Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances

Alison McLean and Kathy Wu
Med J Aust 2021; 215 (8): . || doi: 10.5694/mja2.51277
Published online: 18 October 2021

To the Editor: The scope of genetic testing has advanced exponentially in the past 5–10 years and conversations between patients and clinicians are becoming more nuanced. This highlights the value of genetic professionals who are skilled at ensuring patients’ understanding of genetic testing to satisfy the legal requirements for consent.1,2 Other complexities in the setting of prenatal testing include finding of variants of uncertain significance, variable penetrance or expressivity associated with most genetic conditions, and potential future treatments for adult‐onset conditions uncovered by testing.

  • St Vincent’s Health Australia, Sydney, NSW


Competing interests:

No relevant disclosures.

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  • 2. Stewart C, Kerridge I, Parker M. The Australian medico‐legal handbook, 1st ed. Sydney: Elsevier, 2008.
  • 3. Thomas J, Harraway J, Kirchhoffer D. Non‐Invasive prenatal testing: clinical utility and ethical concerns about recent advances. Med J Aust 2021; 214: 168–170.‐invasive‐prenatal‐testing‐clinical‐utility‐and‐ethical‐concerns‐about‐recent
  • 4. Adler H. The sociophysiology of caring in the doctor–patient relationship. J Gen Intern Med 2002; 17: 883–890.
  • 5. Kater‐Kuipers A, de Beaufort I, Galjaard R, Bunnik E. Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT). Bioethics 2020; 34: 671–678.


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