Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification.

OBJECTIVE: To evaluate the use of multiple displacement amplification (MDA) for whole genome amplification in the preimplantation genetic diagnosis (PGD) of X-linked adrenoleukodystrophy.
DESIGN: MDA was used to amplify the whole genome directly from a single blastomere. MDA products were used for polymerase chain reaction (PCR) analysis of two polymorphic markers flanking the ABCD1 gene and a new X/Y marker, X22, to sex embryos in an X-linked adrenoleukodystrophy PGD program.
SETTING: Fertility and gynecology private center in Alicante, Spain. PATIENT(S): A couple in which the wife is a carrier of the ABCD1 gene mutation (676A-->C) that was previously identified in her family. INTERVENTION(S): MDA of single blastomere and PCR tests for PGD. MAIN OUTCOME MEASURE(S): The ability to analyze single blastomeres for X-linked adrenoleukodystrophy using MDA. RESULT(S): The development of an MDA-PGD protocol for X-linked adrenoleukodystrophy allowed for the diagnosis of five embryos. These were biopsied on day 3 of culture and analyzed. One embryo was an affected male and one embryo was a female carrier. Three healthy female embryos were transferred 48 hours after biopsy. Unfortunately, no pregnancy was achieved. CONCLUSION(S): The MDA technique is useful for overcoming the problem of insufficient genomic DNA in PGD and allows the simultaneous amplification of different targets to perform a diagnosis of any known gene defect and a sexing test by standard methods and conditions.