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

Completed

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

• Registration Number: NCT03984266
• Lead Sponsor: Children's Hospital of Chongqing Medical University

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2019-06-07
• Study First Submitted QC: 2019-06-11
• Study First Posted: 2019-06-12
• Study Start: 2019-10-01
• Primary Completion: 2021-12-31
• Study Completion: 2021-12-31
• Status Verified: 2022-04
• Last Update Submitted: 2022-04-11
• Last Update Posted: 2022-04-12

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 3423

Inclusion Criteria

1. Neonates in one of the study hospitals
2. Abnormal laboratory testing or abnormal response to standard therapy suggestive of a genetic disease

Exclusion Criteria

1. Any infant whose genome has been shown to have large chromosomal aberration (Trisomy 13, 18, 21 or other)
2. Any infant in which clinical considerations preclude drawing 1.0 ml of peripheral blood
3. Parents refuse consent

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Mortality	At corrected age of 18 months	Incidence of death
Disability Rate	At corrected age of 18 months	Incidence of disability. Disability defined as a physical or mental handicap, especially one that prevents a person from living a full, normal life or from holding a gainful job.
Allele Frequency	In 120 days after receipt of all the patients' sequencing data	Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in the population the investigators studied, expressed as a percentage.

Trial Locations

Locations (1)

Children's Hospital of Chongqing Medical University; 🇨🇳 Chongqing, China