Preimplantation genetic diagnosis for Zellweger syndrome.

Objective: To report on the first live birth of a normal child after performance of preimplantation genetic diagnosis (PGD) for Zellweger syndrome (ZS).

Design: Case report.

Setting: Tertiary-care hospital.

Patient(s): A family with four children diagnosed with ZS, who were all born at term and who expired around 4 months of age.

Intervention(s): In vitro fertilization and preimplantation genetic diagnosis.

Main Outcome Measure(s): Preimplantation genetic diagnosis of ZS in embryos, and live birth from the transferred normal embryos.

Result(s): After PGD, two genotypically normal embryos were transferred back to the mother. Pregnancy ensued, and a healthy baby girl was delivered in week 40 of pregnancy. The baby was confirmed as genotypically wild-type, and free of any sign of ZS.

Conclusion(s): To the best of our knowledge, this is the first successful PGD for ZS caused by mutation in PEX26 gene, with the subsequent delivery of a homozygous normal baby.