Carrier of single gene disorders
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1. Pregnancy and early pregnancy (<=14 weeks) couples; 2. Both husband and wife signed the informed consent and participated voluntarily; 3. If necessary, willing to accept invasive prenatal diagnosis and follow up until the end of pregnancy.
Exclusion criteria
Exclusion criteria: 1. Pregnancy at the time of screening was aided by assisted reproductive technology (including all IVFs of the first, second and third generations); 2. One or both spouses have been diagnosed with a single gene disease; 3. Pregnant women or spouses who have received allogeneic blood transfusion, organ transplantation or immunotherapy within one year; 4. Malignant tumors.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| pathogenic mutations for single gene disease; | — |
Countries
China
Contacts
Chinese PLA General Hospital