Non-Invasive Chromosomal Evaluation of 22q11.2 (22Q)
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|ClinicalTrials.gov Identifier: NCT02541058|
Recruitment Status : Completed
First Posted : September 4, 2015
Last Update Posted : April 30, 2020
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|Condition or disease|
|Study Type :||Observational|
|Actual Enrollment :||420 participants|
|Official Title:||Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma|
|Study Start Date :||June 2015|
|Actual Primary Completion Date :||March 17, 2020|
|Actual Study Completion Date :||March 17, 2020|
|Confirmed 22q.11.2 deletion/duplication|
|Suspected 22q.11.2 deletion/duplication|
- Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients [ Time Frame: 18 months ]
Biospecimen Retention: Samples With DNA
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|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
|Sampling Method:||Non-Probability Sample|
- Patient is ≥18 years of age and able to provide consent or, if under the age of 18, the patient has parental consent and child assent provided as required by the governing ethics committee.
- If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.
Patients must meet at least one of the following conditions at the time of enrollment:
- are pregnant with abnormal fetal cardiac findings on ultrasound and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
- are pregnant with fetal ultrasound findings consistent with a 22q11.2 deletion/duplication phenotype and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
- are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available;
- are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2;
- If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.
Patients meeting any of the following criteria will be excluded from the study:
1. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02541058
|The Fetal Medicine Foundation Belgium|
|Brussles, Belgium, 1020|
|Study Director:||Frank Ong, MD||Roche Sequencing Solutions|
|Responsible Party:||Cindy Cisneros, CRA, Roche Sequencing Solutions|
|Other Study ID Numbers:||
|First Posted:||September 4, 2015 Key Record Dates|
|Last Update Posted:||April 30, 2020|
|Last Verified:||April 2020|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Undecided|