Research question: Does the sex of reciprocal translocation carriers affect meiotic segregation patterns and stability of non-translocated chromosomes during meiosis?
Design: A total of 790 couples who underwent preimplantation genetic testing for reciprocal translocations by using the single nucleotide polymorphism (SNP) array platform between October 2016 and December 2019 were included. Among them, 294 couples had their euploid embryos distinguished between normal euploidies and balanced translocation carriers.
Results: Female translocation carriers had a significantly lower incidence of alternate segregation pattern than male carriers (43.26% versus 47.98%, P = 0.001), but a higher incidence of 3:1 segregation pattern (6.70% versus 4.29%, P < 0.001). Stratified analysis showed only female translocation carriers with acrocentric chromosome (Acr-ch) involved had a lower incidence of alternate segregation pattern and a higher incidence of 3:1 segregation pattern compared with male carriers (41.63% versus 47.73%, P = 0.012; 9.32% versus 5.03%, P = 0.001). In 2233 embryos of 294 couples with identification of normal and balanced embryos, no significant differences were found in the paternal-origin aneuploidy rate (5.61% versus 5.82%, P = 0.861) and the maternal-origin aneuploidy rate (12.82% versus 12.08%, P = 0.673) in both male and female carriers. After excluding segmental aneuploidies, no differences were found between male and female carriers in both paternal-origin aneuploidy rate (2.14% versus 1.75%, P = 0.594) and maternal-origin aneuploidy rate (11.75% versus 11.06%, P = 0.683).
Conclusion: The sex of the translocation carriers affected meiotic segregation patterns with no effect on the stability of non-translocated chromosomes during meiosis.
Keywords: Meiosis; Preimplantation genetic testing; Reciprocal translocation; SNP array; Segregation patterns.
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