Cytogenetic and genome research · 2025
Assessing the Genetic Integrity of Embryos Carrying X/Y-Autosome-Balanced Translocations through SNP-Based PGT-SR.
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Lan Yueyun, Shu Jinhui, He Sheng, Luo Jingsi, Su Jiasun, Li Wei, Zhou Chaofan, Tang Xianglian, Wei Yuan, Huang Minpan, Wang Caizhu, Zhao Xin, Li Zhan, Qiu Qingming, Zhou Hong, Huang Peng
Аннотация
INTRODUCTION: The influence of X/Y-autosomal translocations on reproductive competence is determined by both the cytogenetic positioning of translocation breakpoints and the potential disruption of critical genomic regions essential for reproductive physiology, particularly gene-dense Y-chromosomal segments or X-chromosome loci associated with ovarian folliculogenesis. This investigation examined 4 cases of cytogenetically balanced X/Y-autosomal translocations through the single-nucleotide polymorphism (SNP) and preimplantation genetic testing for structural rearrangements (SNP-based PGT-SR), enabling concurrent assessment of embryonic chromosomal integrity and precise differentiation between euploid embryos and balanced translocation carriers.
CASES PRESENTATION: Cases 1-2 exhibited Y-autosomal translocations with breakpoints localized to the azoospermia factor critical region, while cases 3-4 demonstrated X-autosomal translocations where breakpoints mapped outside ovarian functional domains (Xq13-q28). Embryo selection utilizing SNP-based PGT-SR achieved clinical transfer of euploid embryos lacking the parental translocation in cases 2 and 4. Case 3, following multidisciplinary counseling, opted for transfer of a balanced translocation carrier euploid embryo with conserved genomic architecture. Prenatal diagnostic evaluations demonstrated complete concordance with PGT-SR outcomes.
CONCLUSION: The impact of chromosomal translocation on reproduction is contingent upon whether the breakpoint location influences critical functional regions. SNP-based PGT-SR can accurately determine the genetic status of embryos exhibiting balanced X/Y-autosomal translocations by systematically evaluating the integrity of the embryo's genetic material. This approach enhances detection accuracy and mitigates the risk of transmitting the translocation to subsequent generations.
CASES PRESENTATION: Cases 1-2 exhibited Y-autosomal translocations with breakpoints localized to the azoospermia factor critical region, while cases 3-4 demonstrated X-autosomal translocations where breakpoints mapped outside ovarian functional domains (Xq13-q28). Embryo selection utilizing SNP-based PGT-SR achieved clinical transfer of euploid embryos lacking the parental translocation in cases 2 and 4. Case 3, following multidisciplinary counseling, opted for transfer of a balanced translocation carrier euploid embryo with conserved genomic architecture. Prenatal diagnostic evaluations demonstrated complete concordance with PGT-SR outcomes.
CONCLUSION: The impact of chromosomal translocation on reproduction is contingent upon whether the breakpoint location influences critical functional regions. SNP-based PGT-SR can accurately determine the genetic status of embryos exhibiting balanced X/Y-autosomal translocations by systematically evaluating the integrity of the embryo's genetic material. This approach enhances detection accuracy and mitigates the risk of transmitting the translocation to subsequent generations.