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

NCT03984266 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 3423

Last updated 2022-04-12

No results posted yet for this study

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

DIAGNOSTIC_TEST

NGS panel

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

Sponsors & Collaborators

  • Northwest Women's and Children's Hospital, Xi'an, Shaanxi

    collaborator OTHER

  • Maternal and Child Health Hospital of Hubei Province

    collaborator OTHER

  • The First Hospital of Jilin University

    collaborator OTHER

  • Xuzhou Maternity and Child Health Care Hospital

    collaborator OTHER

  • Children's Hospital of Chongqing Medical University

    lead OTHER

Principal Investigators

  • Lin Zou, Ph.D · Children's Hospital of Chongqing Medical University

Eligibility

Min Age
1 Minute
Max Age
28 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-10-01
Primary Completion
2021-12-31
Completion
2021-12-31

Countries

  • China

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03984266 on ClinicalTrials.gov