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.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
PREVENTION
Masking
NONE
Enrollment
459
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.
The First Affiliated Hospital of Anhui Medical University
Hefei, Anhui, China
Navy General Hospital
Beijing, Beijing Municipality, China
Peking University Third Hospital
Beijing, Beijing Municipality, China
Southwest Hospital
Chongqing, Chongqing Municipality, China
Fuzhou General Hospital
Fuzhou, Fujian, China
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.
Time frame: through study completion, an average of 2 year
Success rate in pretest of preimplantation genetic diagnosis
Using couples blood to do pretest of preimplantation genetic diagnosis in Peripheral blood mononuclear lymphocyte.
Time frame: through study completion, an average of 2 year
Technical failure rate of preimplantation genetic diagnosis.
The rate of amniotic fluid puncture test or umbilical cord blood gene detection confirm the offspring containing pathogenic gene mutation.
Time frame: Amniotic fluid puncture test (pregnancy 16 to 19 weeks ) and Birth day
Oocyte retrieval rate
The proportion of good eggs obtained after ovulation induction
Time frame: through study completion, an average of 2 years
Good quality embryo rate
The well-developed blastocyst ratio obtained after intracytoplasmic sperm injection
Time frame: through study completion, an average of 2 years
Pregnancy rate
Successful pregnancy rate of transplanted embryo
Time frame: Four weeks after embryo transplantation
Take home baby rate
Healthy newborn birth rate in preimplantation genetic diagnosis group
Time frame: 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.
Time frame: 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.
Time frame: From enroll to postpartum 6 months
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The First Hospital of Lanzhou University
Lanzhou, Gansu, China
Sun Yat-sen Memorial Hospital of Sun Yat-sen University
Guangzhou, Guangdong, China
The First Affiliated Hospital of Sun Yat-sen University
Guangzhou, Guangdong, China
Hebei Province Center for Reproductive Medicine
Shijiazhuang, Hebei, China
The Second Hospital of Hebei Medical University
Shijiazhuang, Hebei, China
...and 21 more locations