title: Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis.
abstract: OBJECTIVE
  To estimate the cost-effectiveness of fetal aneuploidy screening in the general pregnancy population using non-invasive prenatal testing (NIPT) as compared to first trimester combined screening (FTS) with serum markers and NT ultrasound.
  
  
  METHODS
  Using a decision-analytic model, we estimated the number of fetal T21, T18, and T13 cases identified prenatally, the number of invasive procedures performed, corresponding normal fetus losses, and costs of screening using FTS or NIPT with cell-free DNA (cfDNA). Modeling was based on a 4 million pregnant women cohort, which represents annual births in the U.S.
  
  
  RESULTS
  For the general pregnancy population, NIPT identified 15% more trisomy cases, reduced invasive procedures by 88%, and reduced iatrogenic fetal loss by 94% as compared to FTS. The cost per trisomy case identified with FTS was $497,909. At a NIPT unit, cost of $453 and below, there were cost savings as compared to FTS. Accounting for additional trisomy cases identified by NIPT, a NIPT unit cost of $665 provided the same per trisomy cost as that of FTS.
  
  
  CONCLUSIONS
  NIPT in the general pregnancy population leads to more prenatal identification of fetal trisomy cases as compared to FTS and is more economical at a NIPT unit cost of $453.
authors.affiliation: a Obstetrics and Gynecology of Atlanta , Atlanta , GA , USA .
authors.forename: Genevieve
authors.initials: G
authors.lastname: Fairbrother
authors.affiliation: b Ob/Gyn Specialists of the Palm Beaches, P.A. , Palm Beach Gardens , FL , USA , and.
authors.forename: John
authors.initials: J
authors.lastname: Burigo
authors.affiliation: a Obstetrics and Gynecology of Atlanta , Atlanta , GA , USA .
authors.forename: Thomas
authors.initials: T
authors.lastname: Sharon
authors.affiliation: c Ariosa Diagnostics, Inc. , San Jose , CA , USA.
authors.forename: Ken
authors.initials: K
authors.lastname: Song
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002474:Cell-Free System / Q000737:chemistry; D003362:Cost-Benefit Analysis; D004247:DNA / Q000032:analysis*; D005189:False Positive Reactions; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000191:economics* / Q000379:methods*; D014314:Trisomy / Q000175:diagnosis
chemical_list: D004247:DNA
keywords: Cell-free DNA; Down syndrome; cost-effectiveness; non-invasive prenatal testing; prenatal screening