After the initial high of getting pregnant, you go to see your midwife and you’re suddenly hit with all these big decisions, and it hardly even seems real yet. Will you breastfeed? Where do you want to have the baby and how? Will you have the flu and whooping cough vaccine? And one of the more difficult decisions, will you have screening for the more common chromosomal abnormalities? A lot of people say yes to everything without considering what it actually means. There are a great deal of conditions and abnormalities that we can’t test for in pregnancy, or that are so rare that they wouldn’t be checked for normally unless there was a family history. The common conditions that you may have heard of that we test for are Down’s Syndrome (Trisomy 21) Edward’s Syndrome (Trisomy 18) and Patau’s Syndrome (Trisomy 13). Down’s syndrome is the one you are probably most familiar with, people born with it will have varying degrees of learning difficulties and sometimes heart conditions but can lead a full life. Edward’s and Patau’s are more severe and are often fatal, with the babies not making it to birth or dying shortly after. Some survive until adulthood, but this is rare and often with severe abnormalities.
There is now a new test available privately and on the NHS in some hospitals, being rolled out more widely soon that takes away some of the worry, as it tests the mother’s blood but looks at the baby’s DNA, can be done early on in pregnancy and it is over 99% accurate. Here I will aim to answer the frequently asked questions about the non invasive prenatal test (NIPT) with the help of the experts behind the IONA test, who are the only NIPT manufactured and analysed in the UK. It is also the quickest, with turnaround taking 3-5 days, all done by a British company, Premaitha Health plc.
At the moment, the screening offered through the NHS is called the Combined screening, as it combines an ultrasound scan looking at the nuchal fold of the baby’s neck along with looking at a hormone marker from a blood test taken from you plus your age. A risk factor is then given to you such as 1:10000 chance. Anything under 1:150 is considered high risk and you would then decide whether to have an invasive test, like an amniocentesis or CVS (chorionic villus sampling), where they take DNA directly from the fluid or placenta to determine whether the baby is affected. This test carries a 1% risk of miscarriage. You could also choose not to have the invasive test. An ultrasound later in the pregnancy can also help with a diagnosis, although this is not definitive. The combined test can be done between 11 and 14 weeks gestation. The Quadruple (or Quad) test can be done from weeks 14-20, this is not as accurate and can only check for Down’s syndrome. This is also a blood test from the mother, and the results come as a risk factor ratio. With a diagnosis of any of these conditions, you would then consider your options: continue the pregnancy or terminate it. This is important to consider when undergoing any form of testing – why are you doing it? For information and preparation, or to terminate the pregnancy.
Q At what point in my pregnancy can I get the test done?
A The IONA test can be done once you are 10 weeks gestation until birth.
Q What does it involve?
A A small blood sample is taken from the mother and is sent for analysis at a local laboratory.
Q I am pregnant with twins – can the test still be done?
A Yes, we can still do the test for twins, but not multiples of more than two babies. If the twins are non identical or have separate sacs and placentas, the accuracy rate drops to 95%, and it would only tell you that at least one baby has the condition. If you had a high risk result, further invasive testing would be necessary.
Q How accurate is it?
A The IONA test is greater than 99% accurate
Q Are there any false positives?
A The false positive rate is less than 1%. A false positive is when the test says the baby is at a high risk of having Down’s syndrome but is actually normal. The IONA test is much better at ensuring the babies are truly high risk. This allows the doctor to only refer the mother for an invasive test when it is likely the baby is affected. This means fewer pregnant women will undergo unnecessary invasive follow-up procedures such as amniocentesis or CVS which are stressful, painful and can carry a small risk of miscarriage.
Q Is there a chance it will need repeating?
A In the blood sample we take, there is enough for two rounds of testing. In the unlikely event we cannot get a result, we can repeat the sample. The redraw rate is less than 0.5%.
Q I’ve heard of the Harmony test, what’s the difference between that and IONA?
A The Harmony test is from the USA and uses a different technology. Their samples are shipped out to the USA for testing, leading to a longer turnaround and more chance of samples being lost. The IONA test is performed in a local laboratory in the UK and it has a faster turnaround time for results, allowing pregnant mums their results faster and reducing stressful waiting times.
Q How long before I get my results?
A It takes 3-5 days to process once the sample is received in the lab.
Q Where does my blood sample go to get processed?
A The IONA labs are based in Manchester, UK.
Q Where can I get my test done?
A There are various locations across the UK: London, Leeds, Reading, Newcastle, Manchester, Liverpool, Hull, Coventry. You can also get it in India, Poland, Republic of Moldova and Armenia.
Q How much does it cost?
A The price can vary, the IONA test is available within some NHS hospitals. St Georges Hospital in London offer their high risk patients the test for free. Leeds General Infirmary and St James University Hospital in Leeds offer the test privately to their mums across the Yorkshire region with prices starting at £300. Privately prices start at £320 for the blood test alone, and £395 with an ultrasound scan. An ultrasound scan is always recommended.
Q If I have a positive result, what do I do?
A It is recommended to confirm the results with an invasive test such as an amniocentesis, done by your NHS provider.
Q How does it work?
A When you’re pregnant, your blood has some non cellular foetal DNA present, this can be separated from your DNA in the lab and looks at small changes in the ratio between the maternal and the cell free DNA to determine the likelihood of a Trisomy being present.
Q Why choose the IONA test over the combined screening?
A It can be done earlier in pregnancy, and it is more accurate. Many pregnant mums will have the combined test and if they are high risk, they will then opt for an NIPT test like IONA rather than an invasive procedure as it is safer, more accurate and will give mum peace of mind.
Q Are there any side effects?
A No, as it is only a blood test, there is only the mild discomfort of drawing blood from the woman.
Here are some testimonials from women who have had the IONA test:
Gillian Rodgers (41): “I got my results back within five working days during the same week. The rapidity of the results reduces stress levels as I didn’t have to wait as long as I would have had to wait if I’d have had the amniocenteses. I was aware that the IONA® test results are processed by a UK lab and that’s why it’s so quick. I would absolutely recommend the test to friends.”
Elizabeth Steward (42): “I was offered the IONA®test at St Thomas’s which was a great relief due to there being no risk of miscarriage. After having the test and giving birth to a healthy baby I would definitely recommend the IONA test to friends as it gives quick, accurate results, with no risk of miscarriage and ultimately gave me peace of mind.”
Kate Ewer (46): “I feel so lucky to have been offered this test. Obviously I had an anxious wait for the results, but taking a blood test is so much easier than having to go through an invasive procedure. I’d like to thank all the staff at St George’s Hospital for the great care I received and I would encourage any woman who was initially assessed as high risk to ask for the test”.
Karen Rosco-Bailey (43): “I had no concerns whatsoever about having the IONA® test. When my consultant told me that there was no risk of miscarriage, my decision was made. Conceiving naturally was such a wonderful surprise for me and my partner, and the 1% risk of losing my miracle baby during an invasive test seemed huge.
“I would absolutely recommend the IONA® test to other pregnant women. Any woman would do anything to avoid risk to their baby.
Well, I hope that this has helped answer some or all of your questions about this new form of screening. Please feel free to comment and ask me anything and I’ll do my best to answer!