Women and couples who are pregnant are offered prenatal screening, which give them information about their pregnancy. There are several screening options available, and the level and accuracy of the information differs with each.
Non‐invasive prenatal testing (NIPT or NIPS) is a highly accurate type of screening test that is used to identify pregnancies that have an increased chance of a chromosome condition.
Victorian Clinical Genetics Services (VCGS) assessed the motivations and experiences of over 200 women who had NIPT in Victoria between 2015 and 2016. The study, led by Hilary Bowman-Smart, was a collaboration between Victorian Clinical Genetic Services (VCGS), Murdoch Children’s Research Institute and the Universities of Melbourne and Oxford in the UK.
The study identified that detecting chromosome conditions and seeking reassurance as the most common reasons women wanted to use NIPT. 95% of women in this study indicated they would probably or definitely undergo NIPT again.
The study also highlighted the importance of making informed decisions about prenatal screening and the results obtained. VCGS offers a pre and early-pregnancy screening clinic for anyone who is considering, or who has had a reproductive screening test through VCGS.
Learn more about NIPT and read the study’s insights in full below.
NIPT in Australia
Non‐invasive prenatal testing (NIPT or NIPS) is a highly accurate screening test that is used to identify pregnancies that have an increased chance of a chromosome condition, such as Down syndrome. NIPT is offered to women and couples by a range of medical professionals, including general practitioners, obstetricians and ultrasound specialists.
NIPT was made available to Australian women in 2012 and has since been widely taken up by pregnant women and couples across the country.
What are chromosomes?
Chromosomes are the structures that carry the DNA we inherit from our parents. For typical development, humans need 23 pairs of chromosomes, or 46 in total. Normal growth and development can be affected when there are more or less than 46, or when some chromosomes have extra or missing pieces. The most common chromosome conditions seen during pregnancy are Down syndrome, Edwards syndrome and Patau syndrome.
Why do women have NIPT?
Information and Reassurance
Prenatal screening is offered to all pregnant women because of the small chance that a baby has a chromosome abnormality or other physical condition. While most women will have healthy babies, in about 1 in 250 pregnancies a baby will be born with a condition that may require medical attention.
Many women seek information about their pregnancy. In this study of women’s experience with NIPT, 86% of women reported that detecting chromosome conditions was a reason they underwent NIPT.
Due to the highly accurate nature of NIPTs, couples felt that low-risk results would offer reassurance. More than half the women who completed this study identified that seeking reassurance and a ‘peace of mind’ were important motivators for undergoing NIPT.
“The NIPT testing brought me so much peace of mind [during] my pregnancy. A small cost to pay for peace of mind” said one woman.
Since this study, an advanced application of NIPT, called genome-wide NIPT, is now available to pregnant women and couples. Genome-wide NIPT is able to analyse all 23 chromosome pairs and is capable of identifying a broader range of chromosome conditions. This gives couples additional relevant information about their pregnancy for those couples who seek this.
Avoid invasive testing
23% of women were motivated to undergo NIPT, to avoid invasive testing in the first instance.
However, it’s important to note that while NIPT is a highly accurate test, it is not considered diagnostic. That is, it doesn’t give a definitive “yes” or “no” answer. As with all screening tests, there can be false results. It is strongly recommended that a high risk screening result is confirmed with an invasive diagnostic procedure, such chorionic villus sampling (CVS) or amniocentesis.
“In comparison [to amniocentesis], the NIPT test was a far quicker procedure, obviously no different to a blood test, and far less stressful” said one woman.
While NIPT can reduce the number of women who may need diagnostic testing, it cannot replace diagnostic testing.
Experience of NIPT
Most women (94%) felt they were provided with adequate information on the nature of the test and the meaning of likely results. 95% indicated they would probably or definitely undergo NIPT again.
However, some women reported feeling pressured to have the test by their families or health care professionals, or assumed that it was standard practice.
All prenatal screening is voluntary and it is important that women and couples understand the options available to them, and make an informed choice about whether to have screening or not. There should also be time to think about what they might do if they receive unexpected results, which may generate significant stress and anxiety.
Pre and early pregnancy screening clinic
Accurate information and support is vital for women and couples having screening. VCGS offers a pre and early-pregnancy screening clinic for anyone considering, or who has had a reproductive screening test through VCGS. Our screening genetic counselling team are available to discuss tests and results by phone or email. This enables easy access to expert knowledge and support, to help women and couples make informed decisions.
Paper citation: Bowman-Smart H, Savulescu J, Mand C, et al. 'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing. Aust N Z J Obstet Gynaecol. 2019;59(5):649-655. doi:10.1111/ajo.12945