Less invasive prenatal testing

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Things have changed in the last two years.

Non-invasive tests have become cheaper and are more available.

For example, in a recent mail out from a Queensland lab advertising its services there are now over 50 collection centres including rural areas like Mackay, Rockhampton and Mt Isa. You still need to make a booking but that is a lot more convenient than travelling to a capital city for the blood test.

The advertised price is now $450 for Harmony test, although it is still not included in the list of MBS rebated pathology tests. You still need have accurate gestational age and this test can be done from 10 weeks. 

19 April 2014


 

The most recent ANZJOG  has two papers and an editorial about non-invasive prenatal testing for certain fetal genetic disorders.

This should really be called less invasive as unlike some DNA testing it does require a blood specimen. But it…

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2 thoughts on “Less invasive prenatal testing

  1. My understanding here in NSW is that it has to be an obstetrician or gynaecologist who orders the test, it can’t be a gp. I’ve had 4 patients who have had it done now as they were concerned about their risk. 3 of the 4 we’re told that they didn’t then need the NT testing but one was told that she did. Any thoughts?

  2. Good questions.

    Yes GPs absolutely can refer for the tests. It’s possible that the recommendations for patients to discuss it with a specialist obstetrician arise because the referring practitioner should have a good grasp of counselling for pre-natal testing. That would include a lot of GPs who do antenatal care and particularly GP-obstetricians.

    You’ll just need to find out who is offering the test and source a referral form from them. Here in WA it’s offered by two of the major pathology providers (Western Diagnostic Pathology and Clinipath) but as Mark says, patients need to present to specific locations for blood collection, it can’t be done at just any old pathology collection centre. The reason for that is that the blood samples need to be processed and shipped rapidly to the overseas laboratory, so there need to be systems in place to make sure that happens. From what I understand, organisations who want to offer the test locally need to become registered with the laboratory overseas so that they have all the required systems set up.

    I understand that one of our local labs is looking at ways of processing the samples differently after collection to allow them to be collected at a wider range of centres, which hopefully will also include rural areas. It would certainly be a lot easier for a lot of patients to get to their local pathology lab to get a blood test rather than to a MFM specialist for CVS or amniocentesis.

    The cost is also falling fairly rapidly and we would expect to see it coming down to the $500 mark in the not too distant future.

    It’s a bit unclear at this stage how the NIPT fits in to current screening algorithms. Most of what I have read is suggesting that it should be done in combination with ultrasound to confirm dates, exclude multiple pregnancy and major structural anomalies. If women are in the high risk group (ie, >35 at delivery, previous trisomy baby or parental translocations) then I’m assuming they wouldn’t also need PAPP-A and HCG to complete the usual first trimester screen. However, women who are low risk would have the normal first trimester screen and then could be offered the NIPT instead of amnio if the risk came back as “high”.

    Note that a positive NIPT requires a follow-up invasive test for confirmation.

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