Non-Invasive Chromosomal Evaluation of 22q11.2

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.