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

J Matern Fetal Neonatal Med. 2016;29(7):1160-4. doi: 10.3109/14767058.2015.1038703. Epub 2015 May 22.


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.

Keywords: Cell-free DNA; Down syndrome; cost-effectiveness; non-invasive prenatal testing; prenatal screening.

Publication types

  • Evaluation Study

MeSH terms

  • Adult
  • Aneuploidy*
  • Cell-Free System / chemistry
  • Cost-Benefit Analysis*
  • DNA / analysis*
  • False Positive Reactions
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / epidemiology
  • Fetal Diseases / genetics
  • Genetic Testing / economics
  • Genetic Testing / methods
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis / economics*
  • Prenatal Diagnosis / methods*
  • Trisomy / diagnosis


  • DNA