Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification.

Objective: To evaluate the use of multiple displacement amplification (MDA) in preimplantation genetic diagnosis (PGD) for female carriers with Duchenne muscular dystrophy (DMD).

Design: MDA was used to amplify a whole genome of single cells. Following the setup on single cells, the test was applied in two clinical cases of PGD. One mutant exon, six short tandem repeats (STR) markers within the dystrophin gene, and amelogenin were incorporated into singleplex polymerase chain reaction (PCR) assays on MDA products of single blastomeres.

Setting: Center for reproductive medicine in First Affiliated Hospital, Sun Yat-sen University, China.

Patient(s): Two female carriers with a duplication of exons 3-11 and a deletion of exons 47-50, respectively.

Intervention(s): The MDA of single cells and fluorescent PCR assays for PGD.

Main Outcome Measure(s): The ability to analyze single blastomeres for DMD using MDA.

Result(s): The protocol setup previously allowed for the accurate diagnosis of each embryo. Two clinical cases resulted in a healthy girl, which was the first successful clinical application of MDA in PGD for DMD.

Conclusion(s): We suggest that this protocol is reliable to increase the accuracy of the PGD for DMD.