Embryos of Robertsonian translocation carriers: patterns of inheritance and interchromosomal effect

Abstract

Relevance: Carriers of Robertsonian chromosome translocations are at risk of spontaneous miscarriages and the birth of children with chromosomal pathologies due to an unbalanced set of chromosomes in their gametes. Comparative genomic hybridization (a-CGH) allows complex screening for all chromosomes, which is very important, given the frequency of detection of pathologies in embryos that are not associated with structural chromosome rearrangements of the parents (the so-called interchromosomal effect).

The study aimed to determine the patterns of inheritance and the interchromosomal effect in embryos of the Robertsonian translocation carriers.

Materials and methods: 20 married couples were examined. In 20 cycles, 82 blastocysts were biopsied, 54 blastocysts were examined.

Results: Based on the α-CGH analysis, 59% of the blastocysts showed an abnormal result, of which only 31% carried an unbalanced rearrangement associated with a parental translocation. As a result of preimplantation testing, out of 20 couples studied, two patients were withdrawn from the program due to the lack of euploid embryos. Clinical pregnancy was registered in 11 patients (79%); 13 children were born. The rate of implantation and live birth in these cycles was 81%.

Conclusion: Couples with translocations are offered an ART program with PGT-A using the a-CGH method to preserve the woman's health and reduce the time to pregnancy with a healthy child.