Early genetic screening for critical illnesses in newborns

Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness

This study is testing a new genetic screening program for newborns in China to see if it can help identify serious hereditary diseases early and improve their chances of survival.

Quick facts

• Study type: Observational
• Enrollment: 4000 (estimated)
• Ages: N/A to 100 Days
• Sex: All
• Sponsor: Children's Hospital of Fudan University (Academic / other)
• Locations: 1 site (Shanghai, Shanghai Municipality)
• Trial ID: NCT04905537 on ClinicalTrials.gov

What this trial studies

This study aims to establish a comprehensive program for early genetic screening of neonatal critical illnesses in China, focusing on hereditary diseases that contribute to neonatal mortality. Researchers will analyze genetic data from over 10,000 cases to identify the spectrum of genetic diseases affecting critically ill newborns. Utilizing advanced second-generation sequencing technology, a targeted gene panel of 300 genes will be developed for screening. The study will also implement an intelligent data analysis process that integrates clinical phenotypes with genetic information, collaborating with multiple hospitals for clinical validation of the findings.

Who should consider this trial

Good fit: Ideal candidates for this study include newborns under 100 days old who have experienced perinatal death after 20 weeks of gestation and have available biological samples for genetic screening.

Not a fit: Patients who are older than 100 days, have perinatal deaths before 20 weeks of gestation, or lack access to biological samples will not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could significantly reduce neonatal mortality and disability by enabling early diagnosis and targeted interventions for genetic conditions.

How similar studies have performed: Other studies have shown success with genetic screening approaches in neonatal care, indicating a promising avenue for improving outcomes in this population.

Eligibility criteria

Inclusion Criteria:

* Postnatal age less than 100 days;
* Perinatal death after 20 weeks of gestation (more than 500 g)
* Can be retained biological samples for genetic screening;
* Biological parent or guardian's informed consent.

Exclusion Criteria:

* Reluctance of parents to use genetic sequencing data for subsequent research;
* Parents under 18 years of age or incapacitated for decision-making;
* subjects older than 100 days;
* Perinatal death less than 20 weeks of gestation or weight less than 500 g;
* Inherited metabolic diseases with chromosomal abnormalities;
* Multiple pregnancies;
* Lack of access to biological samples from which DNA can be extracted;
* Failure to sign informed consent.

Where this trial is running

Shanghai, Shanghai Municipality

• Children's Hospital of Fudan University — Shanghai, Shanghai Municipality, China (Recruiting)

Study contacts

• Study coordinator: Wenhao Zhou

Conditions Genetic Screening; Hereditary Disease; Newborn; Stillbirth