Introduction: Charcot-Marie-Tooth (CMT) disease is one of the most common cause of peripheral neuropathy, with an incidence estimated to be approximately to 1 per 2500 live births. CMT type X is inherited in an X-linked dominant manner and represents the 10-20% of patients with the CMT syndrome. Clinically, is characterised by peripheral motor and sensory deficit with muscle atrophy. CMTX is caused by mutations in the GJB1 gene, mapped to locus Xq13.1, that encodes a gap junction protein named Connexin 32 (CX32). A couple with a previous history of CMTX followed by termination of pregnancy was referred to our centre for preimplantation genetic diagnosis (PGD). The selection of healthy embryos was performed based on the presence of substitution CG in codon 94 of exon 2 of the GJB1 gene. Material and methods: The PGD cycle involved 9 fertilized oocytes, only 5 of them were developed in good quality embryos useful for the biopsy. The genetic analysis was achieved using a multiplex nested PCR, for the simultaneous amplification of a fragment of the exon 2 of GJB1 gene encompassing the mutation as well as of sequences located on the X amelogenin gene and its Y pseudogene for sex determination. Minisequencing method was then used to detect the mutation of interest. Result: Using the above assay two unaffected embryos were selected for transfer during the unique PGD cycle. This resulted in an unaffected ongoing singleton pregnancy at 30 weeks of gestation. Prenatal diagnosis by chorionic villus sampling confirmed the healthy genotype. Conclusion: To our Knowledge, this is the first report of a PGD procedure for CMTX. We established a protocol for PGD as an alternative to prenatal diagnosis, selecting unaffected embryos before implantation by genetic analysis of single blastomeres.