Prenatal screening that goes beyond the common trisomies

In the past decade significant advances in the use of non-invasive prenatal screening (NIPS) have allowed parents to discover more about their fetus at an earlier stage in the pregnancy.
 
NIPS is now well embedded in antenatal care, both as a first-line screen for aneuploidy, or in response to an increased risk result flagged during a first trimester screening.
 
Many professional medical bodies, including the Royal Australian New Zealand College of Obstetrics and Gynaecology (RANZCOG), also recommend that all pregnant women should be offered screening and diagnostic testing for aneuploidy – regardless of their age or risk factors.
 
And while they are used to detect Trisomy 21, NIPS can also be useful for pinpointing other chromosome variations, albeit with varying levels of sensitivity and specificity.
 
Webinars looking at the expanded scope of NIPS and how GPs can help patients through the process are being run as part of a free, three-part ‘Integrating Genomics into GP practice’ series.
 
Ron Fleischer, one of the first genetic counsellors to introduce NIPS to Australia, is set to present the first webinar on Tuesday 13 September.
 
He told newsGP the webinars will help GPs bring NIPS into clinical practice beyond the common aneuploidies.
 
‘Given this broadening scope of the test, GPs need to be aware of the range of results that may be returned from NIPS, the next steps available to verify a high-risk result, and the importance of pre- and post-test counselling,’ Mr Fleischer said.
 
‘Reproductive carrier screening is now commercially available to help identify couples who may unknowingly be at risk of having a child affected by certain serious genetic conditions.
 
‘High-risk couples may decide to consider their family planning options should they wish to avoid having an affected child.’
 
Screening is available for some of the more common genetic conditions such as cystic fibrosis, spinal-muscular atrophy and Fragile X syndrome, for which Federal Government support will be introduced from 2023.
 
But Mr Fleischer said he would like to further expand the availability and profile of NIPS.
 
‘This testing is now routinely offered as part of the IVF process, but ought to be offered to all couples who are planning a pregnancy,’ he said.
 
‘The lack of awareness of testing, as well as a lack of a Medicare rebate for testing and for genetic counselling is a barrier for patients.’
 
The tests can be given from as early as 10 weeks into the pregnancy, meaning GPs are often well placed to guide people through the process as they are often the first clinical point of contact for newly pregnant patients.
 
The first webinar takes place on 13 September from 7.00 – 8.00 pm. Further details on the webinars, are on the RACGP website.
 
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