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

Tieneka M Baker,Erica L Sturm,Clesson E Turner,Scott M Petersen

doi:10.1155/2013/159143

Tieneka M Baker, Erica L Sturm + Show 2 more

Open Access

https://doi.org/10.1155/2013/159143

Copy DOI

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.

Highlights

Postnatal diagnosis of Bardet-Biedl syndrome (BBS; OMIM number 209900) is generally established by clinical findings
There are several reports outlining the use of ultrasound in the diagnosis of BBS in the antenatal period
Homozygosity testing via single nucleotide polymorphism (SNP) microarray analysis in individuals affected with BBS has been well established in identifying new genes and mutations in a research setting [4, 5]

Summary

Introduction

Postnatal diagnosis of Bardet-Biedl syndrome (BBS; OMIM number 209900) is generally established by clinical findings. Homozygosity testing via single nucleotide polymorphism (SNP) microarray analysis in individuals affected with BBS has been well established in identifying new genes and mutations in a research setting [4, 5]. There are no documented cases of homozygosity testing utilizing SNP analysis in assisting with prenatal diagnosis of BBS after miscarriage or abortion in a family without a documented family history of the disease.

Results

Conclusion