Descriptive Analysis of Couples With Polycystic Kidney Disease (PKD) Accessing the Arco Hospital Assisted Reproductive Technology Center for Preimplantation Testing and Comparing Outcomes and Complications in Autosomal Dominant Polycystic Kidney Disease (ADPKD) Couples in Which the Male is a Carrier of the Disease Versus Couples in Which the Female is a Carrier
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 44
- 试验地点
- 1
- 主要终点
- Live birth or ongoing pregnancy at term during the observation period
研究概览
简要总结
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:
- Undergone ART procedures including ovarian stimulation, oocyte retrieval, fertilization, embryo biopsy, and transfer of embryos free of the pathogenic mutation.
- Received genetic counseling and preimplantation genetic testing for monogenic diseases (PGT-M).
- Been monitored throughout the process for clinical outcomes and complications (e.g., OHSS, pregnancy loss, hypertensive disorders).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •> 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.
排除标准
- •Couples in which one or both members have not given their consent to participate in the study and to the processing of personal data
研究组 & 干预措施
Subjects with autosomal dominant polycystic kidney disease
干预措施: Assisted reproductive technology and preimplantation diagnosis for monogenic diseases (Procedure)
Subjects with autosomal recessive polycystic kidney disease
干预措施: Assisted reproductive technology and preimplantation diagnosis for monogenic diseases (Procedure)
结局指标
主要结局
Live birth or ongoing pregnancy at term during the observation period
时间窗: From January 2018 to July 2024
次要结局
- 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)