NCT02541058CompletedNot Applicable
Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma
Cindy Cisneros1 site in 1 country420 target enrollmentStarted: June 2015Last updated:
Conditions
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 420
- Locations
- 1
- Primary Endpoint
- Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
Study Overview
Brief Summary
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
Study Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Prospective
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •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.
- •Exclusion Criteria
- •Patients meeting any of the following criteria will be excluded from the study:
- •Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
Time Frame: 18 months
Secondary Outcomes
No secondary outcomes reported
Investigators
Cindy Cisneros
CRA
Roche Sequencing Solutions
Study Sites (1)
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