Media ReleaseFrom: Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG)
Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal blood to screen for Down syndrome (and other fetal aneuploidy) in pregnancy has been available in Australia since 2012. NIPT can detect more cases of Down syndrome and requires fewer invasive diagnostic tests than the currently funded prenatal screening tests (either Combined first trimester screening (cFTS) or maternal serum screening (MSS)). NIPT is currently only available to those who can afford to pay for the test, with no public or private health insurance funding available at this time.
Many peak international professional organisations have endorsed NIPT as a screening test for fetal aneuploidy in both high probability pregnancies and in the general population. Several economic evaluation studies on NIPT have shown that publicly funded NIPT can be cost effective and justify a publically funded screening program. Among the benefits are improved accuracy of Down syndrome screening, providing information to expectant parents, and a substantial reduction in the number of invasive diagnostic procedures such as amniocentesis and CVS. As invasive diagnostic procedures are associated with a small risk of miscarriage, avoiding these procedures will reduce the number of procedure related miscarriages. Recent research has shown that in Australia, women from the most socio-economically advantaged regions are more likely to access NIPT than those from the most disadvantaged regions. As a result, women from disadvantaged areas may be more likely to have invasive diagnostic tests and, therefore have a higher risk of miscarriage.
Given the benefits of NIPT and the evidence that there is already socioeconomic disparity in the use of NIPT in Australia, it is clearly time to implement public funding for NIPT. The question is: what will a publicly funded screening model for NIPT look like? In Australia, a submission for public funding of NIPT has been proposed to the Australian Medical Services Advisory Committee. The submission suggests two potential funding models, one in which all pregnant women (universal screening) would be eligible for subsidised NIPT, and an alternative screening model (contingent), in which only woman with pregnancies at highest chance of Down syndrome, as identified through currently funded screening tests (CFTS or MSS) would be eligible for subsidised NIPT. Both Australian and international economic evaluations have recommended the adoption of NIPT as a contingent screen, as the cost of universal screening may be prohibitive.
Internationally, there has been a move towards public funding of contingent screening with NIPT. In 2015, Switzerland became the first national health system to fund contingent NIPT screening for fetal Down syndrome. Large evaluation trials to assess the potential for public health system support of NIPT, have been or are currently being conducted in the Netherlands, United Kingdom and Canada. In the UK, the National Health Service accepted a submission to fund NIPT based on the results of the trial with a plan to begin screening in 2018. Wales has been the first of the UK nations to implement the program, with contingent screening introduced in April this year. In Germany, authorities will make a decision regarding public funding of NIPT for fetal trisomy in August 2019 following evaluation of the evidence and consultation with stakeholders and industry professionals.