Canadian project to compare non-invasive prenatal tests

13 August 2013

A new Canadian research project has received more than $10 million to assess the comparative effectiveness of non-invasive prenatal testing (NIPT) techniques for fetal aneuploidy.

NIPT allows safe, early testing for common aneuploidies such as Down’s Syndrome and typically performs better than current screening strategies among women at high risk of such abnormalities. It can substantially reduce the number of women identified as having a fetus potentially affected, for whom invasive testing (with an associated risk of miscarriage) is needed for confirmation.
With funding from the Canadian Institutes of Health Research, Genome Quebec and others, the PEGASUS (Personalized Genomics for Prenatal Aneuploidy Screening Using Maternal Blood) project will compare different non-invasive prenatal tests, alone and in combination with current prenatal screening approaches. They will rate performance, cost-effectiveness and ethical and social issues, based on findings in 3,600 high risk and 2,000 low risk pregnant women.
Comment: This is a practical project, combining performance assessment of different non-invasive tests with consideration of key issues relevant to successful implementation in clinical practice, as set out by the PHG Foundation in our 2009 report, Cell-free fetal nucleic acids for non-invasive prenatal diagnosis.
The tests examined will include Ariosa's Harmony, one of several commercial tests currently available; the others include Verinata / Illumina’s Verifi, Sequenom’s MaterniT21 Plus and Natera’s Panorama, but Harmony was said to be the most affordable – an essential consideration in a largely publicly-funded health system. Importantly, comparing performance in high and low-risk women will allow evidence on clinical utility in both groups. In the US, where health insurance and private healthcare providers cover the most of the population, there are concerns that the marketing strategies of commercial providers are targeting low risk pregnant women (the majority), for whom the benefits are more limited; see A New Era in Noninvasive Prenatal Testing.

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