Plain language

Couples in which one partner has autosomal dominant polycystic kidney disease (ADPKD) sometimes use in vitro fertilization with preimplantation genetic testing for monogenic disorders (PGT-M) to avoid passing on the condition. This retrospective cohort study analyzed 490 PGT-M cycles (137 with an affected man, 51 with an affected woman, and 302 control cycles for other single-gene conditions). Cycles in which the woman had ADPKD showed no significant differences from control cycles. Cycles in which the man had ADPKD had lower rates of high-quality Day 3 embryos and clinical pregnancy per transfer, largely linked to differences in sperm motility, while the live birth rate per transfer did not differ statistically in the primary analysis. The authors note that these findings do not prove that male ADPKD independently lowers overall PGT-M live birth success.

Clinical note

Retrospective cohort study (Andrology; 2012–2024) of 490 PGT-M cycles: n = 137 male ADPKD, n = 51 female ADPKD, and n = 302 non-ADPKD monogenic controls, analyzed with generalized linear mixed models and logistic regression. Female ADPKD showed no significant differences vs controls in embryological or clinical endpoints. Male ADPKD was associated with lower Day 3 high-quality embryo rate (aOR 0.55, 95% CI 0.34–0.90, p = 0.017) and clinical pregnancy per embryo transfer (aOR 0.46, 95% CI 0.28–0.74, p = 0.002), while live birth per transfer did not differ significantly in the primary analysis (aOR 0.62, 95% CI 0.39–1.00, p = 0.052). Blastocyst formation was not significantly different after adjustment for semen parameters (aOR 0.76, p = 0.090) and interacted with progressive sperm motility (interaction OR 1.81, p = 0.003). Observational, without an asthenozoospermic non-ADPKD comparator.

Question for your next visit

If I am planning to have children, could a referral to genetic counselling or a fertility specialist help us review our options?

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Clinical note

Question for your next visit

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