Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy

Abstract

Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing. Nevertheless, professional societies currently recommend it as an advanced screening test due to the low false positive rate (FPR). Despite the practical and psychological benefits, a number of concerns have been raised which warrant attention. These include the potential for routinisation of testing and subsequent impact on informed decision-making, an “easy” blood test inadvertently contributing to women feeling pressured to take the test, fears NIPT will lead to less tolerance and support for those living with Down syndrome and the heightened expectation of having “perfect babies”. These issues can be addressed to some extent through clinician education, patient information and establishing national and international consensus in the development of comprehensive and regularly updated guidelines. As the number of conditions we are able to test for non-invasively expands it will be increasingly important to ensure pre-test counselling can be delivered effectively supported by knowledgeable healthcare professionals.

Keywords:

• Aneuploidy
• cell-free foetal DNA
• clinical
• Down syndrome
• ethical
• Non-invasive prenatal testing
• social

Disclosure statement

The authors report no conflict of interest

Current knowledge on the subject

• Non-invasive prenatal testing has advanced rapidly since the identification of cell free DNA in maternal plasma in 1997.

• It is now possible to detect Down syndrome and other aneuplodies with high accuracy and a low false positive rate.

• Nevertheless, NIPT has to be considered an advanced screening test because of the risk of discordant results by detection of confimed placental mosaicism.

What this study adds

• This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary yet potentially disruptive technology.

• Stakeholders are overwhelmingly positive about a safe, early and highly accurate test but implementational and ethical concerns exist.

• Many of these can be addressed through clinician education, patient information and establishing national and international guidelines.