BARDET BIEDL SYNDROME IN PREGNANCY A CASE REPORT

ABSTRACT

Bardet Biedl Syndrome (BBS) is a rare idiopathic autosomal recessive disorder which affects multiple organs and organ systems. In India less than 15 cases have been reported so far. We present case of 41 year old third gravida who presented at 17 weeks of gestation. She had a suspicious history of delayed milestones in the previous child and ultrasound findings of echogenic kidneys, bilateral talipes, and polydactyly. Index child evaluation showed type-6 variant of BBS. Amniocentesis in the present pregnancy showed the same mutation in the fetus. The couple decided on termination of t pregnancy.