Descriptive Analysis of Preimplantation Genetic Test (PGT)in Couples With Polycystic Kidney Disease (PKD). In the ADPKD Subgroup Evaluation of Outcomes and Complications Comparing Couples in Which the Father is Affected With Couples in Which the Mother is Affected

Overview

The goal of this observational study is to evaluate the outcomes of assisted reproductive technology (ART) combined with preimplantation genetic testing for monogenic diseases (PGT-M) in couples affected by or carriers of polycystic kidney disease (PKD). The participant population includes couples in which one partner has autosomal dominant polycystic kidney disease (ADPKD) or both partners have autosomal recessive polycystic kidney disease (ARPKD), who were treated at the Arco Medically Assisted Procreation Center (part of Azienda Provinciale per i Servizi Sanitari della Provincia Autonoma di Trento) between January 1, 2018, and August 1, 2024, and who provided informed consent to participate in the study. The main questions it aims to answer were: * What are the outcomes in terms of clinical pregnancy and live birth rates in this population undergoing ART with PGT-M? * What is the incidence of complications, including ovarian hyperstimulation syndrome (OHSS), miscarriage, hypertension, and preeclampsia, in these patients? There is no external comparison group; however, the study may perform internal comparisons between subgroups (e.g., ADPKD vs ARPKD couples) to assess whether specific forms of PKD are associated with different reproductive outcomes. Participants have: 1. Undergone ART procedures including ovarian stimulation, oocyte retrieval, fertilization, embryo biopsy, and transfer of embryos free of the pathogenic mutation. 2. Received genetic counseling and preimplantation genetic testing for monogenic diseases (PGT-M). 3. Been monitored throughout the process for clinical outcomes and complications (e.g., OHSS, pregnancy loss, hypertensive disorders).

Conditions