Actively Recruiting
Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
Led by Children's Hospital of Fudan University · Updated on 2025-09-05
2000
Participants Needed
1
Research Sites
534 weeks
Total Duration
On this page
Sponsors
C
Children's Hospital of Fudan University
Lead Sponsor
X
Xiamen Children's Hospital, Fujian of China
Collaborating Sponsor
AI-Summary
What this Trial Is About
The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.
CONDITIONS
Official Title
Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals
- Clinical genetic testing or a genetic consult is ordered
- Subject has one major structural anomaly or three or more minor anomalies
- Abnormal laboratory testing suggestive of a genetic disease
- Abnormal response to standard therapy for a major underlying condition
You will not qualify if you...
- Previously performed exome/genome sequencing on patient
- Any infant in which clinical considerations preclude drawing 1.0 ml of blood
- Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other)
- Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- Parents refuse consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Children Hospital of Fudan University
Shanghai, Shanghai Municipality, China
Actively Recruiting
Research Team
W
Wenhao Zhou, Doctor
CONTACT
G
Guoqiang Cheng, Doctor
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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