NCT03984266

The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects

The Pre-clinical Study of Genomic Sequencing for Birth Defects in Newborns

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 3,423 (actual)
• Sponsor: Children's Hospital of Chongqing Medical University · Academic / Other
• Sex: All
• Age: 1 Minute – 28 Days
• Healthy volunteers: Not accepted

Summary

In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.

Conditions

• Birth Defect
• Newborn; Fit
• Genetic Diseases
• Multiple Malformation
• Congenital Malformation

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	NGS panel	A next-generation-sequencing panel, which contains a group of genes that specifically cause disease, for mutational analysis in newborns.

Timeline

• Start date: 2019-10-01
• Primary completion: 2021-12-31
• Completion: 2021-12-31
• First posted: 2019-06-12
• Last updated: 2022-04-12

Locations

1 site across 1 country: China