title: An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.
abstract: OBJECTIVE
  Analyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT) in the general pregnancy population.
  
  
  METHODS
  Using decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA) analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, trisomy 21, trisomy 18, trisomy 13, and monosomy X, were estimated using published data and modeling of both first- and second trimester screening. Costs were assigned for each prenatal test component and for an affected birth. The overall cost to the healthcare system considered screening costs, the number of aneuploid cases detected, invasive procedures performed, procedure-related euploid losses, and affected pregnancies averted. Sensitivity analyses evaluated the effect of variation in parameters. Costs were reported in 2014 US Dollars.
  
  
  RESULTS
  Replacing conventional screening with NIPT would reduce healthcare costs if it can be provided for $744 or less in the general pregnancy population. The most influential variables were timing of screening entry, screening costs, and pregnancy termination rates. Of the 13,176 affected pregnancies undergoing screening, NIPT detected 96.5% (12,717/13,176) of cases, compared with 85.9% (11,314/13,176) by conventional approaches. NIPT reduced invasive procedures by 60.0%, with NIPT and conventional methods resulting in 24,596 and 61,430 invasive procedures, respectively. The number of procedure-related euploid fetal losses was reduced by 73.5% (194/264) in the general screening population.
  
  
  CONCLUSIONS
  Based on our analysis, universal application of NIPT would increase fetal aneuploidy detection rates and can be economically justified. Offering this testing to all pregnant women is associated with substantial prenatal healthcare benefits.
authors.affiliation: Division of Human Genetics, Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT, United States of America.
authors.forename: Peter
authors.initials: P
authors.lastname: Benn
authors.affiliation: Illumina Inc., San Francisco, CA, United States of America.
authors.forename: Kirsten J
authors.initials: KJ
authors.lastname: Curnow
authors.affiliation: Natera Inc., San Carlos, CA, United States of America.
authors.forename: Steven
authors.initials: S
authors.lastname: Chapman
authors.affiliation: Cedar Associates, Menlo Park, CA, United States of America.
authors.forename: Steven N
authors.initials: SN
authors.lastname: Michalopoulos
authors.affiliation: Cedar Associates, Menlo Park, CA, United States of America; Stanford University, Stanford, CA, United States of America.
authors.forename: John
authors.initials: J
authors.lastname: Hornberger
authors.affiliation: Natera Inc., San Carlos, CA, United States of America.
authors.forename: Matthew
authors.initials: M
authors.lastname: Rabinowitz
mesh_terms: D000782:Aneuploidy; D002474:Cell-Free System; D004247:DNA / Q000032:analysis*; D005260:Female; D006801:Humans; D018803:Models, Economic; D011247:Pregnancy; D011262:Pregnancy Trimester, Second / Q000235:genetics; D011296:Prenatal Diagnosis / Q000191:economics* / Q000379:methods*; D014481:United States
chemical_list: D004247:DNA