Non-invasive prenatal testing: A diagnostic innovation shaped by commercial interests and the regulation conundrum

Soc Sci Med. 2022 Jul:304:113064. doi: 10.1016/j.socscimed.2020.113064. Epub 2020 May 20.


Non-invasive prenatal testing (NIPT) is grounded in the analysis of free circulating fetal DNA (cfDNA) in pregnant women's blood. The rolling out of this screening method was in large part driven by commercial firms, which hoped to reach a huge potential market by offering a test that was expected to be risk-free, reliable, inexpensive, and able to detect a wide range of genetic traits of the future child. To date, most predictions about the scope and uses of NIPT have not materialized: in 2020 NIPT detects only a limited number of genetic anomalies, while results have to be confirmed by amniocentesis. NIPT has become a commercial success. Nevertheless the implementation of NIPT has tended to diverge across different national settings. In countries that already have state-sponsored screening for Down risk, NIPT has been offered by the state health insurance to women defined as "high risk", using a variant of the test that detects only three autosomal aneuploidies: trisomy 21, 13 and 18. These countries effectively regulate the supply of NIPT on grounds of cost-effectiveness and reliability. In countries without state-sponsored screening for Down risk, in contrast, multiple versions of NIPT covering a wider range of birth defects are commonly available on the free market, and purchased by women at low as well as high risk of having an affected child. Market-based healthcare systems tend to present women who can afford to pay for NIPT with a largely unregulated choice of technologies - though reimbursement rules imposed by private insurance providers may serve in effect to regulate use by those consumers who cannot afford to pay for tests from their own pockets. This regulatory divergence is shaped by the presence or absence of prior state-sponsored screening programs for Down risk.

Keywords: Amniocentesis; Circulating free fetal DNA; Down syndrome; Fetus; Genetic testing; Non-invasive prenatal diagnosis; Pregnancy; Selective abortion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Down Syndrome* / diagnosis
  • Down Syndrome* / genetics
  • Female
  • Genetic Testing / methods
  • Humans
  • Pregnancy
  • Prenatal Diagnosis* / methods
  • Reproducibility of Results
  • Trisomy