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

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

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.

Study Overview

• Status: Completed
• Conditions: Genetic Diseases; Birth Defect; Congenital Malformation; Multiple Malformation; Newborn; Fit
• Intervention / Treatment: Diagnostic test: NGS panel

• Study Type: Observational
• Enrollment (Actual): 3423

Contacts and Locations

Study Locations

• China
  • Chongqing, China, 400014
    • Children's Hospital of Chongqing Medical University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 minute to 4 weeks (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Neonates in one of the study hospitals

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Mortality	Incidence of death	At corrected age of 18 months
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
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

Collaborators and Investigators

• Sponsor: Children's Hospital of Chongqing Medical University
• Collaborators: The First Hospital of Jilin University; Xuzhou Maternity and Child Health Care Hospital; Maternal and Child Health Hospital of Hubei Province; Northwest Women's and Children's Hospital, Xi'an, Shaanxi
• Investigators: Study Chair: Lin Zou, Ph.D, Children's Hospital of Chongqing Medical University

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2019
• Primary Completion (Actual): December 31, 2021
• Study Completion (Actual): December 31, 2021

Study Registration Dates

• First Submitted: June 7, 2019
• First Submitted That Met QC Criteria: June 11, 2019
• First Posted (Actual): June 12, 2019

Study Record Updates

• Last Update Posted (Actual): April 12, 2022
• Last Update Submitted That Met QC Criteria: April 11, 2022
• Last Verified: April 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Congenital Abnormalities; Genetic Diseases, Inborn
• Other Study ID Numbers: CHCMU-CCMM-01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No