Assisted Reproductive Technology, Polycystic Kidney Disease, Preimplantation Genetic Testing (PGT)
Conditions
Brief summary
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).
Interventions
PROCEDUREAssisted reproductive technology and preimplantation diagnosis for monogenic diseases
Assisted reproductive technology and preimplantation diagnosis for monogenic diseases
Sponsors
Azienda Provinciale per i Servizi Sanitari, Provincia Autonoma di Trento
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* \> 18 years old * Member of a heterosexual couple in which one of the two individuals is affected by ADPKD (with the condition confirmed by genetic diagnosis), or in which both members are carriers of ARPKD (with the condition genetically confirmed), who have been taken in charge by the Arco Medically Assisted Procreation (MAP) Center between January 1, 2018, and August 1, 2024, for the purpose of preimplantation genetic testing for monogenic diseases (PGT-M). * Couples in which both partners have given their consent to participate in the study and to the processing of personal data.
Exclusion criteria
* Minors * Couples in which one or both members have not given their consent to participate in the study and to the processing of personal data
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Live birth or ongoing pregnancy at term during the observation period | From January 2018 to July 2024 |
Secondary
| Measure | Time frame |
|---|---|
| Live birth - ongoing pregnancy | From January 2018 to July 2024 |
| Number and percentage of preterm births (<37 weeks) in each cohort | From January 2018 to July 2024 |
| Incidence of pregnancy complications in the two cohorts | From January 2018 to July 2024 |
| Number of miscarriages in each cohort | From January 2018 to July 2024 |
Countries
Italy
Outcome results
None listed