The study consisted of three surveys aimed at three populations: pregnant women, their partners, and health professionals. This paper focuses specifically on the preferences of pregnant women, their partners, and health professionals regarding the implementation and coverage of NIPT by the public healthcare system. This study was part of a pan-Canadian research project titled “Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood” (or PEGASUS), aiming to “validate the performance and utility of for screening for major fetal chromosome imbalances”. Results presented here come from the first large-scale study of Canadian pregnant women, their partners and health professionals regarding their perceptions of and attitudes towards NIPT. However, little is known about the preferences of different Canadian publics regarding NIPT implementation and coverage. The cost-effectiveness analysis of NIPT and its introduction into the public healthcare system have been subject to studies in several countries such as Italy, Australia, Sweden, United States and Canada. In the other provinces, patients need to pay for the test out of pocket or through private insurance. Currently, in Canada, only the provinces of Ontario and British Columbia and the territory of Yukon have decided to reimburse the test under certain conditions, i.e., only for pregnant women at high risk of fetal aneuploidies, and at the time of the study, only Ontario was reimbursing the test. Such issues may be mitigated by ensuring NIPT is publicly funded. Moreover, the cost of NIPT in 2018 in Canada - C$300 to C$500 – can create a barrier to access for many prospective parents, which in turn, raises issues of equity of access and justice. However, concerns regarding sensitivity, specificity and positive predictive value remain.
In 2014, the International Society for Prenatal Diagnosis (ISPD) considered the offer of NIPT as a first-tier screening test for all pregnant women to be an “appropriate” option. In 2013, the Genetics Committee of the SOGC recommended that NIPT be offered to pregnant women who have been identified as being at increased risk of fetal aneuploidies, through the screening available in their province/territory, i.e. Each province/territory devised their own screening program, so the specific screening test used varies across Canada.
In 2011, the Society of Obstetricians and Gynecologists of Canada (SOGC) recommended that any prenatal screening test offered to Canadian women should have, at minimum, a detection rate of 75.0% with no more than a 3.0% false-positive rate in the first trimester and a detection rate of 75.0% with no more than a 5.0% false-positive rate in the second trimester. The current mainstream use of NIPT in Canada remains as a second-tier screening test offered to women who have undergone first-tier traditional screening and have been identified as having a high risk of trisomy. More recently, some have concluded, based on emerging data, that the technology is ready for implementation as a first-tier screening test for all pregnant women.
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Over time, professional societies recommended it as a second-tier screening test for women already identified as having a high-risk of trisomy based on traditional screening tests. NIPT was first offered in 2011 and in the early days it was thought to have the potential to rapidly become a diagnostic test that would replace invasive testing methods posing risk to the fetus. Performed as early as 9 weeks of pregnancy, NIPT holds no risk of miscarriage and offers clinical benefits over existing prenatal screening tests, such as maternal serum screening (MSS), by detecting the presence of trisomy 21 (Down syndrome, DS) with high sensitivity (99.9%) and specificity (98%). Non-Invasive Prenatal Testing (NIPT) 1 is an emerging technology aiming to detect fetal aneuploidies such as trisomies 21, 18 and 13 through the analysis of cell-free DNA (cfDNA) originating from the placenta and present in maternal blood.