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Expanded carrier screening of monogenic diseases in couples during pregnancy: A prospective multi-center study

Expanded carrier screening of monogenic diseases in couples during pregnancy: A prospective multi-center study

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR1800016054
Enrollment
Unknown
Registered
2018-05-08
Start date
2018-05-01
Completion date
Unknown
Last updated
2018-05-14

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

Conditions

monogenic diseases

Interventions

Case series:Prenatal diagnosis

Sponsors

Peking Union Medical College Hospital
Lead Sponsor

Eligibility

Sex/Gender
All
Age
18 Years to 50 Years

Inclusion criteria

Inclusion criteria: 1. Couples without severe acute and chronic medical history and genetics disorders; 2. Couples have no unknown monogenic diseases; 3. Couples' family members have no unknown monogenic diseases; 4. 8-13 weeks with embryonic bud and heartbeat are normal; 5. Couples signed the informed consent; 6. Attend follow-up until the end of pregnancy.

Exclusion criteria

Exclusion criteria: 1. Individuals with consanguineous marriage; 2. Individuals conceived by IVF; 3. Pregnant women or spouses who have received heterologous blood transfusions, organ transplants or immunotherapy within one year.

Design outcomes

Primary

MeasureTime frame
mutation;—

Countries

China

Contacts

Public ContactJuntao LIU

Peking Union Medical College Hospital

liujt@pumch.cn+86 010-69155648

Outcome results

None listed

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