Mapping of Genomic Structural Variations in Major Birth Defects
Starting soon
Conditions studied: Prenatal Diagnosis
In brief
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.
Key facts
- Study ID
- NCT07515976
- Run by
- Peking Union Medical College Hospital
- People needed
- 100
- Starts
- 2026-05-01
- Expected to finish
- 2027-11-30
- Last updated by the study team
- 2026-04-07
Who can join
Age: 20 and older, up to 45. Sex: female. Healthy volunteers: accepted.
You may qualify if…
- Single pregnancy with ultrasound findings of fetal structural abnormalities
- Negative results for prenatal WES, karyotyping, CMA, etc.
- Only one heterozygous pathogenic variant is detected in a suspected recessive genetic disorder, with no second suspected pathogenic variant identified.
You may not qualify if…
- Twin/multiple pregnancy
- No interventional prenatal diagnosis performed
- Refusing further testing
Full record on ClinicalTrials.gov
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