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

• Published in: PloS one Vol. 14; no. 12; p. e0225281
• Main Authors: Zhang, Wei, Mohammadi, Tima, Sou, Julie, Anis, Aslam H
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 04.12.2019; Public Library of Science (PLoS)
• Subjects: Adult; Amniocentesis; Analysis; Aneuploidy; Chromosome aberrations; Comparators; Computer Simulation; Cost analysis; Cost benefit analysis; Decision analysis; Deoxyribonucleic acid; Diagnosis; Diagnostic systems; Diagnostic tests; DNA; Down syndrome; Down Syndrome - diagnosis; Down Syndrome - economics; Down's syndrome; Economic aspects; Female; Fetuses; Genetic Testing - economics; Genetic Testing - methods; Health screening; Health surveillance; Hospitals; Humans; Mathematical models; Medical diagnosis; Medical tests; Medicine and Health Sciences; Monte Carlo Method; Monte Carlo methods; Monte Carlo simulation; Parameter uncertainty; People and places; Pregnancy; Pregnant women; Prenatal diagnosis; Prenatal Diagnosis - economics; Prenatal Diagnosis - methods; Probabilistic analysis; Public health; Quality-Adjusted Life Years; Retirement benefits; Screening; Social Sciences; Systematic review; Ultrasonic imaging; Womens health; Canada; British Columbia; Vancouver British Columbia Canada; Asia; United States > US
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0225281

Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide. New non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA in maternal blood can provide benefits due to its higher sensitivity and specificity in comparison to conventional screening tests. This study aimed to assess the cost-effectiveness of using population-level NIPT in fetal aneuploidy screening for DS. We developed a microsimulation decision-analytic model to perform a probabilistic cost-effectiveness analysis (CEA) of prenatal screening and diagnostic strategies for DS. The model followed individual simulated pregnant women through the pregnancy pathway. The comparators were serum-only screening, contingent NIPT (i.e., NIPT as a second-tier screening test) and universal NIPT (i.e., NIPT as a first-tier screening test). To address uncertainty around the model parameters, the expected values of costs and quality-adjusted life-years (QALYs) in the base case and all scenario analyses were obtained through probabilistic analysis from a Monte Carlo simulation. Base case and scenario analyses were conducted by repeating the micro-simulation 1,000 times for a sample of 45,605 pregnant women per the population of British Columbia, Canada (N = 4.8 million). Preliminary results of the sequential CEAs showed that contingent NIPT was a dominant strategy compared to serum-only screening. Compared with contingent NIPT, universal NIPT at the current test price was not cost-effective with an incremental cost-effectiveness ratio over $100,000/QALY. Contingent NIPT also had the lowest cost per DS case detected among these three strategies. Including NIPT in existing prenatal screening for DS is shown to be beneficial over conventional testing. However, at current prices, implementation of NIPT as a second-tier screening test is more cost-effective than deploying it as a universal test.