Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

Shelley Dougan; Nanette Okun; Kara Bellai‐Dussault; Lynn Meng; Heather Howley; Tianhua Huang; Jessica Reszel; Andrea Lanes; Mark Walker; Christine M. Armour

doi:10.1503/cmaj.202456

August 2, 2021Canadian Medical Association JournalOpen Access

Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

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Key Points

Evaluate the clinical performance, impact on invasive diagnostic procedure rates, and patient decision-making within a universal, publicly funded prenatal screening program incorporating cell-free fetal DNA analysis.
Assessed a publicly funded universal prenatal screening program utilizing cell-free fetal DNA (cfDNA) analysis for common aneuploidies in Ontario, Canada.
Tracked program diagnostic performance, rates of subsequent invasive prenatal diagnostic testing, and screening choices made by pregnant individuals.
cfDNA screening demonstrated robust performance for the detection of common fetal aneuploidies across the population (specific numerical performance metrics not reported in abstract).
Implementation was associated with a substantial reduction in invasive prenatal diagnostic testing while supporting autonomous reproductive decision-making among pregnant individuals.

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Implication

Population-based evaluation reveals reduced invasive testing and robust accuracy in pregnant individuals, suggesting substantial clinical utility for universal cell-free fetal DNA screening.

Abstract

This publicly funded screening program, incorporating cfDNA analysis for common aneuploidies, showed robust performance, a substantial reduction in invasive prenatal diagnostic testing and that pregnant people exercise autonomy in their choices about prenatal screening and diagnosis.

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Dougan et al. (2021) studied this question.

synapsesocial.com/papers/69d97bd994760e72e6a3cb60 https://doi.org/10.1503/cmaj.202456

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Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

Key Points

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Cite This Study

Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

Key Points

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Implication

Abstract

Discussion

Cite This Study

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