Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies
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(2020) 20:713
RESEARCH ARTICLE
Open Access
Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies Tianhua Huang1,2,3* , Clare Gibbons1,4, Shamim Rashid1, Megan K. Priston1, H. Melanie Bedford1,5, Ellen Mak-Tam1 and Wendy S. Meschino1,5
Abstract Background: Prenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test results of three cfDNA screening implementation strategies: contingent, reflex and primary. Methods: We modelled enhanced first trimester screening (eFTS) as the first-tier test in contingent or reflex strategies. cfDNA test was performed contingent on or reflex from eFTS results. A comparison was made between cfDNA screening using sequencing technology and Rolling Circle Amplification (RCA)/imaging solution. All model assumptions were based on results from previous publications or information from the Ontario prenatal screening population. Results: At an eFTS risk cut-off of ≥1/1000, contingent and reflex cfDNA screening have the same detection rate (DR) (94%) for trisomy 21. Reflex cfDNA screening using RCA/Imaging solution provided the lowest false positive rate and cost. The number of women requiring genetic counselling and diagnostic testing was significantly reduced and women received their cfDNA screening result 9 days sooner compared with the contingent model. While primary cfDNA screening improved the trisomy 21 DR by 3–5%, it was more costly and more women required diagnostic testing. Conclusion: Reflex cfDNA screening is the most cost-effective prenatal screening strategy. It can improve the efficiency of prenatal aneuploidy screening by reducing the number of patient visits and providing more timely results. Keywords: Trisomy 21, Multiple marker prenatal screening, Non-invasive prenatal screening, Cell-free fetal DNA screening, Cost and performance
Background Prenatal screening for common chromosome aneuploidies has been a part of routine prenatal care in developed countries since the early 1990’s. Conventional prenatal screening tests, also known as multiple marker screening (MMS), measure maternal serum biochemical markers and, if performed in the first trimester, the nuchal * Correspondence: [email protected] 1 Genetics Program, North York General Hospital, 4001 Leslie Street, Toronto, Ontario M2K 1E1, Canada 2 Prenatal Screening Ontario, Better Outcomes Registry & Network (BORN) Ontario, Ottawa, Ontario, Canada Full list of author information is available at the end of the article
translucency (NT) ultrasound marker. MMS is used to estimate the risk for trisomy 21, 18 and 13 in the first or second trimesters of pregnancy [1, 2]. In recent years, cell-free fetal DNA (cfDNA) screening has been introduced into clinical use. cfDNA screening assesses the risk for aneuploidy in the fetus by measuring cell-free fetal DNA in maternal blood [3]. The m
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