Non-Invasive Chromosomal Evaluation of 22q11.2

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02541058

Acronym

22Q

Enrollment

420

Registered

2015-09-04

Start date

2015-06-30

Completion date

2020-03-17

Last updated

2020-04-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

22q.11.2 Deletion/Duplication

Keywords

Velocardiofacial Syndrome, Shprintzen Syndrome, Conotruncal Defects, Chromosomal Abnormalities, 22q, 22q.11.2, deletion, duplication

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

Inclusion criteria

1. 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. 2. If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw. 3. Patients must meet at least one of the following conditions at the time of enrollment: 1. 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; 2. 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; 3. are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available; 4. are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2; 4. 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: 1\. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.

Design outcomes

Primary

Measure	Time frame
Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients	18 months

Countries

Belgium

Outcome results