Questioning the Benefits of Routinising NIPT

- By Bel Holmes, PhD (C)

 

Will expectant parents benefit if non-invasive prenatal testing (NIPT) is offered in all pregnancies? 

Photo by mali desha on Unsplash

Non-invasive prenatal testing (NIPT) is a genetic screening test that involves analysing small fragments of DNA derived from the placenta that are found in the blood of pregnant persons. The results provide information as to whether a foetus has a higher chance of being born with Down Syndrome (or the less common Edward's and Patau Syndromes). This testing is becoming increasingly common for all pregnancies and is well on its way to becoming a part of routine prenatal care. This gives rise to some complex ethical concerns. The minimally invasive and increasingly routine nature of the test may affect the way expectant parents make their decision to undergo it. NIPT can amass large amounts of information, and this information has varying degrees of accuracy, which can make test results difficult to interpret to those without professional expertise. Even for highly accurate results, entrenched social views of disability and chromosomal conditions, plus societal pressure (especially on mothers) to ensure optimum foetal health can influence how results are relayed to parents, and affect the trajectory of their pregnancy.

 

In a recent piece in the Sydney Morning Herald, journalist Caroline Zielinski grapples with her experience of undergoing prenatal testing in pregnancy. It was an offhand comment from an obstetrician that her baby was measuring small for 21 weeks (a sign of a possible chromosomal difference) that resulted in an admission to a foetal medicine unit, monitoring and increased testing, including an amniocenteses test. In the end, the tests were all clear. Zielinski claims that if she had her time again, she would not have chosen to undergo this level of testing, because although the result was what she wanted, the anxiety and stress caused by testing may not have been worth the information she gained. This experience - where an initial non-invasive test leads to further testing - will likely become more common as screening tests like NIPT become commonplace in prenatal care. This risks undermining the autonomy of expectant parents, and contributing to a status quo in prenatal care that encourages the use of genetic technology simply because it is available, without due consideration of it's effects. 

  

Further ethical complexity comes about from the private development and marketing of NIPT and other prenatal genetic testing. While undergoing NIPT can certainly serve the interests of some expectant parents, private companies also stand to gain from it's routine use. The marketing website for an Australian NIPT provider recommends the test for ‘anyone wanting the most accurate information on the risk for a chromosome disorder early in their pregnancy’. This arguably frames the choice to undergo NIPT as something a responsible parent would do. Such framing risks implying a judgement about responsibility on those who prefer not to test, one that could erode pregnant persons’ legitimate choice to refuse testing on the grounds that they do not wish to know, or that the results would not affect their choice to carry the foetus to term. We should be wary of how private testing companies market these tests, and in turn how this can contribute to a status quo of using genetic technology in all pregnancies.  

  

In Australia, most people who receive private prenatal care undergo NIPT (it does not currently receive Medicare funding). NIPT is being marketed to doctors and pregnant persons alike as a way of reaching peace of mind and assuring the health of the foetus. In reality, this certainty of foetal health cannot be achieved by NIPT – nor, for that matter, any prenatal test. While tests like NIPT can provide a probability of whether chromosomal difference has been picked up in placental DNA, this does not tell expectant parents anything about the severity of the condition for their foetus, what their future child may be like, and the possibilities for life with a child who has a chromosomal condition. Unfortunately, since genetic difference is so bound up with medicalised notions of health and disease, it means that health care professionals and parents often default to a medicalised (and often negative) view of any genetic difference. Testing for these conditions can contribute to a socio-medical culture that encourages parents to feel negatively about the possibility of life with a child who has one of the conditions screened for.  

  

Prenatal genetic tests like NIPT are becoming an increasingly common feature of modern pregnancy, and there are certainly conditions and circumstances where early detection can be justified.  While I don't recommend against the use of such tests, it is important to encourage reflection on why we test for the conditions we test for, and whether it will always benefit expectant parents to be given the amount and the kind of information NIPT can generate. I suspect it will not, and suggest that if we allow NIPT to become routine in prenatal care, then we need to protect the legitimate choice of parents to use the test in a way that is useful for them, which means ensuring space both for refusal and to limit the scope of the test. 

 

This post was developed by Isabella Holmes from a presentation and panel discussion given at the Australasian Association of Bioethics and Health Law (AABHL) Conference, held virtually in November 2021. I thank the other panellists and conference attendees for their involvement.