Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring

Abstract

To demonstrate the feasibility of establishing a successful pregnancy for a carrier of a balanced Y;autosome translocation. Four locus-specific fluorescence in situ hybridization (FISH) probes, informative for the translocation, were identified and tested on peripheral lymphocyte metaphase chromosomes and interphase preparations from the translocation carrier and his partner. National health service genetics center, cytogenetics laboratory, and assisted conception unit. An infertile man, presenting with a balanced Y;13 translocation, and his reproductive partner. After ovarian stimulation, 15 eggs were collected, nine were injected, and three were suitable for blastomere biopsy on day 3; a single blastomere was taken from each embryo and tested with four locus-specific FISH probes. Birth of a healthy child. One embryo showed a triploid signal pattern and one had fragmented nuclei; neither was suitable for transfer. One embryo showed a balanced male signal pattern and was transferred. A singleton pregnancy was established, resulting in the birth of a healthy male child. This first report of successful preimplantation genetic diagnosis treatment for infertile males with y:autosome translocations demonstrates that this treatment option can result in successful pregnancies and healthy offspring.