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New Technology Development, Clinical Evaluation and Relief System Construction of Expanded Carrier Screening for Single Gene Disorders

New Technology Development, Clinical Evaluation and Relief System Construction of Expanded Carrier Screening for Single Gene Disorders

Status
Recruiting
Phases
Early Phase 1
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2100050636
Enrollment
Unknown
Registered
2021-09-01
Start date
2021-09-01
Completion date
Unknown
Last updated
2022-05-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Carrier of single gene disorders

Interventions

tandem screening group:None
tandem reflex screening group:None

Sponsors

Chinese PLA General Hospital
Lead Sponsor

Eligibility

Sex/Gender
All
Age
20 Years to 45 Years

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

MeasureTime frame
pathogenic mutations for single gene disease;

Countries

China

Contacts

Public ContactLu Yanping

Chinese PLA General Hospital

luyp301@163.com+86 15910813069

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026