Tag Archives: Down’s Syndrome

NIPT – Non-Invasive Prenatal Testing

Reading through the various forums, I heard about tests called Harmony, NIFTY and Serenity that some women were using as a more accurate way of finding out if their baby has Down’s Syndrome. I had never heard of these types of tests before so decided to do some research, which turned into a lot of research!

It seems these are all brand names for blood tests that are grouped under the umbrella term NIPT/Non-Invasive Prenatal Testing. They all work in a similar way ie. taking a sample of the mother’s blood, isolate from it the baby’s DNA which can then be analysed for Down’s Syndrome, Edwards’ Syndrome and Patau’s syndrome. The accuracy levels are really high, over 99% in most cases, which is much higher than the nuchal fold measurement/blood markers that the NHS currently use to assess risk. And unlike an amniocentesis or a CVS, which remain the only way to be 100% certain, there is no risk of miscarriage.

The downside of these tests is cost – they are between £320 – £500 and are currently only available privately (although watch this space as the NHS is considering offering a similar test to all pregnant women).

Mike and I had lots of discussions about what to do which inevitably ended up with long discussions about what we would do if the test showed our baby had Down’s Syndrome. And should we even be having the test in the first place? Would it be so bad if we did have a baby with Down’s Syndrome? Don’t people with Down’s Syndrome and other disabilities also have a contribution to make to the world? Would we really terminate our much longed for pregnancy? It’s all very well wanting to have a baby at 50yrs but how would we cope if that baby had Down’s Syndrome? Too many difficult and searching questions that we bounced around with for a good few days.

In the end we decided to go ahead which then led to even more research as there are so many tests on the market! The tests apparently do vary in the way they work but I couldn’t find a huge amount of information on this, and, even if I could, I probably wouldn’t be able to understand it. So I did a comparison based on cost, how easy it was to get the test done, accuracy levels, what they tested for and where the results are analysed. The most popular tests are analysed overseas but, when I phoned one of the providers, they suggested I consider Serenity, a test that was analysed in the UK so you get the results quicker and it was cheaper. They also offered an option where they sent me a kit in the post and I had the blood sample taken locally (thankfully my GP surgery were as helpful as ever) and posted it back to them.

Then came yet another nervous wait for a week or so before finally the results came back……completely clear of any abnormalities.

Another hurdle passed.

 

Early scans – 12 week scan

12 weeks

This feels like a real milestone of a scan. Pass this one and the risk of miscarriage drops to 1% and I felt I would finally be able to breathe again and possibly even start to believe in this pregnancy.

The sonographer, as ever, was brilliant. Friendly, informative and said immediately when she had found a heartbeat. I could have cried. At this point I was still having no symptoms, it’s still too early to feel movements so I was hanging on to every scan appointment and just hoping that nothing had gone wrong. But there was our baby, sleeping peacefully with a little heartbeat going ten to the dozen. What a wonderful sound.

We had agreed to the NHS test for Downs Syndrome and reassuringly, the sonographer mentioned there was no nuchal thickening which was a relief at the time. I looked at our notes later though and saw she had measured the nuchal fold as 2.2mm and I’d have preferred less than 2mm but we figured with a young donor, our risk should still be low. We’d just have to wait and see.

After completing the measurements she needed the sonographer had me turn on my side for a minute or so and then back and it did the trick. The baby was awake and did a little dance for us, such a beautiful sight, made us laugh and gave us images to remember. From then onwards s/he has been the “dancing baby”.

Following the scan, we saw a midwife who took a blood sample to complete the testing for Downs Syndrome and then we were on our way again, smiling and with images of our beautiful dancing baby in our minds. A great day.