A Case of Rapid Diagnosis of Down Syndrome by FISH

Gina Yoo, Won Hee Yoon, Hyum Sook Kim, Mi Young Park, Young Ju Kim, Jung Ja Ahn, Bock Hi Woo

Copyright ⓒ 1997. Ewha Womans University School of Medicine. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Published Online: Jul 24, 2015

Abstract

Down syndrome is the most common autosomal abnormality disease which has multiple congenital anomalies, occurring in 1 of every 800 liveborn infants. Neonates who are affected with this disease comprise majority of the mentally retarded children. To prevent the birth of this congenital anomaly, prenatal diagnosis of Doen syndrome is important. We experienced a case of Down syndrome, diagnosed by fluorescence in situ hybridization(FISH) in pregnancy for 15 weeks 6 days. We report here eith a brief review of the literatures.

Keywords: Down syndrome; Prenatal diagnosis; Fluorescence in situ hybridization