NCT07515976

Mapping of Genomic Structural Variations in Major Birth Defects

Not yet recruiting Last updated 7 April 2026

What this trial tests

trial testing Long - read DNA sequencing in Prenatal Diagnosis in 100 participants. Not yet recruiting.

Timeline

1 May 2026

Primary endpoint
31 May 2027

30 November 2027

Quick facts

Lead sponsor	Peking Union Medical College Hospital
Status	Not yet recruiting
Study type	OBSERVATIONAL
Enrollment	100
Start date	1 May 2026
Primary completion	31 May 2027
Estimated completion	30 November 2027

Drugs / interventions tested

• Long - read DNA sequencing

Conditions studied

• Prenatal Diagnosis — all drugs for Prenatal Diagnosis →

Sponsor

Peking Union Medical College Hospital

Who can join

Adults 20 to 45, female only, with Prenatal Diagnosis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

In the context of intricate cases with ambiguous prenatal genetic diagnoses, this project intends to carry out long - read DNA sequencing data analysis on birth defect cases and family samples. The emphasis lies on the extraction and identification of individual - specific genomic characteristics, as well as the development of detection algorithms for all categories of structural variations (SV), including complex SV. It will establish a pan - genomic reference map specific to the Chinese population to facilitate the identification of pathogenic SV in birth defect cases and family samples of the Chinese population, and delineate the detailed SV spectrum of major birth defects in the Chinese population. Additionally, the project will conduct in - depth analyses of the genetic and pathogenic roles of different types of SV in birth defects, offering a theoretical foundation for promoting the early warning, intervention, and prevention of major birth defects in China.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.