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NCT03984266
The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects
trial testing NGS panel in Birth Defect in 3,423 participants. Completed in 31 December 2021.
31 December 2021
Quick facts
| Lead sponsor | Children's Hospital of Chongqing Medical University |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 3,423 |
| Start date | 1 October 2019 |
| Primary completion | 31 December 2021 |
| Estimated completion | 31 December 2021 |
| Sites | 1 location across China |
Drugs / interventions tested
- NGS panel
Conditions studied
- Birth Defect — all drugs for Birth Defect →
- Newborn; Fit — all drugs for Newborn; Fit →
- Genetic Diseases — all drugs for Genetic Diseases →
- Multiple Malformation — all drugs for Multiple Malformation →
Sponsor
Children's Hospital of Chongqing Medical University
Who can join
Adults 1 Minute to 28 Days, any sex, with Birth Defect or Newborn; Fit. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
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.
Publications & conference data
2 peer-reviewed publications reference this trial (live from Europe PMC):
-
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z, He X, Wang D, Gu M, et al · · 2024 · cited 13× · PMID 38284445 · DOI 10.1002/mgg3.2357 -
Precision medicine via the integration of phenotype-genotype information in neonatal genome project.
Dong X, Xiao T, Chen B, Lu Y, et al · · 2022 · cited 6× · PMID 38933389 · DOI 10.1016/j.fmre.2022.07.003
Verify or expand the search:
- PubMed search for NCT03984266
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for Birth Defect
Currently open trials in the same condition.
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- NCT03775954 — Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise · recruiting
Other Children's Hospital of Chongqing Medical University trials
Trials by the same sponsor.
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT03984266 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Children's Hospital of Chongqing Medical University
- Last refreshed: 12 April 2022
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT03984266.
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