Why prenatal screening may soon become standard practice

newsGP writers

15/03/2021 4:14:54 PM

SPONSORED CONTENT: Recent technological advances have made the test faster, cheaper, more accurate, and increasingly comprehensive.

Doctor talking to pregnant patient.
GPs are uniquely positioned to help guide patients through non-invasive prenatal testing.

Every pregnant woman has a small chance of giving birth to a child with aneuploidy.
However, over the past 10 years, improvements in non-invasive prenatal testing (NIPT) have meant women are now able to find out more about the health of their fetus, at a much earlier stage.
As such, many professional societies, including the Royal Australian New Zealand College of Obstetrics and Gynaecology (RANZCOG), recommend that all women be offered screening and diagnostic testing for aneuploidy during pregnancy – regardless of age and baseline fetal chromosomal risk.
And because NIPT can be offered from as early as 10 weeks into the pregnancy, GPs are uniquely positioned to help guide patients through the process, according to Associate Professor Vinay Rane, a high-risk obstetrician and gynaecologist.
‘Usually by that gestation most patients haven’t seen an obstetrician or gynaecologist, whereas they will already have a pre-existing relationship – and generally a very good relationship – with their GP,’ he said.
‘As a result, realistically, it’s the GPs that are most likely to be ordering the test, and therefore delivering what’s usually very good news to the family.
‘It’s usually a pretty enjoyable experience because patients are generally finding out that the pregnancy is low risk of having any genetic anomalies. And for those that want to know, many can find out whether it’s a boy or a girl and can plan accordingly.’
Associate Professor Rane said the increased capability NIPT now has means it is far more valuable – and cheaper – than it was even five years ago.
‘NIPT testing in the last sort of decade or so has been an absolute game-changer,’ he said.
‘We talk about computers in terms of their processing power being able to double each year while simultaneously halving in size and it’s the same thing with regards to NIPT; every year, we find that this test is capable of being done earlier, being more accurate, testing for more things, and the results are coming back quicker.
‘When we had our first child, the test was a few thousand dollars and only tested for a couple of conditions. Now, the test is a couple of hundred dollars, tests for a wide variety of conditions and can even tell you whether your baby’s going to be a boy or a girl.’
Associate Professor Rane is presenting the first webinar of a free three-part series intended to empower GPs to offer NIPT to their patients. He said it’s important for GPs to be familiar with the screening technology due to its increased use and value for patients, particularly when conducted early in the pregnancy.
‘The test is incredibly easy. It’s a five-minute blood test and you don’t have to be fasted for it, which is handy … and pretty much any pathology collector can take it,’ he said.
‘It’s a screening test, so if the results come back suggesting that there is a potential of an anomaly being found, then we’d normally conduct a diagnostic test down the track.
‘So, the earlier the test is conducted, the more time we have to be able to provide patients with relevant counselling if needed, and also if anything needs to be done in terms of managing the outcome of the test, the earlier the better in terms of the mother’s safety.
‘I’d be very surprised if it’s not recommended practice or even mandated going forward, given the psychosocial, emotional, and cost benefits to the patient as well as the community.’
Register online for the Illumina NIPT webinar series.
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aneuploidy NIPT non-invasive prenatal testing pregnancy prenatal screening

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