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Thursday 12 June 2014

What is the role of non-invasive prenatal testing (NIPT) within provincial health care frameworks?

By Maeghan Toews

Three things to know about the role of NIPT in provincial health care systems:

  1. NIPT is used to detect fetuses with an increased chance of having certain genetic disorders, such as Down syndrome, as well as fetal sex. It involves a blood test taken during pregnancy (at around 10 weeks) that analyzes fragments of fetal DNA that are present in maternal blood.

  2. Provincial prenatal testing frameworks involve screening tests (eg. maternal serum testing) available to all pregnant women to identify pregnancies at increased risk of carrying a fetus with certain disorders, followed by invasive diagnostic testing (ie. amniocentesis and CVS) available to those who screen positive or are otherwise at ‘high risk’. NIPT is currently only recommended for use as a secondary screening test for ‘high risk’ pregnancies. Risk factors include maternal age, family history, and positive results from the primary screening tests.

  3. With the exception of Ontario, NIPT is not publically funded, but available to those ‘high risk’ women who want the test and can afford to pay for it.

Three myths about NIPT’s integration with publically funded prenatal tests:

Myth #1: NIPT will replace amniocentesis in the very near future.

The Reality: NIPT is highly accurate at detecting certain disorders in ‘high risk’ pregnancies and may therefore reduce the number of women undergoing the more invasive tests which carry a small risk of fetal loss. However, NIPT is currently less accurate and only capable of detecting a very limited number of genetic abnormalities, and invasive testing is therefore recommended to confirm positive NIPT results.

Myth #2: NIPT will/should become a routine part of prenatal blood work.

The Reality: There are concerns that the routinization of this blood test may impact patients’ ability to fully comprehend the nature, limitations and implications of genetic testing. Patients should be fully informed about these issues and the availability of genetic counselling.

Myth #3: NIPT is universally welcomed as a positive development.

The Reality: Although the benefits of NIPT have been widely emphasised, NIPT has also attracted controversy, specifically with respect to its ability to be used for sex selection and its potential impact on the disability community.  

Maeghan Toews is a Research Associate at the Health Law Institute at the University of Alberta with a research focus on the legal and policy implications of emerging health technologies in Canada


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