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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:
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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Subjects with autosomal dominant polycystic kidney disease |
| ||
| Subjects with autosomal recessive polycystic kidney disease |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Assisted reproductive technology and preimplantation diagnosis for monogenic diseases | Procedure | Assisted reproductive technology and preimplantation diagnosis for monogenic diseases |
| Measure | Description | Time Frame |
|---|---|---|
| Live birth or ongoing pregnancy at term during the observation period | From January 2018 to July 2024 |
| Measure | Description | 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 | |
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Inclusion Criteria:
Exclusion Criteria:
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Couples carrying polycystic kidney disease referred to the ART center at Arco Hospital, seeking to undergo preimplantation genetic testing and achieve a pregnancy.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Ospedale di Arco | Arco | Trento | 38062 | Italy |
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| 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 |
| ID | Term |
|---|---|
| D007690 | Polycystic Kidney Diseases |
| ID | Term |
|---|---|
| D052177 | Kidney Diseases, Cystic |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000072661 | Ciliopathies |
| D030342 | Genetic Diseases, Inborn |
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| ID | Term |
|---|---|
| D027724 | Reproductive Techniques, Assisted |
| ID | Term |
|---|---|
| D012099 | Reproductive Techniques |
| D013812 | Therapeutics |
| D008919 | Investigative Techniques |
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