Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Lin Yang, Xu Liu, Zixiu Li...
https://pubmed.ncbi.nlm.nih.gov/31501239Actively Recruiting
Age: 0 - 100Days
All Genders
ID04905537
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
Led by Children's Hospital of Fudan University · Updated on 2025-02-20
4000
Participants Needed
1
Research Sites
4 weeks
Total Duration
On this page
Sponsors
C
Children's Hospital of Fudan University
Lead Sponsor
I
International Peace Maternity and Child Health Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating an early genetic screening program for critical illnesses in newborns and stillbirths in China. The study aims to develop precise intervention strategies to improve the diagnosis and treatment of hereditary critical illnesses, which are a significant cause of neonatal death and disability. This observational study builds on prior research analyzing genetic data from over 10,000 critically ill newborns to better understand the genetic disease spectrum relevant to the Chinese population. The study uses advanced second-generation sequencing technology to screen for mutations in a panel of 300 genes associated with neonatal critical illnesses. It integrates clinical symptoms with genetic data through intelligent analysis. Participants include infants admitted to Neonatal Intensive Care Units and stillbirths from member hospitals. The study involves multi-center clinical verification and molecular autopsy for neonatal death cases to identify genetic causes and support early intervention plans. Participants will undergo genomic sequencing, with results disclosed in sessions discussing family history, newborn screening, medical history, physical exams, and sequencing outcomes. Researchers will measure gene mutations within three months after sample receipt. The study involves collecting biological samples suitable for genetic analysis, and participation requires informed consent. The goal is to reduce neonatal death and disability by enabling early, accurate diagnosis and tailored care strategies.
CONDITIONS
Brief Title
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
Who Can Participate
Age: 0 - 100Days
All Genders
Eligibility Criteria
You may qualify if you...
- Postnatal age less than 100 days
- Perinatal death after 20 weeks of gestation (more than 500 g)
- Available biological samples for genetic screening
- Informed consent from biological parent or guardian
You will not qualify if you...
- Parents unwilling to use genetic sequencing data for further research
- Parents under 18 years old or unable to make decisions
- Subjects older than 100 days
- Perinatal death before 20 weeks of gestation or weight less than 500 g
- Inherited metabolic diseases with chromosomal abnormalities
- Multiple pregnancies
- No access to biological samples for DNA extraction
- Failure to provide informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - 3 months after receipt of the samples
Participants provide biological samples for genetic screening and undergo genomic sequencing to identify potential genetic causes of neonatal critical illness or death.
1 to 2 visits depending on sample collection and results disclosure
Long-term Monitoring
Duration - Up to approximately 2 years until study completion
Participants are observed to study genetic disease spectrum and support research on early precise intervention strategies for neonatal critical illnesses.
Follow-up visits may occur depending on clinical verification needs
Trial Site Locations
Total: 1 location
1
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, China
Actively Recruiting
Loading map...
Research Team
W
Wenhao Zhou
L
Lin Yang
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
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
Contribution of malformations and genetic disorders to mortality in a children's hospital.
David A Stevenson, John C Carey
https://pubmed.ncbi.nlm.nih.gov/15098237Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Laurel K Willig, Josh E Petrikin, Laurie D Smith...
https://pubmed.ncbi.nlm.nih.gov/25937001Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Hussein Daoud, Stephanie M Luco, Rui Li...
https://pubmed.ncbi.nlm.nih.gov/27241786Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.
Joanna S Amberger, Ada Hamosh
https://pubmed.ncbi.nlm.nih.gov/28654725Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ozge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini...
https://pubmed.ncbi.nlm.nih.gov/30609409Newborn Sequencing in Genomic Medicine and Public Health.
Jonathan S Berg, Pankaj B Agrawal, Donald B Bailey...
https://pubmed.ncbi.nlm.nih.gov/28096516Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Erica F Sanford, Michelle M Clark, Lauge Farnaes...
https://pubmed.ncbi.nlm.nih.gov/31246743