Issue 27 / 17 July 2015

THE development and uptake of non-invasive prenatal testing is moving so fast that essential ethics discussions are lagging behind, a leading maternal–fetal expert has warned.
Dr Stephen Cole, specialist in maternal–fetal medicine at the Melbourne Obstetric Group, told MJA InSight that while the advances in non-invasive prenatal testing (NIPT) were revolutionary, the new technology was “a double-edged sword” for patients.
“With the benefit of increased knowledge comes the increased burden of responsibility for decision making”, he said.
Dr Cole was commenting on an editorial published this week in the MJA which describes the evolution of NIPT as representing a new era in reproductive medicine. (1)
The authors, Professor Jan Dickinson, an obstetrician and subspecialist in maternal–fetal medicine at the University of WA, and Professor Caroline de Costa, an obstetrician and gynaecologist at the James Cook University School of Medicine, wrote that NIPT was now the most sensitive and specific screening test for the common trisomies, with detection rates greater than 99% for trisomy 21 and false-positive rates of less than 0.5%.
While the test had initially been used in high-risk pregnancies for aneuploidy, recent data indicated NIPT was also a robust screening test in lower-risk pregnancies.
The authors said that the final goal of NIPT was the sequencing of the entire fetal genome on a commercial basis, with the prospect of a personalised prenatal diagnosis being made available to all women, or at least to those who could afford the test.
However, with the broader introduction of NIPT, the ethical issues surrounding the technology would come sharply into focus, the authors wrote.
Dr Cole said while the ethical problems of NIPT were not unique to this test, they could become more pronounced.
“We have for a long time struggled with balancing a perceived desire in the community for accurate prenatal diagnosis of Down syndrome against respect and dignity for individuals and families living with Down syndrome”, he said.
“NIPT isn’t the beginning of this conflict, but it takes things a step further, due to its enhanced diagnostic accuracy.”
Editorial coauthor Professor de Costa told MJA InSight that a key ethical concern surrounding NIPT was the ability to determine fetal sex in the first trimester, which would make it easier for couples who strongly desire a child of a particular sex to terminate the pregnancy.
Professor de Costa said it was therefore important to encourage greater public awareness of the potential consequences of NIPT, because “in the foreseeable future there is likely to be more and more information available about the fetal genome, and that information may be available earlier in the pregnancy”.
She said it was crucial for doctors to make it very clear to patients that NIPT was “not a guarantee for a perfect baby”.
Dr Stefan Kane, fellow in maternal medicine at The Royal Women’s Hospital, Melbourne, agreed, telling MJA InSight the capacity of NIPT to test a growing number of chromosomes would increase the detection of rare and unstudied abnormalities, which could lead to a rise in pregnancy terminations.
Professor Peter O’Leary, chair of human research ethics at Curtin University, said the prevalence of these issues was why he cautioned against the “enthusiastic over-promotion” of NIPT as routine practice.
He said the technology was opening up a bigger ethical debate about the practice of eugenics.
“Hopefully, we are not trying [to use NIPT] to create all our babies to be ‘abnormality-free’ — whatever that implies”, Professor O’Leary told MJA InSight.
Professor de Costa said that to help ensure the appropriate provision of NIPT as it became more widely accessed, national guidelines and standards must be developed.
“At the moment, it appears to be largely specialist obstetricians who are ordering NIPT for their patients. But the technology is constantly evolving, and GPs need to be kept up to date by the relevant colleges, journals, medical defence unions and specialist bodies”, Professor de Costa said.
Dr Cole said that any increase in the availability of NIPT must be matched with the provision of pre- and post-test genetic counselling services.
“This includes a discussion around the potential for false-positive results, as well as a comprehensive explanation about the condition diagnosed, the spectrum of outcomes and the impacts on quality of life that may exist.”
Dr Kane was concerned that as NIPT became cheaper and more freely available to all women, the thoroughness of of these discussions could be diminished or even eliminated.
He said GPs currently provided the bulk of pregnancy care but if women were able to have NIPT without a referral, they could bypass their GP and miss out on receiving important information and guidance.
(Photo: Ian Hooton / Science Photo Library)


What is the main ethical concern caused by the increasing availability of non-invasive prenatal testing?
  • Pressure for “perfect” babies (43%, 47 Votes)
  • Gender selection (24%, 26 Votes)
  • Too complex to choose (21%, 23 Votes)
  • Test affordability (12%, 13 Votes)

Total Voters: 109

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One thought on “Prenatal tests challenge ethics

  1. q402681@amamember says:

    Whilst all of the above ethical discussion is true with respect to the baby, there was no mention in the article that I could see of ”íncidentalomas” discovered in the mother at time of her blood testing for foetal abnormalities. Articles are already appearing reporting at this phenomenon. eg Aneuploidy associated with malignant or premalignanat or late onset conditions. The implementation of this highly sensitive and highly specific screening technology needs urgent attention by cross-society ethicists and by our Federal legislators given the moral and ethical relativism and multicultural fracturing that now seems part and parcel of 21st century Australia.

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