Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma

Cindy Cisneros1 site in 1 country420 target enrollmentJune 2015

Conditions22q.11.2 Deletion/Duplication

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: 22q.11.2 Deletion/Duplication
Sponsor: Cindy Cisneros
Enrollment: 420
Locations: 1
Primary Endpoint: Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients
Status: Completed
Last Updated: 6 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

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.

Registry

clinicaltrials.gov

Start Date

June 2015

End Date

March 17, 2020

Last Updated

6 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Cindy Cisneros

Responsible Party

Sponsor Investigator

Principal Investigator

Cindy Cisneros

CRA

Roche Sequencing Solutions

Eligibility Criteria

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: