Mapping of Genomic Structural Variations in Major Birth Defects (NCT07515976) | Clinical Trial Compass
Not Yet RecruitingNot Applicable
Mapping of Genomic Structural Variations in Major Birth Defects
100 participantsStarted 2026-05-01
Plain-language summary
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.
Who can participate
Age range
20 Years – 45 Years
Sex
FEMALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* 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.
Exclusion Criteria:
* Twin/multiple pregnancy
* No interventional prenatal diagnosis performed
* Refusing further testing
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Complex genomic structural aberrations
Timeframe: When the test is completed，up to 6 weeks