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: Cl?nica 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.
Adrenoleukodystrophy Adult