The price of abandoning diagnostic testing for cell free fetal DNA screening

Evans, Mark I.; Evans, Slayton A.; Bennett, Terri‐Ann; Wapner, Ronald J.

doi:10.1002/pd.5405

Cited by 17 publications

(24 citation statements)

References 8 publications

(8 reference statements)

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“…Although the associated publications had been integrated to determine the parameters, with further analysis through sensitivity analysis, the conclusion could be augured on the actual costs, the demographics of the population, the degree of utilization, or all other real-life factors. Second, the value of primary NIPT should extend to other genetic anomalies including the copy number variations 14,45 . At present,…”

Section: Discussionmentioning

confidence: 99%

A Cost-Effectiveness Analysis of Screening Strategies involving Noninvasive Prenatal Testing for Trisomy 21

Wang

Liu

Yang

et al. 2020

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In the trends of increasing advanced maternal age (AMA) and decreasing cost of Noninvasive Prenatal Testing (NIPT), we investigated the benefits and cost effectiveness of NIPT as primary or contingent strategies for trisomy 21 (T21). A theoretical model involving 1,000,000 single pregnancies was established. We presented five screening scenarios, primary NIPT (Strategy 1), contingent NIPT after traditional triple serum screening higher than 1/300 or 1/1000 (Strategy 2-1 or Strategy 2-2) and age-based (Strategy 3). Strategy 3 was stratified, in which 1) for advanced maternal age (AMA) of 40 and more, prenatal diagnosis was offered, 2) for AMA of 35 to 39, NIPT was introduced, 3) if younger than 35, contingent strategy with screening risk higher than 1:300 (Strategy 3-1) or 1:1000 (Strategy 3-2) will be offered NIPT. Parameters were referred to publications or on-site verification. The primary outcome was incremental cost analysis for each strategy on baseline and alterative assumptions, which take aging society, reducing cost of NIPT and compliance into consideration. The second outcomes were total cost, cost-effect and cost-benefit analysis. If the incremental cost was less than 0.215 million US$, which was cost for raising one T21 child, or the benefit-to-cost ratio over 1, then the strategy was defined as “cost-effective”. The anticipated prenatal diagnosis was significantly reduced in Strategy 1 and 2, most notably in Strategy 2-1. For the incremental costs, strategy 2-1 was set as baseline. All other strategy costed more than raising one T21 except 3-1. In sensitivity analysis, strategy 1 costed the least when NIPT was lower than 47 US$. If NIPT less than 131 US$, the incremental cost of any strategy was less than 0.215 million US$. When the proportion of AMA accounted for more than 15% and 20% of population, incremental costs of strategy 3-1 and 3-2 were cost effective. In conclusion, contingent NIPT after traditional triple serum screening (risk higher than 1/300) was optimal in total cost (130 million US$), cost-effect (33.4 thousand US$) and cost-benefit (ratio=4.90) analysis of the model. Age-based strategy was optimal as AMA proportion and NIPT acceptance increased. The primary NIPT was most effective for certain price.

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Section: Discussionmentioning

confidence: 99%

A Cost-Effectiveness Analysis of Screening Strategies involving Noninvasive Prenatal Testing for Trisomy 21

Wang

Liu

Yang

et al. 2020

Preprint

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“…The incidence of abnormal CNVs is actually greater than the standard aneuploidies. Particularly for younger women, the detection of abnormal CNVs can be 10 times the expected yield of NIPS . Eventually, with deeper next generation sequencing and whole exome sequencing, noninvasive methods may approximate the diagnostic capabilities of DP and aCGH .…”

Section: Discussionmentioning

confidence: 99%

“…Eventually, with deeper next generation sequencing and whole exome sequencing, noninvasive methods may approximate the diagnostic capabilities of DP and aCGH . Until that time, however, literally tens of thousands of aCNVs are not being detected because of reliance upon the screening practices of NIPS today …”

Section: Discussionmentioning

confidence: 99%

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The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening

et al. 2018

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Noninvasive prenatal screening has significantly changed the practice of prenatal screening. However, while increasing the detection of Down syndrome, the concomitant decrease in DP and lack of aCGH results in missing many more abnormalities than the increase in Down syndrome and complications of DP combined. From a public health perspective, such represents a missed opportunity for overall health care delivery.

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“…We read with great interest the commentary by Evans et al, 1 which offers economic modeling for varying prenatal screening and diagnostic tests. The authors use a managed care cost of $1 million for each child with Down syndrome, an estimation they say that "has been well vetted."…”

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confidence: 99%

Comment on “The price of abandoning diagnostics testing for cell‐free fetal DNA screening”

et al. 2019

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The price of abandoning diagnostic testing for cell free fetal DNA screening

Cited by 17 publications

References 8 publications

A Cost-Effectiveness Analysis of Screening Strategies involving Noninvasive Prenatal Testing for Trisomy 21

A Cost-Effectiveness Analysis of Screening Strategies involving Noninvasive Prenatal Testing for Trisomy 21

The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening

Comment on “The price of abandoning diagnostics testing for cell‐free fetal DNA screening”

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