Monogenic disease
Conditions
Interventions
Group for Observing Monogenic Diseases:None
Sponsors
Qinzhou Maternal and Child Health Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. The cleavage-stage (day 3 after fertilization) embryos obtained and frozen by the patient through assisted reproductive technology in our unit. 2. The patient and his/her family members voluntarily signed a written consent form to abandon the continued freezing preservation of this embryo and signed an informed consent form, allowing it to be used in this research. 3. The embryo morphology rating is at least the biopsy-eligible level (usually level II or above, containing >= 6 cells, with a fragmentation rate < 20%).
Exclusion criteria
Exclusion criteria: 1. Embryos that cannot obtain complete cleavage cells (such as embryos that have degenerated, are multinucleated, or have a fragmentation rate of over 50%). 2. Embryos with known severe chromosomal abnormalities (such as aneuploidy) (if there were screening results in the previous stage). 3. Patients whose clinical data are incomplete or who refuse to sign the informed consent.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Gene mutation; | — |
Secondary
| Measure | Time frame |
|---|---|
| Chromosomal copy number variation; | — |
Countries
China
Contacts
Public ContactLei Sun
Qinzhou Maternal and Child Health Hospital
Outcome results
None listed