © 2016 Deepika MLN, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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.

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