FindTrial
Sign In

Application of preconception and prenatal sequential screening in the prevention of rare diseases among the universal population

Application of preconception and prenatal sequential screening in the prevention of rare diseases among the universal population

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2300078337
Enrollment
Unknown
Registered
2023-12-05
Start date
2024-01-01
Completion date
Unknown
Last updated
2023-12-10

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

Conditions

rare diseases

Interventions

Case series:NA

Sponsors

Nanjing Drum Tower Hospital
Lead Sponsor

Eligibility

Sex/Gender
All
Age
18 Years to 50 Years

Inclusion criteria

Inclusion criteria: Have the will to learn the gene carrying status, and voluntarily accept prenatal screening and diagnosis after successful pregnancy, including couples with a family history of recessive genetic diseases or a poor birth history or close blood relationship.

Exclusion criteria

Exclusion criteria: Both spouses or one of them is clearly diagnosed or suspected to be a patient with a hereditary sexually transmitted disease; Both spouses or one of them is a carrier of chromosomal balance translocation; Population planning to conceive through sperm or egg donation

Design outcomes

Primary

MeasureTime frame
Birth obstruction rate in children with rare diseases;—

Secondary

MeasureTime frame
133 genes for carrier screening;88 genetic syndromes;27 genes associated with dominant genetic disease;—

Countries

China

Contacts

Public ContactDuan Honglei

Nanjing Drum Tower Hospital

hongleiduan@126.com+86 189 5200 8850

Outcome results

None listed

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