Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on … (NCT02109770) | Clinical Trial Compass
CompletedNot Applicable
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
United States216 participantsStarted 2012-10
Plain-language summary
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.
Who can participate
Sex
ALL
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:
* Couples who have a child diagnosed with an autosomal chromosome abnormality (e.g. Down syndrome, Edwards syndrome, Patau syndrome).
* Couples who have a child diagnosed with a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome, Triple X syndrome, 47, XYY).
* Couples who have a child diagnosed with a microdeletion/duplication syndrome (a positive microarray test).
Exclusion criteria:
* Not an English language or Spanish language speaker
* Genetics report is not available
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
Sensitivity and Specificity of the test to diagnose chromosomal microdeletions and aneuploidy in a fetus