Publications

Prenatal Screening Ontario (PSO) was created as a provincial resource to enhance access to prenatal screening, provide education supports, facilitate ongoing quality assurance and support the incorporation of evolving technology or screening options.  For more information about PSO activities, or to access educational or ordering resources, please visit the PSO website.

Key to the work of the program is the understanding of how screening is utilized and performs in our population, and PSO has produced a number of publications to widely disseminate our findings. Selected publications are below:

Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population-based retrospective study in Ontario, Canada.

Acta Obstet Gynecol Scand. 2024 doi: 10.1111/aogs.14965. 

Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.

JAMA 7(3):e243689 doi:10.1001/jamanetworkopen.2024.3689.

Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada.

BMC Pregnancy Childbirth. 2024  6;24(1):584. doi: 10.1186/s12884-024-06774-8. 

First and second trimester maternal serum markers for prenatal aneuploidy screening: An update on the adjustment factors for race, smoking, and insulin dependent diabetes mellitus.

Clin Biochem. 2023 118:110596. doi: 10.1016/j.clinbiochem.2023.110596. 

Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies.

AJOG 2023. DOI: 10.1016/j.ajog.2023.01.007 

The main goal of this study was to assess the association between a failed cell-free DNA test and common aneuploidies. The study showed that cell-free DNA screening test failures are relatively common. Although repeat testing improves the likelihood of an informative result, pregnancies with a failed cell-free DNA screen upon first attempt remain at increased risk for common autosomal aneuploidies, but not sex chromosome aneuploidies.

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The impact of maternal and geographical factors on the uptake of NIPT: A retrospective cohort study

Prenat Diagn 2022; 42(13): 1594-1605; doi: 10.1002/pd.6257

The objectives of this study were to investigate recent trends in non-invasive prenatal testing (NIPT) utilisation. The study found there was substantial variation in NIPT uptake between regions within the province. The highest uptake was found in urban areas, highest quintile of neighbourhood income and education, for those who were ≥40 years of age and had a history of previous aneuploidy, for those with a prenatal care visit in the first trimester, multiple pregnancy, multigravidity and body mass index within the normal range.

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

CMAJ 2021;193(30):E1156-E1163; doi: 10.1503/cmaj.202456.

This study described the population-based performance of Ontario's prenatal screening program, which incorporates publicly funded cfDNA screening for specific indications, and the effect of cfDNA testing on the screening and diagnostic choices made by pregnant people. This publicly funded screening program showed robust performance, a substantial reduction in prenatal diagnostic testing and that pregnant people exercise autonomy in their choices about prenatal screening and diagnosis.

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

CMAJ Open 2018;6(4):E436-E444; doi: 10.9778/cmajo.20180046

This study examined the trends in use of different modalities of prenatal screening (multiple-marker screening, cell-free DNA screening [cfDNA]) and diagnostic testing before and after the implementation of provincial funding for cfDNA screening in Ontario. Results demonstrated that since the implementation of publicly funded cfDNA, cfDNA screening increased and prenatal diagnostic testing decreased.

Enhanced first trimester screening for trisomy 21 with contingent cell-free fetal DNA: a comparative performance and cost analysis

JOGC 2017;39(9):742-749; doi: 10.1016/j.jogc.2017.01.025

This study compared four prenatal screening strategies to integrate cell-free DNA screening into a publicly funded prenatal screening algorithm. The results suggest that using enhanced first trimester screening (eFTS) with contingent cfDNA screening following a positive eFTS result is a cost-effective system that doesn't compromise screening performance.