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Case Reports in Genetics
Volume 2013 (2013), Article ID 159143, 3 pages
http://dx.doi.org/10.1155/2013/159143
Case Report

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

1Department of Obstetrics and Gynecology, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20889, USA
2Prenatal Assessment Center, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA
3Medical Genetics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA
4Maternal-Fetal Medicine, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA

Received 19 December 2012; Accepted 3 February 2013

Academic Editors: Y. Ban, P. D. Cotter, P. Gao, and A. Sazci

Copyright © 2013 Tieneka M. Baker et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history.