Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis

Zhang, Wei; Mohammadi, Tima; Sou, Julie; Anis, Aslam H.

doi:10.1371/journal.pone.0225281

Cited by 21 publications

(16 citation statements)

References 39 publications

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“…In 2019, Zhang et al [ 10 ] used a microsimulation decision-analytic model to conduct a sample survey of 45,605 pregnant women in British Columbia, Canada. They concluded that NIPT screening was more effective and more expensive, and NIPT at 200 USD or less was more cost-effective as a first-line screening strategy.…”

Section: Discussionmentioning

confidence: 99%

Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome

et al. 2022

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Background Down syndrome (DS), also known as trisomy 21 (T21), is the most common genetic disorder associated with intellectual disability. There are two methods commonly used for prenatal testing of DS: serum screening (SS) for biomarkers in maternal serum and noninvasive prenatal testing (NIPT) for aneuploidy by cell-free DNA (cfDNA) in maternal plasma. However, cost-effectiveness analyses of these two methods are mostly based on data derived from simulations with various models, with theoretical values calculated. In this study, we statistically analyzed clinical DS screening data and pregnancy outcomes during the follow-up of pregnant women in Zhuhai City, China. The economics of the two mainstream prenatal DS screening methods was evaluated from a public health perspective. Methods A retrospective analysis was performed on the data of 17,363 pregnant women who received SS and NIPT during gestation in Zhuhai from 2018 to 2019, and a cost-effectiveness analysis was performed with four screening strategies. In strategy I, all pregnant women received SS, and those with T21 risk ≥1/270 had invasive prenatal diagnosis (IPD). In strategy II, all pregnant women received SS, those with T21 risk ≥ 1/270 had IPD, and those with 1/270 > T21 risk ≥ 1/1,000 had NIPT; then, women at high risk based on NIPT also had IPD. In strategy III, all pregnant women received SS, and those with T21 risk ≥1,000 had NIPT; then, women at high risk based on NIPT results had IPD. In strategy IV, all pregnant women received NIPT and those at high risk based on NIPT results had IPD. Finally, to assess the cost and effectiveness of DS screening, the total costs were calculated as the sum of screening and diagnosis as well as the direct and indirect economic burden during the average life cycle of DS patients. Results A total of 22 of the 17,363 (1/789) pregnant women had DS, of which only one woman was over 35 years of age. SS detected 1,024 cases at high risk of T21 (≥1/270), 8 cases were true positive, with a positive predictive value of 0.78% and a detection rate of 36.4%. NIPT detected 27 cases at high risk of T21 (Z ≥ 3) and 22 cases of DS, with a positive predictive value of 81.5% and a detection rate of 100%. Strategy I had the largest total cost of 65.54 million CNY, strategy II and III had similar total costs of 40 million CNY, and strategy IV had the lowest total cost of 14.91 million CNY. By comparison, the screening strategy with NIPT alone had the highest health economic value for DS. Conclusions SS was greatly affected by nuchal translucency and the accuracy of gestational age measured by ultrasonography. Unstandardized ultrasonography was an important reason for the low DS detection rate with SS. The influence of interfering factors on NIPT was much lower than in SS. NIPT can be used as an alternative to SS and as a primary screening strategy of prenatal DS screening for secondary prevention and control of birth defects. NIPT greatly decreased the frequency of IPD and the miscarriages associated with IPD, saved the limited medical and health resources, and greatly increased DS detection rate. Therefore, NIPT has great social and economic benefits.

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Section: Discussionmentioning

confidence: 99%

Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome

et al. 2022

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“…Contingent screening, i.e., performing cfDNA only in those patients with high risk in the combined test, has shown to be a cost-effective way to enhance first-trimester combined test [5, 6, 8]; however, the difficulty lies in setting the cut-off threshold to consider the patient to be at increased risk to perform cfDNA test, since, depending on it, both the detection rate and the number of patients to be included in the program vary, and therefore the costs are also different. Gil et al [9] reported detection rates depending on the cut-off chosen for contingent screening: to achieve 100% detection of T21s, the cut-off point should be higher than 1:3,500.…”

Section: Discussionmentioning

confidence: 99%

“…This is the main reason why it has not been widely implemented to be used as universal first-trimester screening in national health programs, as this strategy has proven not to be cost effective [4]. In contrast, several studies have shown that contingent screening, i.e., the implementation of combined screening with cfDNA testing in at-risk populations, is a cost-effective strategy, and in fact, this is the trend that major health systems are focusing on [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Contingent cfDNA Screening Implementation: Increasing Diagnostic Accuracy and Reducing Invasive Testing – 6 Years’ Results in a Single Center

et al. 2022

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Objectives: In 2018, a contingent screening program was implemented in the community of Castilla y Leon (Spain). This study aimed to compare the results achieved in the University Hospital of Salamanca during the three years of contingent screening (2018-2020) with those of the previous three years (2015-2017) to assess the modification in the rate of trisomies detection and the number of invasive tests. Methods: A total of 9903 singleton pregnancies without malformations nor nuchal translucency >p99 were included. 5165 patients underwent combined screening and 4738 had contingent screening based on the combined test risk. In the combined test group, women were offered an invasive test if the risk was ≥1:270 whilst risks under 1:270 were considered low risks, and no further testing was offered. In the contingent screening group, invasive testing was offered if the risk was ≥1:100 (≥1:50 from 2020 onwards) whilst cfDNA was offered if the combined test risk was between 1:100 to 1:1000 (1:50-1:1000 from 2020 onwards). When risk was <1:1000, no further testing was offered. Results: There were 30 cases of trisomy 21 throughout the 6 years of study. 4 cases had risks <1:270 and were diagnosed by cfDNA. Risk >1:1000 threshold for contingent test detected 100% T21. There were no false-negative results. "No-call" cfDNA results were minimized by repeating blood collection two weeks later, as fetal fraction was doubled. Invasive testing had a drop rate of 84% after contingent screening implementation. Discussion: The implementation of population-based contingent screening significantly reduces the number of invasive tests without lowering diagnostic accuracy. To achieve the maximum efficiency of the program, it is important to know the best cut-offs according to the population where the program is to be implemented. The number of uninformative results due to low fetal fraction (FF) can be reduced by repeating the test 2 weeks after the initial extraction: this increases the FF to twice the initial one, achieving informative results and avoiding unnecessary invasive tests.

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“…In addition, several articles about prenatal testing published over the last few years from China, the UK, Belgium, the US, Thailand, and Canada have included cost/benefit analysis as a justification for aneuploidy screening in their analyses and/or discussions [32][33][34][35][36][37][38].…”

Section: Preventing Genetic Disease: a Public Health Perspectivementioning

confidence: 99%

Prenatal Testing – What Is It Good For? A Review and Critique

Resta¹

2021

obm genet

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The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease through selective abortion, allowing parents to avoid raising a child with disabilities, preventing the suffering associated with chromosomal and genetic disorders, emotional reassurance about the health of the baby, and medical and emotional preparation for the birth of a baby with a disability. Each of these goals has problematic aspects, as do some of the criticisms of these goals. The most striking shortcoming of the justifications for prenatal testing is a dearth of research about potential medical, psychological, or adaptational benefits of prenatal testing, especially for aneuploidy, for babies and families, beyond the option of pregnancy termination.

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Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis

Cited by 21 publications

References 39 publications

Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome

Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome

Contingent cfDNA Screening Implementation: Increasing Diagnostic Accuracy and Reducing Invasive Testing – 6 Years’ Results in a Single Center

Prenatal Testing – What Is It Good For? A Review and Critique

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