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Harmony NIPT with 22q11.2 Screening

Dynacare Prenatal Solutions offers you increased peace of mind with additional screening for 22q11.2 deletion, a condition associated with heart defects, poor immune system function, low calcium levels which can lead to seizures, cleft palate, and delayed development. Research suggests that without screening, the syndrome is often missed due to symptom variability.

22q11.2 deletion syndrome is caused by a missing piece of chromosome 22. It occurs in about 1 in 1,000 pregnancies. The majority of children with 22q11.2 deletion have heart defects, immune system problems, learning challenges, and specific facial features. Some children with the condition also have intellectual disability, feeding problems, speech delays, low calcium levels, kidney problems, and/or seizures. Children with 22q11.2 deletion have an increased chance of autism, and may develop psychiatric conditions such as schizophrenia later in life.

Early prenatal testing for 22q11.2 deletion provides families and doctors with important information in order to properly care for the pregnancy and the newborn. Babies with 22q11.2 deletion may have special healthcare needs. Some babies with 22q11.2 deletion need surgery in the newborn period.

Sample Type: Maternal Blood

Preparation Instructions: none.

Additional Materials
Patient Brochure

Other Considerations

Any pregnancy has a potential risk of 22q11.2 deletion. Babies born with 22q11.2 deletion usually do not have a family history of the condition. Unlike Trisomy 21 (Down syndrome) or other genetic conditions caused by entire extra or missing chromosomes, women of all ages have an equal chance of having a baby with 22q11.2 deletion.

If results indicate an increased chance of 22q11.2 deletion in a pregnancy, additional testing may be offered in order to confirm whether the pregnancy actually has 22q11.2 deletion.

How to Get a Harmony Prenatal Test

Harmony non-invasive prenatal test with 22q11.2 deletion is available as early as 10 weeks of pregnancy.
Follow these steps to obtain your test:

  • 1. Download a Test Requisition
  • 2. Obtain Your Doctor’s Signature

    Arrange for your doctor to sign a printout of your test requisition. (All laboratory requisitions must be signed by a healthcare provider.) You will also need to read and sign the Patient Consent portion of the requisition.

  • 3. Provide Sample

    The Harmony test uses a small sample of your blood that is easily collected. For collection in Ontario, Quebec or Manitoba, Find a Dynacare laboratory and health services centre location. For collection in other provinces, call 1.888.988.1888.

  • 4. Get Your Results

    Your healthcare provider will receive a report with your test results. You may wish to schedule an appointment to discuss.

    Dynacare Prenatal Solutions offers genetic counselling as part of the Harmony test package. You can speak to a genetic counsellor about your test results by calling 1.888.988.1888.