Pregnancy outcome after preimplantation genetic diagnosis in an affected couple with X-linked adrenoleukodystrophy

Objective: To achieve a pregnancy free of X-linked adrenoleukodystrophy (X-ALD) by intracytoplasmic sperm injection (ICSI) and preimplantation genetic diagnosis (PGD). Design: Case report. Setting: Clinica FIV Recoletos, a private IVF center. Patient(s): A couple in which the man had X-ALD. Intervention(s): The ICSI protocol and PGD of the obtained embryos. Main Outcome Measure(s): Blastomeres were analyzed by fluorescence in situ hybridization using sex selection techniques. Embryos were transferred and pregnancy was diagnosed by hCG analysis and ultrasonographic examination. Result(s): Ten embryos were obtained by ICSI. A biopsy was taken from eight embryos to perform PGD and two male embryos were transferred resulting in a twin pregnancy. Conclusion(s): This is the first registered gestation in which PGD has been used to prevent X-ALD transmission. (Fertil Steril (R) 2008;90:2010.e1-e3. (C)2008 by American Society for Reproductive Medicine.)