Ten years ago, Western Ultrasound for Women introduced Non-Invasive Prenatal Testing (NIPT) aneuploidy screening for women in WA. This test screened for chromosomal variants T21, T18, and T13 associated with the conditions for Down Syndrome, Edwards Syndrome, and Patau Syndrome.
The advantage of NIPT is that its increased accuracy has reduced the number of women undergoing CVS or amniocentesis for high risk assessments on the NT screening programme or for other reasons.
Prior to the introduction of NIPT, 3.5% – 5% of women were undergoing invasive diagnostic testing. These tests are known to be associated with risks including miscarriage of chromosomally normal fetuses.
Unable to source NIPT in Australia, we initially liaised with Prof Mahesh Choolani in Singapore, who provided excellent scientific clinical and genetic counselling through the I-Gene programme.
As NIPT is not covered by Medicare this was an expensive option. However, NIPT became widely accepted as as an advance in screening and grew more widely available as local pathology providers started to provide screening locally.
In 2021, there are now multiple providers and different screening options for patients.
NIPT in Australia
Various commercial non-invasive prenatal tests (NIPTs) are available in Australia, including Harmony, Generation, and Panorama. These NIPTs offer basic screening (for T21, T18, T13, and sex chromosome anomalies) or more detailed whole genome analysis.
In addition, some NIPTs can also screen for large chromosome deletions and duplications.
It is important to note that NIPT is a screening test and invasive diagnostic procedures are still recommended to confirm high risk NIPT results.
In line with other providers of pregnancy screening with ultrasound, Western Ultrasound for Women will be offering percept NIPT.
percept offers a detailed assessment of all 23 chromosome pairs (the fetal genome) and includes access to genetic counselling services pre- and post-testing. percept is provided by VCGS, a not-for-profit provider of genetics services in Australia.
Other screening options
There are other antenatal screening options to be considered in addition to NIPT.
It is recommended that information about both prenatal screening for chromosome conditions and carrier screening for single gene disorders (CF, FXS, and SMA) is provided to all women planning or currently pregnant.
1 in 20 Australians are carriers of at least one of these conditions. In most cases, couples who have a child with one of these conditions did not have a known family history*.
*(Reference – Archibald, A. D., Smith, M. J., Burgess, T., Scarff, K. L., Elliott, J., Hunt, C. E., … & Amor, D. J. (2018). Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine, 20(5), 513-523.)