Clinical pregnancy following preimplantation genetic testing for branchi-oto-renal syndrome

Abstract

Branchio-oto-renal syndrome (BOR) is a disorder causing abnormalities in the embryonic development of tissues in the neck, ear and kidneys. BOR affects approximately 1:40,000. BOR is inherited in an autosomal dominant pattern and is most commonly linked with mutations in the EYA1 gene (40% of sufferers) and genes SIX1 and SIX5. Here we report the use of PGD using embryo biopsy and PCR to identify the absence or presence of the c.386A>G mutation within the SIX1 gene for the embryos of an affected patient undergoing IVF treatment.