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

2020 ◽  
Author(s):  
Shuxian Wang ◽  
Kejun Liu ◽  
Huixia Yang ◽  
Jingmei Ma

Abstract 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.

2014 ◽  
Vol 34 (11) ◽  
pp. 1055-1060 ◽  
Author(s):  
Nobuhiro Suzumori ◽  
Takeshi Ebara ◽  
Kyoko Kumagai ◽  
Shinobu Goto ◽  
Yasuyuki Yamada ◽  
...  

BMJ Open ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. e046582
Author(s):  
Wenru Shang ◽  
Yang Wan ◽  
Jianan Chen ◽  
Yanqiu Du ◽  
Jiayan Huang

ObjectiveThis study aimed to compare the health economic value of a non-invasive prenatal testing (NIPT) strategy against a second-trimester triple screening (STS) strategy for the detection of Down syndrome based on real-world data from China.DesignA decision-analytical model was developed to compare the cost-effectiveness of five strategies from a societal perspective. Cost and probability input data were obtained from the real-world surveys and published sources.SettingChina.ParticipantsWomen with a singleton pregnancy.InterventionsThe five strategies for screening were: (A) maternal age with STS (no NIPT); (B) STS plus NIPT screening; (C) age-STS plus NIPT screening (the currently referral strategy in China); (D) maternal age with NIPT screening and (E) universal NIPT screening.Main outcome measuresIncremental cost-effectiveness ratios (ICERs) per additional Down syndrome case terminated, univariate and probabilistic sensitivity analysis and cost-effectiveness acceptability curves were obtained.ResultsStrategy A detected the least number of Down syndrome cases. Compared with the cheapest Strategy B, Strategy D had the lowest ICER (incremental cost, US$98 944.85 per additional Down syndrome case detected). Strategy D had the highest probability of being cost-effective at the willingness-to-pay level between US$110 000.00 and US$535 000.00 per additional Down syndrome case averted. Strategy E would not be cost-effective unless the unit cost of the NIPT could be decreased to US$60.50.ConclusionIntroducing NIPT screening strategies was beneficial over the use of STS strategy alone. Evaluating maternal age in combination with the NIPT screening strategy performs better than China’s currently referral strategy in terms of cost-effectiveness and safety. Lowering the price of NIPT and optimising payment methods are effective measures to promote universal NIPT strategies in China.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11, 99.96, 90.98, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100, 99.94, 67.92, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100, 99.96, 27.78, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index = 37). Conclusion It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.


2016 ◽  
Vol 62 (6) ◽  
pp. 848-855 ◽  
Author(s):  
George Koumbaris ◽  
Elena Kypri ◽  
Kyriakos Tsangaras ◽  
Achilleas Achilleos ◽  
Petros Mina ◽  
...  

Abstract BACKGROUND There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT). METHODS We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genomic regions of interest. An advanced fetal fraction estimation and aneuploidy determination algorithm was also developed. This assay allowed for accurate counting and assessment of chromosomal regions of interest. The analytical performance of the assay was evaluated in a blind study of 631 samples derived from pregnancies of at least 10 weeks of gestation that had also undergone invasive testing. RESULTS Our blind study exhibited 100% diagnostic sensitivity and specificity and correctly classified 52/52 (95% CI, 93.2%–100%) cases of trisomy 21, 16/16 (95% CI, 79.4%–100%) cases of trisomy 18, 5/5 (95% CI, 47.8%–100%) cases of trisomy 13, and 538/538 (95% CI, 99.3%–100%) normal cases. The test also correctly identified fetal sex in all cases (95% CI, 99.4%–100%). One sample failed prespecified assay quality control criteria, and 19 samples were nonreportable because of low fetal fraction. CONCLUSIONS The extent to which free fetal DNA testing can be applied as a universal screening tool for trisomy 21, 18, and 13 depends mainly on assay accuracy and cost. Cell-free DNA analysis of targeted genomic regions in maternal plasma enables accurate and cost-effective noninvasive fetal aneuploidy detection, which is critical for widespread adoption of NIPT.


1999 ◽  
Vol 8 (4) ◽  
pp. 217-233 ◽  
Author(s):  
Elizabeth R. Drake ◽  
Lori Engler-Todd ◽  
Annette M. O'Connor ◽  
Linda C. Surh ◽  
Alasdair Hunter

2016 ◽  
Vol 18 (1) ◽  
pp. 8-14 ◽  
Author(s):  
Kyoko Murakami ◽  
Sue Turale ◽  
Heather Skirton ◽  
Faye Doris ◽  
Kumiko Tsujino ◽  
...  

2019 ◽  
Author(s):  
Nicolas Chatron ◽  
Laure Raymond ◽  
Caroline Schluth‐Bolard ◽  
Claire Bardel ◽  
Cyril Huissoud ◽  
...  

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