Non-Invasive Chromosomal Evaluation of 22q11.2

22q.11.2 Deletion/Duplication Clinical Trial

— 22Q  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02541058
• Other study ID #: AD202
• Status: Completed
• Start date: June 2015
• Est. completion date: March 17, 2020

Study information

• Verified date: April 2020
• Source: Roche Sequencing Solutions
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 420
• Est. completion date: March 17, 2020
• Est. primary completion date: March 17, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• 22q.11.2 Deletion/Duplication

Locations

Country	Name	City	State
Belgium	The Fetal Medicine Foundation Belgium	Brussles

Sponsors (1)

Lead Sponsor	Collaborator
Cindy Cisneros

Country where clinical trial is conducted

Belgium, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients		18 months