Igenomix, 46980 Valencia, Spain.
Igenomix Foundation-INCLIVA, 46010 Valencia, Spain.
Genes (Basel). 2020 Jun 24;11(6):692. doi: 10.3390/genes11060692.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and presents with genetic and clinical heterogeneity. ADPKD can also manifest extra-renally, and seminal cysts have been associated with male infertility in some cases. ADPKD-linked male infertility, along with female age, have been proposed as factors that may influence the clinical outcomes of preimplantation genetic testing (PGT) for monogenic disorders (PGT-M). Large PGT for aneuploidy assessment (PGT-A) studies link embryo aneuploidy to increasing female age; other studies suggest that embryo aneuploidy is also linked to severe male-factor infertility. We aimed to assess the number of aneuploid embryos and the number of cycles with transferable embryos in ADPKD patients after combined-PGT. The combined-PGT protocol, involving PGT-M by PCR and PGT-A by next-generation sequencing, was performed in single trophectoderm biopsies from 289 embryos in 83 PGT cycles. Transferable embryos were obtained in 69.9% of cycles. The number of aneuploid embryos and cycles with transferable embryos did not differ when the male or female had the ADPKD mutation. However, a significantly higher proportion of aneuploid embryos was found in the advanced maternal age (AMA) group, but not in the male factor (MF) group, when compared to non-AMA and non-MF groups, respectively. Additionally, no significant differences in the percentage of cycles with transferable embryos were found in any of the groups. Our results indicate that AMA couples among ADPKD patients have an increased risk of aneuploid embryos, but ADPKD-linked male infertility does not promote an increased aneuploidy rate.
常染色体显性多囊肾病 (ADPKD) 是最常见的遗传性肾脏疾病，具有遗传和临床异质性。ADPKD 也可以在肾脏以外表现出来，在某些情况下，精囊囊肿与男性不育有关。ADPKD 相关的男性不育症以及女性年龄被认为是可能影响单基因疾病植入前遗传学检测 (PGT) 的临床结果的因素 (PGT-M)。大型 PGT 用于非整倍体评估 (PGT-A) 的研究将胚胎非整倍体与女性年龄的增加联系起来；其他研究表明，胚胎非整倍体也与严重的男性因素不育有关。我们旨在评估 ADPKD 患者在联合 PGT 后胚胎非整倍体的数量和可转移胚胎的数量。联合 PGT 方案涉及聚合酶链反应的 PGT-M 和下一代测序的 PGT-A，在 83 个 PGT 周期中的 289 个胚胎的单个滋养外胚层活检中进行。在 69.9%的周期中获得了可转移胚胎。当男性或女性携带 ADPKD 突变时，非整倍体胚胎的数量和可转移胚胎的周期数量没有差异。然而，与非 AMA 组和非 MF 组相比，在高级别母体年龄 (AMA) 组中发现了显著更高比例的非整倍体胚胎，但在男性因素 (MF) 组中则没有。此外，在任何组中，可转移胚胎的周期百分比均无显著差异。我们的结果表明，ADPKD 患者中的 AMA 夫妇胚胎非整倍体的风险增加，但 ADPKD 相关的男性不育症不会增加非整倍体率。
