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Open AccessFeature PaperArticle

Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer

1
Igenomix, 46980 Valencia, Spain
2
Igenomix Foundation-INCLIVA, 46010 Valencia, Spain
3
Department of Obstetrics and Gynecology, BIDMC, Harvard University, Boston, MA 02215, USA
4
Department of Pediatrics, Obstetrics & Gynecology, University of Valencia, 46010 Valencia, Spain
*
Author to whom correspondence should be addressed.
Genes 2020, 11(6), 692; https://doi.org/10.3390/genes11060692
Received: 1 June 2020 / Revised: 18 June 2020 / Accepted: 22 June 2020 / Published: 24 June 2020
(This article belongs to the Special Issue EmbryoGenetics)
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. View Full-Text
Keywords: combined preimplantation genetic testing; Preimplantation genetic testing for monogenic disorders (PGT-M); Preimplantation genetic testing for aneuploidy assessment (PGT-A); Autosomal dominant polycystic kidney disease (ADPKD); male infertility; advanced maternal age; aneuploidy combined preimplantation genetic testing; Preimplantation genetic testing for monogenic disorders (PGT-M); Preimplantation genetic testing for aneuploidy assessment (PGT-A); Autosomal dominant polycystic kidney disease (ADPKD); male infertility; advanced maternal age; aneuploidy
MDPI and ACS Style

Mir Pardo, P.; Martínez-Conejero, J.A.; Martín, J.; Simón, C.; Cervero, A. Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer. Genes 2020, 11, 692.

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