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

Genetic Diseases Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03984266
• Other study ID #: CHCMU-CCMM-01
• Status: Completed
• Start date: October 1, 2019
• Est. completion date: December 31, 2021

Study information

• Verified date: April 2022
• Source: Children's Hospital of Chongqing Medical University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 3423
• Est. completion date: December 31, 2021
• Est. primary completion date: December 31, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 28 Days

Eligibility

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

Related Conditions & MeSH terms

• Birth Defect
• Congenital Abnormalities
• Congenital Malformation
• Genetic Diseases
• Genetic Diseases, Inborn
• Multiple Malformation
• Newborn; Fit

Intervention

Diagnostic Test:
• NGS panel
A next-generation-sequencing panel, which contains a group of genes that specifically cause disease, for mutational analysis in newborns.

Locations

Country	Name	City	State
China	Children's Hospital of Chongqing Medical University	Chongqing

Sponsors (5)

Lead Sponsor	Collaborator
Children's Hospital of Chongqing Medical University	Maternal and Child Health Hospital of Hubei Province, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, The First Hospital of Jilin University, Xuzhou Maternity and Child Health Care Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Mortality	Incidence of death	At corrected age of 18 months
Primary	Disability Rate	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.	At corrected age of 18 months
Primary	Allele Frequency	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.	In 120 days after receipt of all the patients' sequencing data