Using genomic sequencing to diagnose birth defects in newborns
Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
This study is testing if a new DNA testing method can help doctors diagnose birth defects and genetic diseases in newborns faster and more accurately than the usual method.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 2000 (estimated) |
| Ages | N/A to 28 Days |
| Sex | All |
| Sponsor | Children's Hospital of Fudan University Academic / other |
| Locations | 1 site (Shanghai, Shanghai Municipality) |
| Trial ID | NCT02551081 on ClinicalTrials.gov |
What this trial studies
This study evaluates the effectiveness of Next Generation Sequencing (NGS) technology in diagnosing birth defects and genetic diseases in neonates. By comparing NGS with traditional Sanger sequencing, the study aims to determine if NGS can shorten examination times, improve diagnosis rates, and guide personalized treatment options. The research focuses on neonates in the Neonatal Intensive Care Units (NICUs) who present with undiagnosed illnesses or specific genetic concerns. Participants will undergo genetic screening based on their clinical symptoms, with blood samples collected for DNA analysis.
Who should consider this trial
Good fit: Ideal candidates include neonates admitted to NICUs with undiagnosed illnesses or specific genetic anomalies.
Not a fit: Patients who have previously undergone exome or genome sequencing may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could lead to faster and more accurate diagnoses of genetic conditions in newborns, enabling timely and personalized treatment.
How similar studies have performed: Other studies utilizing genomic sequencing for similar purposes have shown promising results, indicating a potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: One of the following criteria required. 1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals 2. Clinical genetic testing or a genetic consult is ordered 3. Subject has one major structural anomaly or three or more minor anomalies 4. Abnormal laboratory testing suggestive of a genetic disease 5. Abnormal response to standard therapy for a major underlying condition Exclusion Criteria: 1. Previously performed exome/genome sequencing on patient 2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood 3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other) 4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician 5. Parents refuse consent
Where this trial is running
Shanghai, Shanghai Municipality
- Children Hospital of Fudan University — Shanghai, Shanghai Municipality, China (Recruiting)
Study contacts
- Study coordinator: Wenhao Zhou, Doctor
- Email: zwhchfu@126.com
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.