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

Abstract

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.

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology

“…By removing the need for PCR and NGS, the installation, hands-on time, bioinformatics, and run costs, are automatically significantly lower with the Vanadis system. As has been reported, there is additionally a cost saving for medical systems using this technology over sequencing from a follow-up point of view, due to the lower no-call rate [10].…”

“…Vanadis ® NIPT is an efficient and cost-effective option for prenatal screening. The test can be offered to pregnant women starting from the 10th week of gestation and can be integrated as a first tier choice as prenatal screening analysis, as it is more cost-effective than the NGS-based NIPT [10] and has a higher sensitivity and specificity compared to the conventional biochemical screening [11].…”

Assessment and clinical utility of a non-Next-Generation Sequencing based Non-Invasive Prenatal Testing technology

“…By removing the need for PCR and NGS, the installation, hands-on time, bioinformatics and run costs are automatically significantly lower with the Vanadis system. As has been reported, there is additionally a cost-savings for medical systems using this technology over sequencing from a follow-up point of view due to the lower no call rate[10].…”

Review of Prenatal Aneuploidy Screening Uptake Rate and Trends in Iran, and Developed Countries

“…Since the 1980s, attentions to prenatal screening of Down syndrome (trisomy 21) increased, leading to identification of trisomy 13 and 18, as well as some rare and fatal cases such as triploidy besides it (5). The screening tests in developed countries have become part of routine pregnancy care since the 1990s (6). In Denmark, for example, where screening tests were offered to all pregnant women from 2004-2005, the number of invasive samplings, which was about 70,000 per year between 2000 and 2003, declined to about 35,000 in 2006 (7).…”