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| Name | Class |
|---|---|
| The First Affiliated Hospital of Anhui Medical University | OTHER |
| The First Affiliated Hospital with Nanjing Medical University | OTHER |
| Shandong Provincial Hospital | OTHER_GOV |
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Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease in humans. ADPKD may affect all the generations of the ADPKD family and the probability of ADPKD is 50% in the second generation for each gender. It has been confirmed that PKD1 and PKD2 are two pathogenic genes of ADPKD. Nowadays, the investigators have established an effective gene detection technology platform for PKD1/2 gene with long fragment PCR and next generation sequencing. First, the investigators performed genetic testing in patients with clinically diagnosed ADPKD and strong fertility desire, but afraid of hereditary risk. Using Preimplantation genetic diagnosis, including multiple annealing and looping-based amplification cycles amplification technique, the investigators successfully screened out healthy embryos by In Vitro Fertilization. Then the investigators transplanted embryos returned to the parent. When the baby is born, using umbilical cord blood gene detection, the investigators confirmed that the neonates do not inherit genetic defects form parents. The investigators have succeeded in one couple. The investigators design a multicenter clinical trial to confirm those procedures efficacy and safety.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Preimplantation genetic diagnosis group | Experimental | ADPKD patients will complete the whole process of preimplantation genetic diagnosis with healthy baby without pathogenic gene inheritance. |
|
| Natural pregnancy group | No Intervention | ADPKD patients, pathogenic mutations in PKD1, have natural pregnancy without preimplantation genetic diagnosis.The investigators will perform genetic tests on the blood or umbilical cord blood of infants born between January 2014 and June 2020. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Preimplantation Genetic Diagnosis | Procedure | Using Preimplantation genetic diagnosis, including multiple annealing and looping-based amplification cycles amplification technique, the investigators have had screened out healthy embryos by In Vitro Fertilization. Then the investigators transplanted embryos returned to the parent. Finally, participants will have healthy baby without pathogenic gene inheritance. |
| Measure | Description | Time Frame |
|---|---|---|
| Healthy baby Rate without pathogenic gene inheritance | The investigators will do umbilical cord blood gene detection for the baby to confirm with or without pathogenic gene inheritance. The investigators will compare two groups of healthy newborns rate. | through study completion, an average of 2 year |
| Measure | Description | Time Frame |
|---|---|---|
| Success rate in pretest of preimplantation genetic diagnosis | Using couples blood to do pretest of preimplantation genetic diagnosis in Peripheral blood mononuclear lymphocyte. | through study completion, an average of 2 year |
| Technical failure rate of preimplantation genetic diagnosis. |
| Measure | Description | Time Frame |
|---|---|---|
| The incidence of ovarian hyperstimulation syndrome | the incidence of ovarian hyperstimulation syndrome | through study completion, an average of 2 years |
| The incidence of organ injuries | the incidence of organ injuries |
Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| changlin Mei, Master | Institute of Nephrology, Changzheng Hospital | Principal Investigator |
| wen Li, doctor | Center of Reproductive Medicine, Changzheng Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The First Affiliated Hospital of Anhui Medical University | Hefei | Anhui | 230000 | China | ||
| Navy General Hospital |
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| Tang-Du Hospital |
| OTHER |
| Shengjing Hospital | OTHER |
| Second Xiangya Hospital of Central South University | OTHER |
| Reproductive & Genetic Hospital of CITIC-Xiangya | OTHER |
| Peking University Third Hospital | OTHER |
| Navy General Hospital, Beijing | OTHER |
| The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School | OTHER |
| The First Affiliated Hospital of Soochow University | OTHER |
| Sir Run Run Shaw Hospital | OTHER |
| Fuzhou General Hospital | OTHER |
| The First Affiliated Hospital of Zhengzhou University | OTHER |
| Wuhan TongJi Hospital | OTHER |
| Union Hospital, Tongji Medical College, Huazhong University of Science and Technology | OTHER |
| Renmin Hospital of Wuhan University | OTHER |
| Xiangya Hospital of Central South University | OTHER |
| First Affiliated Hospital, Sun Yat-Sen University | OTHER |
| Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University | OTHER |
| Southwest Hospital, China | OTHER |
| LanZhou University | OTHER |
| Shaanxi Provincial People's Hospital | OTHER |
| West China Hospital | OTHER |
| West China Second University Hospital | OTHER |
| Sichuan Provincial People's Hospital | OTHER |
| Hebei Medical University Third Hospital | OTHER |
| Hebei Province Center for Reproductive Medicine | UNKNOWN |
| The Second Hospital of Hebei Medical University | OTHER |
| Shandong University | OTHER |
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The rate of amniotic fluid puncture test or umbilical cord blood gene detection confirm the offspring containing pathogenic gene mutation. |
| Amniotic fluid puncture test (pregnancy 16 to 19 weeks ) and Birth day |
| Oocyte retrieval rate | The proportion of good eggs obtained after ovulation induction | through study completion, an average of 2 years |
| Good quality embryo rate | The well-developed blastocyst ratio obtained after intracytoplasmic sperm injection | through study completion, an average of 2 years |
| Pregnancy rate | Successful pregnancy rate of transplanted embryo | Four weeks after embryo transplantation |
| Take home baby rate | Healthy newborn birth rate in preimplantation genetic diagnosis group | Two week after neonatus birth day |
| The total kidney volume change rate | The investigators do twice kidney MRI scan for calculating total kidney volume change rate between enroll and postpartum 6 months. | From enroll to postpartum 6 months |
| The estimated glomerular filtration rate change | The investigators do twice serum creatinine test between enroll and postpartum 6 months, then using CKD-EPI formula to calculate eGFR. | From enroll to postpartum 6 months |
| through study completion, an average of 2 years |
| The incidence of infection | the incidence of infection | through study completion, an average of 2 years |
| The incidence of abortion rate | the incidence of abortion rate | through study completion, an average of 2 years |
| Beijing |
| Beijing Municipality |
| 100000 |
| China |
| Peking University Third Hospital | Beijing | Beijing Municipality | 100000 | China |
| Southwest Hospital | Chongqing | Chongqing Municipality | 400000 | China |
| Fuzhou General Hospital | Fuzhou | Fujian | 350000 | China |
| The First Hospital of Lanzhou University | Lanzhou | Gansu | 730000 | China |
| Sun Yat-sen Memorial Hospital of Sun Yat-sen University | Guangzhou | Guangdong | 510000 | China |
| The First Affiliated Hospital of Sun Yat-sen University | Guangzhou | Guangdong | 510000 | China |
| Hebei Province Center for Reproductive Medicine | Shijiazhuang | Hebei | 050000 | China |
| The Second Hospital of Hebei Medical University | Shijiazhuang | Hebei | 050000 | China |
| The Third Hospital of Hebei Medical University | Shijiazhuang | Hebei | 050000 | China |
| The First Affiliated Hospital of Zhengzhou University | Zhengzhou | Henan | 450000 | China |
| Renmin Hospital of Wuhan University | Wuhan | Hubei | 430000 | China |
| Wuhan Tongji Hospital | Wuhan | Hubei | 430000 | China |
| Wuhan Union Hospital | Wuhan | Hubei | 430000 | China |
| Reproductive & Genetic Hospital of CITIC-Xiangya | Changsha | Hunan | 410000 | China |
| Second Xiangya Hospital of Central South University | Changsha | Hunan | 410000 | China |
| Xiangya Hospital of Central South University | Changsha | Hunan | 410000 | China |
| The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School | Nanjing | Jiangsu | 210000 | China |
| The First Affiliated Hospital with Nanjing Medical University | Nanjing | Jiangsu | 210000 | China |
| The First Affiliated Hospital of Soochow University | Suzhou | Jiangsu | 215000 | China |
| Shengjing Hospital | Shenyang | Liaoning | 110000 | China |
| Hospital for Reproductive Medicine Affiliated to Shandong University | Jinan | Shandong | 250000 | China |
| Shandong Provincial Hospital | Jinan | Shandong | 250000 | China |
| Shanghai Changzheng Hospital | Shanghai | Shanghai Municipality | 200000 | China |
| Shanxi Provincial People's Hospital | Taiyuan | Shanxi | 030000 | China |
| Tang-Du Hospital | Xi’an | Shanxi | 710000 | China |
| Shanxi Provincial People's Hospital | Chengdu | Sichuan | 610000 | China |
| West China Hospital of Sichuan University | Chengdu | Sichuan | 610000 | China |
| West China Second University Hospital | Chengdu | Sichuan | 610000 | China |
| Sir Run Run Shaw Hospital of Zhejiang University | Hangzhou | Zhejiang | 310000 | China |
| ID | Term |
|---|---|
| D016891 | Polycystic Kidney, Autosomal Dominant |
| ID | Term |
|---|---|
| D007690 | Polycystic Kidney Diseases |
| 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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