• Irena Borgulová, Martina Putzová, Inna Soldatova, and David Stejskal.
• Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, República Checa. Electronic address: i.eliasova@seznam.cz.
• Med Clin (Barc). 2018 Mar 23; 150 (6): 215219215-219.

ObjectiveTo present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease.Patients And MethodsWe performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p.Leu9Phe in the GJB1 gene.ResultsWithin the PGD cycle, we examined 4 blastomeres biopsied from cleavage-stage embryos and recommended 3 embryos for transfer. Two embryos were implanted into the uterus; however, it resulted in a singleton pregnancy with a male descendant. Three years later, the couple returned again with spontaneous gravidity. A chorionic biopsy examination of this gravidity ascertained the female sex and a pericentric inversion of chromosome 5 in 70% of the cultivated foetal cells.ConclusionUsing indirect linkage analysis, PGD may help to identify genetic X-linked defects within embryos during screening, thereby circumventing the potential problems with abortion.Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

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