A decade of non-invasive prenatal screening in Australia: National impact on prenatal screening and diagnostic testing

Abstract

Prenatal screening for aneuploidy has undergone immense changes over the past two decades. In 2013 cell-free DNA-based non-invasive prenatal testing (NIPT) became a new self-funded option primarily for Down syndrome screening, but also other aneuploidies and genetic conditions. The numbers of Medicare item claims for prenatal diagnostic procedures have halved since the introduction of NIPT, while billings for serum screening fell by 40% over the same period, on a background of steady births. Australia is now observing historically low rates of prenatal diagnostic testing. These data provide an informative snapshot of historic changes in prenatal screening and diagnosis, as our sector prepares for the impending impacts of other advances in genomics on maternity care. They also highlight the need to address equity and quality issues that arise when consumers must bear the full costs of improved genomic tests in the absence of Medicare funding.

Keywords: Down syndrome; aneuploidy; obstetrics; pregnancy; prenatal diagnosis; prenatal screening; serum screening.

Figure 1

(A) National annual Medicare Benefits Schedule billings for serum screening, the 11–13 week nuchal translucency obstetric ultrasound, and the 12–16 week obstetric ultrasound (2003–2021). NT, nuchal translucency; w, week. (B) National annual Medicare Benefits Schedule billings for amniocentesis and chorionic villus sampling (1994–2021). Amnio, amniocentesis; CVS, chorionic villus sampling.

Figure 2

Annual births in Australia (2003–2000).