title: Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis.
abstract: OBJECTIVE
  This study aimed to determine the principal factors contributing to the cost of avoiding a birth with Down syndrome by using cell-free DNA (cfDNA) to replace conventional screening.
  
  
  METHODS
  A range of unit costs were assigned to each item in the screening process. Detection rates were estimated by meta-analysis and modeling. The marginal cost associated with the detection of additional cases using cfDNA was estimated from the difference in average costs divided by the difference in detection.
  
  
  RESULTS
  The main factor was the unit cost of cfDNA testing. For example, replacing a combined test costing $150 with 3% false-positive rate and invasive testing at $1000, by cfDNA tests at $2000, $1500, $1000, and $500, the marginal cost is $8.0, $5.8, $3.6, and $1.4m, respectively. Costs were lower when replacing a quadruple test and higher for a 5% false-positive rate, but the relative importance of cfDNA unit cost was unchanged. A contingent policy whereby 10% to 20% women were selected for cfDNA testing by conventional screening was considerably more cost-efficient. Costs were sensitive to cfDNA uptake.
  
  
  CONCLUSIONS
  Universal cfDNA screening for Down syndrome will only become affordable by public health purchasers if costs fall substantially. Until this happens, the contingent use of cfDNA is recommended.
authors.affiliation: Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. hsc2121@columbia.edu
authors.forename: Howard
authors.initials: H
authors.lastname: Cuckle
authors.forename: Peter
authors.initials: P
authors.lastname: Benn
authors.forename: Eugene
authors.initials: E
authors.lastname: Pergament
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000191:economics; D015193:Chorionic Villi Sampling / Q000191:economics; D003362:Cost-Benefit Analysis; D003365:Costs and Cost Analysis; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005189:False Positive Reactions; D005260:Female; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006801:Humans; D007621:Karyotyping / Q000191:economics; D008423:Maternal Age; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000191:economics* / Q000379:methods; D016216:Ultrasonography, Prenatal / Q000191:economics
chemical_list: D004247:DNA