Mitochondrial DNA diseases.
Conditions
Interventions
Trial Group:Conventional PGT treatment protocol + preimplantation mtDNA variant load testing (transplanting embryos with variant load <15%)
Sponsors
Jiangsu Province Hospital (The First Affiliated Hospital with Nanjing Medical University)
Eligibility
Sex/Gender
Female
Inclusion criteria
Inclusion criteria: 1.The female carries a known pathogenic mtDNA variant with heteroplasmy; 2.The couple desires to conceive biologically related offspring and declines oocyte donation; 3.After receiving genetic counseling, understands the limitations of mtDNA PGT technology and signs the informed consent form.
Exclusion criteria
Exclusion criteria: 1.The female carries a homoplasmic mtDNA variant; 2.Individuals who do not comprehend the limitations of mtDNA PGT technology; 3.The female has health conditions unsuitable for pregnancy or possesses other contraindications for assisted reproductive technology treatment.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| PGT results in healthy live birth for mtDNA heteroplasmy carrier.; | — |
Secondary
| Measure | Time frame |
|---|---|
| Consistency between mtDNA variant load in amniotic fluid samples and PGT-detected variant load; | — |
Countries
China
Contacts
Public ContactShen Jiandong
Jiangsu Province Hospital (The First Affiliated Hospital with Nanjing Medical University)
Outcome results
None listed