Introducing the non-invasive prenatal testing for detection of Down syndrome in China: a cost-effectiveness analysis

Abstract

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.

A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?

“…NGS-NIPT is a very powerful tool for screening fetal aneuploidies with high test accuracy [ 27 – 29 ], the main reason why it has not been widely used as a first-tier screen method is its relatively high price [ 32 – 35 ]. The CS has been proposed and used in some counties for purposes of increasing the positive detection rate and reducing the overall costs involved with the NGS assay.…”

“…Considering the dPCR-NIPT assay has a better sensitivity and specificity, if using it to replace the SBT in the existing CS, the upgraded version would be more effective with a higher positive detection rate and significantly less false positive samples to be resolved by the NGS-NIPT test. A major concern about to use the NGS-NIPT as the first-tier fetal aneuploidy screening test is lack of cost effectiveness due to its relatively higher price at an average of $570 per test with a range of $200-$1,100, while the SBT price is averaged at $53 with a range of $45-$77, depending on the countries [ 31 – 35 ]. If the price can be reduced to an average of $103 with a range of $61-$200 (depending on countries), the NGS-NIPT becomes cost-effective as the first-tier screen test when compared to the existing CS [ 32 – 35 ].…”

“…A major concern about to use the NGS-NIPT as the first-tier fetal aneuploidy screening test is lack of cost effectiveness due to its relatively higher price at an average of $570 per test with a range of $200-$1,100, while the SBT price is averaged at $53 with a range of $45-$77, depending on the countries [ 31 – 35 ]. If the price can be reduced to an average of $103 with a range of $61-$200 (depending on countries), the NGS-NIPT becomes cost-effective as the first-tier screen test when compared to the existing CS [ 32 – 35 ]. We estimate that the costs of the dPCR-NIPT assay is less than $100 and can even be close to the SBT price after the dPCR consumables being in a mass production.…”

“…To effectively balance the benefits and higher cost regarding the NGS-NIPT, many countries select the contingent strategy (CS) that uses the SBT as a primary screen tool and use the NGS-NIPT as a confirmation test for the high risk pregnancies identified by the SBT. The CS showed a better cost-effectiveness when compared to the SBT only strategy and NGS-NIPT as the first-tier test [ 32 – 35 ]. The main advantage of the CS is its ability to remarkably reduce the unnecessary invasive procedures, but its positive detection rate would in principle not be much better than the SBT, since all high risk pregnancies are still determined by the SBT at the forefront of this strategy [ 35 ].…”

“…The CS showed a better cost-effectiveness when compared to the SBT only strategy and NGS-NIPT as the first-tier test [ 32 – 35 ]. The main advantage of the CS is its ability to remarkably reduce the unnecessary invasive procedures, but its positive detection rate would in principle not be much better than the SBT, since all high risk pregnancies are still determined by the SBT at the forefront of this strategy [ 35 ]. However, if the SBT can be replaced by a NADT assay with a higher sensitivity similar to the NGS-NIPT and a lower price close to the SBT, the upgraded CS would currently be a preferred solution to screen all pregnancies.…”