Antenatal Screening for Down Syndrome: The Impact of NIPT


Noninvasive prenatal testing (NIPT) is one of the most significant recent technological developments in prenatal testing for Down syndrome. It offers pregnant women an early, safe, highly accurate screening test for Down syndrome. To support informed choice, clinicians must be clear about the limitations of NIPT and that it may not always be the best test for all women in all circumstances. The implementation of NIPT has sparked a debate around the routinisation of a near‐diagnostic test and its potential negative impact on people with Down syndrome and their families. Information that gives a balanced and accurate picture of lives of people with Down syndrome and their families is essential to support decision‐making, as are well‐informed health professionals. The degree to which NIPT will reduce the population of people with Down syndrome and impact on their quality of life is not yet known but must be monitored.

Key Concepts

  • Noninvasive prenatal testing (NIPT) for Down syndrome (trisomy 21) using cell‐free DNA from the placenta in maternal blood has rapidly become available in many parts of the world.
  • NIPT can be carried out reliably from around 9 weeks gestation, carries no risk of miscarriage, has a higher detection rate and lower false positive and negatives rates than existing screening tests but is not yet diagnostic.
  • NIPT can be used as a first‐stage screening test to all pregnant women or as a second‐stage test for women identified as already having a higher chance of an affected pregnancy via other screening tests or maternal age. NIPT is more accurate for women already identified as having a higher chance of an affected pregnancy.
  • Research with pregnant women shows that NIPT is generally viewed positively as an advancement in prenatal care, particularly if offered as a first‐stage screening test.
  • The limitations of the new screening test are less well understood than the benefits, which may impact on the ability of women to make informed choices. Some research suggests that women and health professionals may not consider the decision‐making process for NIPT as important as for tests associated with miscarriage.
  • There are fears, highlighted by campaign groups that the widespread introduction of NIPT will lead to increased terminations and the significant reduction in the number of people with Down syndrome in society.
  • Early evidence suggests that NIPT may not have as great an impact as anticipated on termination rates for Down syndrome as some anticipated in the United Kingdom and the United States, but in some other countries numbers of terminations for Down syndrome have significantly increased. It is as yet too early to ascertain what the impact of NIPT will be in this respect.
  • Efforts to improve informed choice for prenatal screening via information and training for health professionals may be undermined by the lack of high‐quality services for children and adults with Down syndrome, as some women perceive that continuing an affected pregnancy is not a viable option.

Keywords: Down syndrome; noninvasive prenatal testing; informed choice; informed consent; informed decision‐making; prenatal screening


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Bryant, Louise D(Nov 2019) Antenatal Screening for Down Syndrome: The Impact of NIPT. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0028658]