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Research

Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study

Tianhua Huang, Shelley Dougan, Mark Walker, Christine M. Armour and Nan Okun
October 05, 2018 6 (4) E436-E444; DOI: https://doi.org/10.9778/cmajo.20180046
Tianhua Huang
Ontario Prenatal Screening Program, Better Outcomes Registry & Network (BORN) Ontario (Huang, Dougan, Walker, Armour, Okun), Ottawa, Ont.; Genetic Program (Huang), North York General Hospital, Toronto, Ont.; Regional Genetics Program (Armour), Children’s Hospital of Eastern Ontario, Ottawa, Ont.; Maternal Fetal Medicine Program (Okun), Mt. Sinai Hospital, University of Toronto, Toronto, Ont.
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Shelley Dougan
Ontario Prenatal Screening Program, Better Outcomes Registry & Network (BORN) Ontario (Huang, Dougan, Walker, Armour, Okun), Ottawa, Ont.; Genetic Program (Huang), North York General Hospital, Toronto, Ont.; Regional Genetics Program (Armour), Children’s Hospital of Eastern Ontario, Ottawa, Ont.; Maternal Fetal Medicine Program (Okun), Mt. Sinai Hospital, University of Toronto, Toronto, Ont.
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Mark Walker
Ontario Prenatal Screening Program, Better Outcomes Registry & Network (BORN) Ontario (Huang, Dougan, Walker, Armour, Okun), Ottawa, Ont.; Genetic Program (Huang), North York General Hospital, Toronto, Ont.; Regional Genetics Program (Armour), Children’s Hospital of Eastern Ontario, Ottawa, Ont.; Maternal Fetal Medicine Program (Okun), Mt. Sinai Hospital, University of Toronto, Toronto, Ont.
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Christine M. Armour
Ontario Prenatal Screening Program, Better Outcomes Registry & Network (BORN) Ontario (Huang, Dougan, Walker, Armour, Okun), Ottawa, Ont.; Genetic Program (Huang), North York General Hospital, Toronto, Ont.; Regional Genetics Program (Armour), Children’s Hospital of Eastern Ontario, Ottawa, Ont.; Maternal Fetal Medicine Program (Okun), Mt. Sinai Hospital, University of Toronto, Toronto, Ont.
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Nan Okun
Ontario Prenatal Screening Program, Better Outcomes Registry & Network (BORN) Ontario (Huang, Dougan, Walker, Armour, Okun), Ottawa, Ont.; Genetic Program (Huang), North York General Hospital, Toronto, Ont.; Regional Genetics Program (Armour), Children’s Hospital of Eastern Ontario, Ottawa, Ont.; Maternal Fetal Medicine Program (Okun), Mt. Sinai Hospital, University of Toronto, Toronto, Ont.
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    Figure 1:

    Use of multiple-marker screening (MMS) among all singleton pregnancies with an expected date of delivery between July 1, 2012, and Mar. 31, 2016, in Ontario, by census division. Note: LHIN = Local Health Integration Network.

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    Figure 2:

    Use of cell-free fetal DNA (cffDNA) screening among singleton pregnancies with an expected date of delivery between July 1, 2014, and Mar. 31, 2016, that had a positive result of multiple-marker screening (MMS), by census division. Note: LHIN = Local Health Integration Network.

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    Figure 3:

    Prenatal screening pathways before and after cell-free fetal DNA (cffDNA) screening was funded. Women who did not have follow-up testing following a positive result of multiple-marker screening are not shown.

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    Figure 4:

    Rates of uptake of cell-free fetal DNA (cffDNA) screening and prenatal diagnostic testing among all singleton pregnancies with an expected date of delivery between July 2012 and March 2016. Note: CVS = chorionic villous sampling.

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    Figure 5:

    Rates of uptake of cell-free fetal DNA (cffDNA) screening and prenatal diagnostic testing among singleton pregnancies with an expected date of delivery between July 2012 and March 2016 that had a positive result of multiple-marker screening. Note: CVS = chorionic villous sampling.

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    Table 1:

    Use of cell-free fetal DNA screening and prenatal diagnostic testing in singleton pregnancies by level of risk for trisomy 21 based on multiple-marker screening

    Multiple-marker screening risk for trisomy 21Before cffDNA screening funded*; rate of uptake, %After cffDNA screening funded†; rate of uptake, %
    cffDNA screeningPrenatal diagnostic testingcffDNA screening or prenatal diagnostic testingcffDNA screeningPrenatal diagnostic testingcffDNA screening or prenatal diagnostic testing
    ≥ 1:104.067.570.230.554.176.1
    1:11–1:506.163.167.844.340.578.8
    1:51–1:1008.055.962.651.129.277.3
    1:101–1:2006.450.956.355.123.576.3
    1:201–1:3503.113.115.925.26.029.9
    1:351–1:5001.46.47.512.52.314.6
    1:501–1:10001.14.15.29.31.610.6
    1:1000–1:50000.62.02.65.31.06.2
    < 1:50000.20.70.92.00.52.4
    All risk groups‡0.63.33.85.01.96.6
    • Note: cffDNA = cell-free fetal DNA.

    • ↵* Expected date of delivery between July 2012 and June 2014.

    • ↵† Expected date of delivery between July 2014 and March 2016.

    • ↵‡ All risk groups plus no multiple-marker screening result.

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CMAJ Open: 6 (4)
Vol. 6, Issue 4
1 Oct 2018
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Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study
Tianhua Huang, Shelley Dougan, Mark Walker, Christine M. Armour, Nan Okun
Oct 2018, 6 (4) E436-E444; DOI: 10.9778/cmajo.20180046

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Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study
Tianhua Huang, Shelley Dougan, Mark Walker, Christine M. Armour, Nan Okun
Oct 2018, 6 (4) E436-E444; DOI: 10.9778/cmajo.20180046
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