Noninvasive Prenatal Testing (NIPT)

Utilizing NIPT in a maternal-fetal medicine practice: Dr. Martin Chavez | Illumina Video

NIPT is a noninvasive advancement in genetic screening for certain chromosome abnormalities as early as week 10 of pregnancy. This simple blood test is used to analyze for the baby’s DNA in the mother’s blood. It detects for an abnormal number (“aneuploidy”) of certain chromosomes associated with respective genetic syndromes. The Verifi Prenatal Test screens for trisomies (three instead of two copies) 21, 18 and 13. This test is available for singleton and twin pregnancies. Add-ons (available to singleton pregnancies only) include a microdeletion panel and aneuploidies of all chromosomes. These are available through the Verifi Plus Prenatal Test. Aneuploidies of sex chromosomes can also be screened for, including 0X, XXX, XXY, and XYY. Fetal sex can also be identified for determining risk of X-linked disorders (XX or XY). The Verifi Prenatal test delivers accurate genetic information safely and noninvasively—without the risks of invasive procedures, such as amniocentesis or chorionic villus sampling (CVS). All this knowledge can be yours in as little as 10 days’ time.

Chromosome aneuploidies the basic Noninvasive Prenatal Test (Verifi Prenatal Test) can identify.

Who Gets It?

To be eligible for NIPT from Mount Sinai Services, first speak with your family doctor, obstetrician, or genetic counsellor. MSS offers the Verifi and Verifi Plus Prenatal Tests to low-risk, private paying patients; low-risk pregnancy patients (criteria determined by your healthcare provider) are not candidates for Ministry of Health reimbursement but qualify for NIPT through MSS. Please see our respective patient ordering guides for MSH and non-MSH patients to receive this test through your healthcare provider. You must be at least 10 weeks gestation for the blood draw. Results will be provided to your healthcare provider.

How Well Does It Work?

With its robust testing method including full-genome sequencing, the Verifi Prenatal Test offers the lowest test failure rate of 0.1%*—no need for redraws, the inconvenience of another blood-draw visit, or delay in getting test results. Additionally, the test has an extremely high sensitivity of >99.9%* and specificity of 99.8%*. Sensitivity is the proportion of patients with the condition that will test positive for the condition. Specificity is the proportion of patients without the condition that will test negative for the condition. *Please keep in mind that NIPT failures, false positives, and false negatives may occur. NIPT is a powerful screening test, but more invasive methods are required for a definitive diagnosis. Positive test results should be discussed further with a genetic counsellor.

How Do I Get It?

Please speak with your healthcare provider. Note that from October 19^th 2015, Ministry of Health-reimbursed NIPT is performed only at LifeLabs and Dynacare laboratories. MSS offers the self-pay, Verifi Prenatal and Prenatal Plus Tests.

We encourage you to read our patient guide to familiarize yourself with the process and required forms:

Patient Guide (for MSH and non-MSH patients)
Overview of Requisition and Blood Draw Process (please see the above guide for details)

Forms:

Self-Pay Verifi Requisition and Consent Form (ensure completion; your provider must sign this form or the NIPT Blood Draw Information handout they may provide to you)
Credit Card Authorization Form (please submit in a sealed envelope with your name on the front)
MSS NIPT Request Form (for samples not collected at a Mount Sinai affiliate / MSS blood collection partner)

More information about the Prenatal Test:

You may contact Mount Sinai Hospital for genetic counselling if you have concerns or questions about your results. The Prenatal Diagnosis and Medical Genetics Program can be reached at 416-586-4800 x 4523.