Preimplantation Genetic Testing of Robertsonian Translocation by SNP Array-based Preimplantation Genetic Haplotyping

Objectives: The present study attempted to confirm a method that distinguishes a balanced Robertsonian translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS).

Methods: Comprehensive chromosome screening was performed in 107 embryos from 11 couples carrying Robertsonian translocations. Among them, embryos from 2 families had been transferred before the diagnosis of translocation, which resulted in successful pregnancies; embryos from the remaining families were transferred after the identification of translocations. The single nucleotide polymorphism (SNP) genotypes were acquired on a genome-wide basis, and breakpoint regions and flanking were assessed by establishing haplotypes. The predicted karyotypes from the transferred embryos were confirmed by prenatal diagnosis.

Results: Among the 9 families finally undergoing translocation diagnosis, the amniotic cell karyotypes of 3 families were concordant with the results predicted by preimplantation genetic haplotyping, revealing a good consistency rate. After CCS, the euploid embryos from 2 other families could not be further detected because of the absence of abnormal embryos as probands.

Conclusions: Molecular karyotypes and haplotypes could be established with SNP microarray simultaneously in each embryo. SNP array-based PGT can simultaneously complete the CCS and identify Robertsonian translocation carriers, thus making it possible to prevent Robertsonian translocations from being passed to subsequent generations.