Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing

Int J Mol Sci. 2017 Feb 20;18(2):453. doi: 10.3390/ijms18020453.


The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a paradigm shift in noninvasive prenatal testing (NIPT). Circulating cell-free DNA in maternal plasma has been increasingly recognized as an important proxy to detect fetal abnormalities in a noninvasive manner. A variety of approaches for NIPT using next-generation sequencing have been developed, which have been rapidly transforming clinical practices nowadays. In such approaches, the fetal DNA fraction is a pivotal parameter governing the overall performance and guaranteeing the proper clinical interpretation of testing results. In this review, we describe the current bioinformatics approaches developed for estimating the fetal DNA fraction and discuss their pros and cons.

Keywords: circulating cell-free DNA; fetal DNA fraction; noninvasive prenatal testing.

Publication types

  • Review

MeSH terms

  • Chromosomes, Human, Y / genetics
  • Computational Biology* / methods
  • DNA / blood
  • DNA / genetics*
  • DNA Methylation
  • Female
  • Fetus*
  • Genetic Testing* / methods
  • Genotype
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Molecular Typing
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Prenatal Diagnosis* / methods
  • Sequence Analysis, DNA


  • DNA