Dominant monogenic genetic diseases
Conditions
Interventions
Gold Standard:Prenatal diagnostic testing results and/or newborn physical examination.
Index test:Non-invasive prenatal screening for dominant monogenic genetic diseases.
Sponsors
West China Second University Hospital of Sichuan University
Eligibility
Sex/Gender
Female
Age
18 Years to 60 Years
Inclusion criteria
Inclusion criteria: 1)Retrospective samples: Peripheral blood of pregnant women whose fetuses affected with ultrasound anomalies and whose fetuses or children diagnosed with dominant single-gene genetic diseases before or after delivery. 2)Prospective sample: Gestational age at 12 to 28 weeks; Mother = 35 years old or father = 40 years old); Fetal structural anomalies detected on ultrasound; Fetal soft indicators anomalies detected on ultrasound; Abnormal family history, etc. And the parents sign informed consent to participate in the program.
Exclusion criteria
Exclusion criteria: 1. Pregnant adolescent; 2.Gestational age < 12+0 weeks; 3. Received allogeneic blood transfusion, organ transplantation, or cell therapy within 1 year; 4. Maternal malignancy during pregnancy; 5. Pregnant woman who diagnosed with dominant single gene genetic disease; 6. Other conditions that the physician considers having significant impact on the accuracy of the results.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Sensitivity;Specificity;Minimum detection level; | — |
Secondary
| Measure | Time frame |
|---|---|
| False positive rate;False negative rate;Positive predictive value;Negative predictive value; | — |
Countries
China
Contacts
Public ContactHongqian Liu
West China Second University Hospital of Sichuan University
Outcome results
None listed