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Prenatal Diagnosis and Report of a Rare Fetus with Emanuel Syndrome

Prenatal Diagnosis and Report of a Rare Fetus with Emanuel Syndrome

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2600121754
Enrollment
Unknown
Registered
2026-04-02
Start date
2026-04-02
Completion date
Unknown
Last updated
2026-04-14

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

Conditions

Emanuel Syndrome,Intellectual disability, developmental delay, multiple congenital anomalies

Interventions

Fetus diagnosed with Emanuel syndrome:None

Sponsors

The Fifth Affiliated Hospital, Sun Yat-sen University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1.The fetus was diagnosed with Emanuel syndrome on December 5, 2022, via amniocentesis combined with chromosomal microarray analysis and karyotyping.

Exclusion criteria

Exclusion criteria: 1.Those with incomplete medical records.

Design outcomes

Primary

MeasureTime frame
Genetic diagnosis, the association between severe diaphragmatic hernia and duplication of the end of the long arm of chromosome 11 (11q23.3q25).;—

Secondary

MeasureTime frame
Accuracy, advantages and limitations, fertility guidance again.;—

Countries

China

Contacts

Public ContactLiu Ruihong

The Fifth Affiliated Hospital, Sun Yat-sen University

liurh25@mail.sysu.edu.cn+86 756 2528829

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Apr 17, 2026