Dominant single-gene disease
Conditions
Interventions
Gold Standard:NGS,Sanger sequence
Index test:A 
screening 
after 
obtaining 
cell 
in 
the 
peripheral 
blood 
of 
women.
Sponsors
Central South University
Eligibility
Sex/Gender
Female
Inclusion criteria
Inclusion criteria: 1. The subject is in good health, has no history of severe acute or chronic diseases and clear genetic diseases; 2. Pregnant women at 12-26 weeks of gestation; 3. Sign informed consent and participate voluntarily; 4. Accept follow-up.
Exclusion criteria
Exclusion criteria: 1. The pregnancy was conceived by a donor egg or a sperm; 2. Twin pregnancy; 3. Received allogeneic blood transfusion, organ transplantation, bone marrow transplantation, or immunotherapy within one year; 4. Pregnant with severe obesity (BMI>40); 5. Pregnant are cancer patients.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Sensitivity;Specificity;Positive predictive values;Negative predictive values;False positive rate;False negative rate; | — |
Countries
China
Contacts
Public ContactLingqian wu
Center for Medical Genetics, School of Life Sciences, Central South University
Outcome results
None listed