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

NCT03984266 | Completed DMC

• 1 other identifier: CHCMU-CCMM-01
• Study Type: observational
• Target: 3,423
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (3)

• 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

Interventions

NGS panel DIAGNOSTIC_TEST

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

Eligibility Criteria

• Age: 1 Minute - 28 Days
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Neonates in one of the study hospitals

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Children's Hospital of Chongqing Medical University: lead
• Northwest Women's and Children's Hospital, Xi'an, Shaanxi: collaborator
• Maternal and Child Health Hospital of Hubei Province: collaborator
• The First Hospital of Jilin University: collaborator
• Xuzhou Maternity and Child Health Care Hospital: collaborator

Study Sites (1)

Children's Hospital of Chongqing Medical University

Chongqing, 400014, China

Location

MeSH Terms

Conditions

Congenital Abnormalities; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Lin Zou, Ph.D

  Children's Hospital of Chongqing Medical University

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Research assitant

Study Record Dates

• First Submitted: June 7, 2019
• First Posted: June 12, 2019
• Study Start: October 1, 2019
• Primary Completion: December 31, 2021
• Study Completion: December 31, 2021
• Last Updated: April 12, 2022

Record last verified: 2022-04

Data Sharing

• IPD Sharing: Will share

Locations

CN (1)