Hereditary disease
Conditions
Interventions
case series:Nil
Sponsors
Chinese PLA General Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Too much or too little amniotic fluid; 2. Abnormal fetal development or possible malformation; 3. Exposure to substances that may cause congenital defects of the fetus in early pregnancy; 4. Having delivered a child with severe congenital defects; 5. Children with a certain genetic disease or one of the couple suffers from a serious genetic disease; 6. Over the age of 35; 7. Other medically deemed necessary for prenatal diagnosis.
Exclusion criteria
Exclusion criteria: 1. Patients and their family members who are not willing to take the examination; 2. Patients with contraindication of interventional prenatal diagnosis (such as threatened abortion, fever, bleeding tendency, active stage of chronic pathogen infection); 3. The test cycle does not meet the clinical needs; 4. Those who cannot meet the requirements of project verification or follow-up; 5. Insufficient sample size.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Karyotype;Copy Number Variation;Mutation site; | — |
Countries
China
Contacts
Public ContactZhou Honghui
Outcome results
None listed