EP06.19: Prenatal diagnosis of Bardet‐Biedl Syndrome

The prenatal finding of echogenic kidneys raises the suspicion for genetic abnormalities, such as Trisomy 13 or autosomal recessive polycystic kidney disease (ARPCKD). However a broader search for causative etiologies is often necessary, especially when the finding is isolated. This case series describes two prenatally identified cases of Bardet-Biedl syndrome (BBS), a rare autosomal recessive ciliopathy disorder, with the predominant finding of large, echogenic kidneys on prenatal imaging. This disorder is characterised by renal dystrophy and malformations, polydactyly, intellectual disability, central obesity, and hypogonadism. Case #1 presented with bilaterally enlarged and echogenic kidneys, as well as macrosomia, hepatomegaly, polydactyly affecting bilateral hands, ascites, and polyhydramnios. Genetic testing with chromosomal microarray returned normal. The fetus was delivered at 34w0d by Caesarean section and was discharged home from the NICU after a 21 day stay. Genetic sequencing confirmed Bardet-Biedl syndrome with two mutated copies of the BBS10 gene. Case #2 presented with bilaterally enlarged and echogenic kidneys, as well as postaxial polydactyly affecting bilateral feet. The fetus delivered at 39w0d by Caesarean section and is doing well at home. Genetic sequencing confirmed Bardet-Biedl syndrome with two mutated copies of the BBS1 gene. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.