Introduction and Aims:Polycystic kidney disease (PKD) comprises a group of monogenic disorders that result in renal cyst development. In this study, the strategies and clinical outcome of a large cohort of preimplantation genetic testing (PGT) cycles for PKD performed at the Centre for Medical Genetics of the Universitair Ziekenhuis Brussel between 2005 and 2016 are reported. As males affected with autosomal dominant polycystic kidney disease (ADPKD) may present with reproductive system abnormalities and infertility, the clinical outcome was compared between couples with the female partner affected with ADPKD and couples with the male partner affected with ADPKD. Methods: Between 2005 and 2016, 16 single-cell clinical tests for PKD based on multiplex polymerase chain reaction of short tandem repeat markers, with or without a specific mutation, were developed and applied for 91 PGT cycles for 43 couples (33 couples for polycystic kidney disease 1 (PKD1), 2 couples for polycystic kidney disease 2 (PKD2) and 8 couples for autosomal recessive polycystic kidney disease (ARPKD)). In18 couples, the male partner was affected with ADPKD (= Group A)and12 of them had a documented infertility status (7 with oligoasthenoteratozoospermia (OAT), 3 with obstructive azoospermia and 2 with azoospermia). Group A underwent 52 cycles to oocyte retrieval (OR). For 18 other couples, the female partner was affected with ADPKD (= Group B)and4 male partners from this group had a documented history of infertility (3 with OAT, 1 with asthenozoospermia). This group underwent 31 cycles to OR. Results: Blastomere biopsy was performed on 584 cleavage stage embryos. Genetic analysis resulted in 545 embryos (93.3%) with a diagnosis of which 215 (36.8%) were genetically transferable. Transfer of 74 embryos in 53 fresh cycles resulted in a live birth delivery rate of 37.7% per embryo transfer (ET) with 18 singleton and 2 twin live births. Transfer of 34 cryopreserved embryos in 33 frozen-thawed embryo transfer (FET) cycles resulted in a live birth delivery rate of 39.4% per FET with 13 singleton live births and 1 ongoing pregnancy. Thirty cryopreserved embryos still remain available for transfer. The observed cumulative delivery rate was 57.8% per couple after five treatment cycles. The clinical pregnancy rate per ET (fresh + frozen; 45.9% in group A vs 60.0% in group B, P < 0.05) and the live birth delivery rate per ET (fresh + frozen; 27.0% in group A vs 42.9% in group B, P < 0.05) was significantly lower for couples with the male partner affected with ADPKD compared with couples with the female partner affected with ADPKD. However, a multivariate logistic regression analysis showed that only the female age, which is a well-established determinant factor for treatment outcome, was associated with live birth delivery rate (OR 0.87; 95% CI 0.77-0.99; P = 0.032). Conclusions: This study shows that PGT for PKD performedin our centre offers good reproductive outcomes from both fresh and frozen embryo transfers. Our results can be a valuable tool for counselling PKD patients about their reproductive options. Males affected with ADPKD who suffer from infertility should be advised to seek treatment on time to improve their chances of conceiving a child.
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Berckmoes, V., Verdyck, P., De Becker, P., De Vos, A., Verheyen, G., Verpoest, W., … De Rycke, M. (2018). SP019PREIMPLANTATION GENETIC TESTING FOR POLYCYSTIC KIDNEY DISEASE IS AN OPTION FOR AFFECTED FAMILIES. Nephrology Dialysis Transplantation, 33(suppl_1), i353–i353. https://doi.org/10.1093/ndt/gfy104.sp019