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A Non-Invasive Prenatal Testing, newly approved by Health Canada, is empowering prospective Canadian parents to make better informed decisions earlier in their pregnancies.

Early pregnancy is a time of great joy, but also one of great uncertainty. Prenatal testing and monitoring through familiar technologies, such as ultrasound imaging, has provided peace of mind to prospective parents around the world for over half a century. Prenatal testing technology, however, continues to advance and non-invasive prenatal testing (NIPT) is making it possible for people to have access to critical information about their baby’s development earlier in the pregnancy than ever before.

When testing for chromosomal conditions like Down Syndrome (Trisomy 21), the landmark confirmatory test is amniocentesis, which involves sampling the amniotic fluid with a hollow needle inserted into the uterus. Due to the risk of miscarriage, it’s important that this not be a routine procedure. NIPT provides the opportunity for invaluable screening early on, before amniocentesis would be performed.

Looking at the literature, the science, and the clinical performance, there is no doubt that the better test should be offered first-line to everyone.

Michele D’Elia, Director of Medical Affairs at Roche Diagnostics

Non-Invasive Prenatal Testing mitigates risk and conserves health care resources

“When a prenatal test is described as non-invasive, it means a simple blood draw from the mother’s arm that analyzes cell-free fetal DNA versus the traditional amniocentesis procedure that involves a needle puncturing the amniotic sac,” explains Michele D’Elia, Director of Medical Affairs at Roche Diagnostics. “The purpose of NIPT is to screen for the most common genetic conditions. Considering its very low false positive rate, it will decrease the number of unnecessary amniocentesis procedures, which both saves money and avoids putting mothers and their babies at unnecessary risk.”

NIPT was originally developed in Hong Kong in 2011, and first came to Canada in 2012. Until recently, none of these tests had undergone the rigorous process leading to a Health Canada approval, the Canadian regulatory authority. “There is a knowledge gap, both in the general public and among healthcare professionals, where they assume that everything available on the market has been approved by Health Canada, when that is not the case,” says D’Elia. “There are a lot of NIPT tests available in the Canadian market, but only Harmony® has been approved by Health Canada. This approval insures that the product has been reviewed by Health Canada for safety, efficacy and quality, and that it is authorized for sale in Canada.”

Know what you need to know before that baby bump appears

The Harmony® test uses targeted genome analysis to screen for genetic disorders such as trisomy 13, 18, and 21 (Down Syndrome). It can also determine the sex of the baby. And crucially, it can provide this information as early as week 10, a critical time just before pregnancy begins to show and before most people choose to announce their pregnancy to family and friends. Most of the traditional methods provide results into the second trimester, which can make important decisions and planning regarding the pregnancy much more fraught. 

The test is also significantly more accurate than other options. “When you compare NIPT with serum-based screening or serum plus imaging, you can see that this is a technology leap,” says D’Elia. “The old methods have a roughly 90% sensitivity with an accepted false positive rate between 5%–10%. With NIPT that jumps to over 99% sensitivity and a false positive rate of less than 0.1%.”

Ask your doctor about NIPT

Currently, NIPT is not being offered as a first-line tool in most of Canada, but hopefully that will begin to change as more prospective parents have informed conversations about prenatal testing with their health care providers. A survey conducted in Quebec this year of 750 pregnant women, women looking to become pregnant, and their partners found that 93% considered it important to know about genetic and chromosomal abnormalities as early as possible.

D’Elia believes we should listen to them: “Looking at the literature, the science, and the clinical performance, there is no doubt that the better test should be offered first-line to everyone.” For more information, talk to your doctor about NIPTs. 

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