Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis

References

• Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 2009;360:2556–62
   PubMed Web of Science ®Google Scholar
• ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obs Gynecol 2007;109:217–27
   PubMedGoogle Scholar
• Kagan KO, Wright D, Valencia C, et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008;23:1968–75
   PubMed Web of Science ®Google Scholar
• Evans MI, Krantz DA, Hallahan TW, Sherwin J. Impact of nuchal translucency credentialing by the FMF, the NTQR or both on screening distributions and performance. Ultrasound Obs Gynecol 2012;39:181–4
   PubMed Web of Science ®Google Scholar
• Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obs Gynecol 2012;207:137.e1–8
   PubMed Web of Science ®Google Scholar
• Gil MM, Akolekar R, Quezada MS, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014;35:156–73
   PubMed Web of Science ®Google Scholar
• Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obs Gynecol 2012;207:374.e1–6
   PubMed Web of Science ®Google Scholar
• Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589--97
   Google Scholar
• Song K, Musci TJ, Caughey AB. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J Matern Fetal Neonatal Med 2013;7058:1–6
   Google Scholar
• Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obs Gynecol 2012;120:1532–4
   PubMed Web of Science ®Google Scholar
• Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15:395–8
   PubMed Web of Science ®Google Scholar
• Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015. [Epub ahead of print]. doi: 10.1038/ejhg.2015.57
   Web of Science ®Google Scholar
• Larion S, Warsof SL, Romary L, et al. Uptake of noninvasive prenatal testing at a large academic referral center. Am J Obs Gynecol 2014;211:651.e1–7
   PubMed Web of Science ®Google Scholar
• Hill M, Fisher J, Chitty LS, Morris S. Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med 2012;14:905–13
   PubMed Web of Science ®Google Scholar
• Evans MI, Sonek JD, Hallahan TW, Krantz DA. Cell-free fetal DNA screening in the USA: a cost analysis of screening strategies. Ultrasound Obs Gynecol 2015;45:74–83
   PubMed Web of Science ®Google Scholar
• Walker BS, Jackson BR, LaGrave D, et al. A cost-effectiveness analysis of cell free DNA as a replacement for serum screening for Down syndrome. Prenat Diagn 2014 . [Epub ahead of print]. doi: 10.1002/pd.4511
   Web of Science ®Google Scholar
• Cuckle H, Benn P, Pergament E. Maternal cfDNA screening for Down syndrome – a cost sensitivity analysis. Prenat Diagn 2013;33:636–42
   PubMed Web of Science ®Google Scholar
• Cuckle HS, Wald NJ, Thompson SG. Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. Br J Obs Gynaecol 1987;94:387–402
   PubMedGoogle Scholar
• Snijders RJ, Sebire NJ, Souka A, et al. Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation. Ultrasound Obs Gynecol 1995;6:250–5
   PubMed Web of Science ®Google Scholar
• Natoli JL, Ackerman DL, McDermott S, Edwards JG. Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011). Prenat Diagn 2012;32:142–53
   PubMed Web of Science ®Google Scholar
• Shaffer BL, Caughey AB, Norton ME. Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenat Diagn 2006;26:667–71
   PubMed Web of Science ®Google Scholar
• Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obs Gynecol 2006;108:612–16
   PubMed Web of Science ®Google Scholar
• Centers for Disease Control and Prevention (CDC). Economic costs of birth defects and cerebral palsy–United States, 1992. MMWR Morb Mortal Wkly Rep 1995;44:694–9
   PubMedGoogle Scholar