Objective: To perform preimplantation genetic diagnosis (PGD) for a SURF1 gene mutation of the Leigh syndrome to transfer unaffected or carrier embryo/embryos.
Design: Case report.
Setting: Clinical IVF laboratory.
Patient(s): A couple carrying an nt769 G/A mutation that is associated with Leigh syndrome.
Intervention(s): Oocytes were fertilized by means of intracytoplasmic sperm injection. The resulting embryos were biopsied 3 days after fertilization. One blastomere was taken and whole-genome amplification was performed. Amplification of the mutation site was achieved by polymerase chain reaction (PCR) and restriction digestion was completed. Gel Imager was used to measure the digests of normal and mutant load.
Main outcome measure(s): Embryo testing by means of PGD-PCR and pregnancy. Successful preimplantation genetic diagnosis for a SURF1 gene mutation and transfer of healthy or carrier embryos.
Result(s): Successful singleton pregnancy resulting in the delivery of healthy baby girl.
Conclusion(s): We report the first case of successful PGD for Leigh syndrome resulting in delivery of a healthy newborn.