Enhanced First Trimester Screening for Trisomy 21 with Contingent Cell-Free Fetal DNA: A Comparative Performance and Cost Analysis

Huang, Tianhua; Meschino, Wendy S.; Teitelbaum, Mari; Dougan, Shelley; Okun, Nan

doi:10.1016/j.jogc.2017.01.025

Cited by 10 publications

(10 citation statements)

References 24 publications

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“…For cost-effective usage of NIPT in routine practice, distinct approaches are offered. Contingent model which combines first trimester screening with cfDNA screening is promising but there is no worldwide consensus yet (Huang, Meschino, Teitelbaum, Dougan, & Okun, 2017).…”

Section: Introductionmentioning

confidence: 99%

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Koç

Kaya

Özyılmaz

et al. 2019

Molec Gen & Gen Med

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Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. The approach is called “fetal cfDNA screening” and in contrast to noninvasive conventional serum screening, it provides the identification of 98%–99% of fetuses with Down syndrome. Methods Retrospective analysis of targeted noninvasive prenatal testing (NIPT) (Clarigo Test) pregnancies with moderate risk, which we have reported between 2016 and 2018 years is presented. Two separate laboratory workflows and NGS platforms are used for the same targeted NIPT analysis. Results In total, 4,594 pregnant women were investigated. Initial 3,594 cases are studied by MiSeq platform, the last 1,000 cases by NextSeq. Failure rate for MiSeq platform is 10.9% and for NextSeq is 8.7%. Automatically reported cases constitute 75% of the MiSeq group and 87% of the NextSeq group. Conclusions Targeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases.

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Section: Introductionmentioning

confidence: 99%

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Koç

Kaya

Özyılmaz

et al. 2019

Molec Gen & Gen Med

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“…The cost‐effectiveness of a contingent model in Ontario has been ascertained in previous studies showing it to be more cost‐efficient than a universal cfDNA screening approach . As shown in Table , the current contingent model for publicly funded cfDNA screening in Ontario is complex with many pathways available for pregnant individuals to access the test.…”

Section: Discussionmentioning

confidence: 99%

“…Previous work has explored the various funding models for integrating cfDNA screening into a provincial publicly funded prenatal screening system; in 2014, Ontario implemented a modified contingent model for cfDNA screening for the common autosomal aneuploidies (Trisomy 21, 18, 13) and sex chromosome aneuploidies. The criteria for funded cfDNA screening were based on recommendations from a group of experts in the province and aimed to contain the costs of publicly funded cfDNA screening, while optimizing screening performance by ensuring those at highest risk could receive the test at no personal cost.…”

Section: Introductionmentioning

confidence: 99%

A 2‐year review of publicly funded cell‐free DNA screening in Ontario: utilization and adherence to funding criteria

et al. 2019

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Objective Ontario offers a publicly funded modified contingent model of prenatal screening for aneuploidy in which cell‐free DNA (cfDNA) screening is covered for pregnancies at higher risk of fetal aneuploidy. The objective of this study was to review utilization of provincially funded cfDNA screening and adherence to the criteria laid out in Ontario prenatal screening guidelines. Methods This was a descriptive cohort study using data collected by Ontario's prescribed maternal and child registry. The study population included all pregnant individuals who received cfDNA screening from January 2016 to December 2017. Results The most common criteria for provincially funded cfDNA screening were advanced maternal age ≥40 years (37.7%), positive multiple marker screen (34.1%), modifying risk factors such as ultrasound soft markers (7.1%), and previous aneuploidy (5.5%). The audit demonstrated that 2.9% of funded cfDNA screens tests did not meet funding criteria, and that 11.4% of self‐paid cfDNA screens could have been publicly funded. Conclusion Reviewing and auditing the application of criteria for funded cfDNA screening using prescribed registry data allows an opportunity to identify areas where targeted education may improve adherence to standardized screening protocols, and provides a basis for reassessment of the funding model.

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“…With this strategy, 11% of samples are reflexed to cfDNA screening, the overall DR for trisomy 21 is 95% and FPR is as low as 0.02% [ 13 ]. While there are multiple publications on the cost and performance of primary and contingent cfDNA screening, only one study has focused on the cost and effectiveness of a reflex cfDNA screening strategy [ 15 – 17 ].…”

Section: Introductionmentioning

confidence: 99%

Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

Huang

Gibbons

Rashid

et al. 2020

BMC Pregnancy Childbirth

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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.

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Enhanced First Trimester Screening for Trisomy 21 with Contingent Cell-Free Fetal DNA: A Comparative Performance and Cost Analysis

Cited by 10 publications

References 24 publications

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

A 2‐year review of publicly funded cell‐free DNA screening in Ontario: utilization and adherence to funding criteria

Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

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