Reproduction, fertility, and development · 2025
The location of a translocation breakpoint, rather than fragment size, is associated with spermatogenic function.
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Hammond Elizabeth M, Olsen Kimberly J, Ram Shivneel, Tran Giang Vu Vi, Hall Laura S, Bradley John E, Lund Frances E, Samuels D Scott, Baumgarth Nicole
Аннотация
CONTEXT: Male carriers of balanced reciprocal translocations can experience impaired spermatogenesis and adverse pregnancy outcomes. The impact of translocation fragment size and breakpoint location on these outcomes remains unclear.
AIMS: To investigate whether the location and size of translocated fragments relate to spermatogenic function, embryo aneuploidy ratio, and pregnancy outcomes in couples with male chromosomal translocation.
METHODS: In total, 103 couples with male reciprocal translocation were included and these couples underwent 116 pre-implantation genetic testing cycles. Patients were divided into Group A (at least one translocation segment size <10 Mb) and Group B (both segment sizes ≥10 Mb) to compare the association of translocation segment size on spermatogenic function, embryo aneuploidy ratio, and pregnancy outcomes. Additionally, patients were categorized into Group I (normal/mild-moderate oligospermia) and Group II (severe oligospermia) on the basis of sperm concentration, to compare the relationship of translocation breakpoint position on semen output.
KEY RESULTS: No significant differences were found between Groups A and B in the proportion with severe oligozoospermia (26.47% vs 21.74%), euploid blastocyst rate (35.64% vs 36.18%), or cumulative pregnancy rate (42.11% vs 55.26%). However, the proportion of couples with 1q fragment was significantly higher in Group II than in Group I (16.28% vs 3.25%).
CONCLUSIONS: The size of male autosomal translocation fragments is not significantly associated with sperm concentration or pregnancy outcomes, although translocations involving the 1q fragment may relate to spermatogenic dysfunction.
IMPLICATIONS: Genetic counseling for male translocation carriers should prioritize breakpoint location, particularly on 1q, over fragment size when evaluating spermatogenic impairment risk.
AIMS: To investigate whether the location and size of translocated fragments relate to spermatogenic function, embryo aneuploidy ratio, and pregnancy outcomes in couples with male chromosomal translocation.
METHODS: In total, 103 couples with male reciprocal translocation were included and these couples underwent 116 pre-implantation genetic testing cycles. Patients were divided into Group A (at least one translocation segment size <10 Mb) and Group B (both segment sizes ≥10 Mb) to compare the association of translocation segment size on spermatogenic function, embryo aneuploidy ratio, and pregnancy outcomes. Additionally, patients were categorized into Group I (normal/mild-moderate oligospermia) and Group II (severe oligospermia) on the basis of sperm concentration, to compare the relationship of translocation breakpoint position on semen output.
KEY RESULTS: No significant differences were found between Groups A and B in the proportion with severe oligozoospermia (26.47% vs 21.74%), euploid blastocyst rate (35.64% vs 36.18%), or cumulative pregnancy rate (42.11% vs 55.26%). However, the proportion of couples with 1q fragment was significantly higher in Group II than in Group I (16.28% vs 3.25%).
CONCLUSIONS: The size of male autosomal translocation fragments is not significantly associated with sperm concentration or pregnancy outcomes, although translocations involving the 1q fragment may relate to spermatogenic dysfunction.
IMPLICATIONS: Genetic counseling for male translocation carriers should prioritize breakpoint location, particularly on 1q, over fragment size when evaluating spermatogenic impairment risk.