Last pregnancy I had a huge shock when I screened positive for Down Syndrome at my NT scan, giving me a 1 in 34 chance. I knew I couldn't live with myself if something went wrong with the invasive testing (no judgement on those who do invasive testing, after all most would do) and knew we would not terminate, so I waited it out for 20 incredibly long weeks. At 32 weeks I had a safe "late" amnio which confirmed DS did not have Down Syndrome.
A while back somebody conveniently invented a non-invasive maternal blood test (Harmony is just one of them - there are others like MaterniT21, Verifi etc) that is 99%+ accurate at spotting T21 (Down Syndrome) and almost as good for T13/T18. By the time I got pregnant with this DC this test had finally become available privately here in the UK and I could not have been more relieved.
I wasn't going to wait for my NHS NT screening this time (not that they've booked me one thanks to bureaucratic FAIL, long story) so two weeks ago I went to the Fetal Medicine Centre in Harley Street to get my bloodwork done for Harmony. I did not have the NT screen at this time as I was only 10 weeks. Harmony takes around two weeks to process and right now needs to be shipped off to the US.
Today I returned. Thankfully the lovely doctor told me as soon as I got in the door that Harmony had come back negative i.e. low risk, and that whatever we saw on the NT screening I was about to do was most definitely surpassed by the Harmony results.
Bloody good thing really. My NT screening was 1 in 5 for Down Syndrome as it turned out. 2.7mm nuchal (over 95th percentile) and a massive off the charts bHCG value of 5.43MoM. Knowing what I know from waiting it out last time and obsessing over NT screening data, I'd have said I was screwed. But.. Harmony says there is only a 1 in 10,000 chance of Down Syndrome, and Harmony is by far the more accurate test as it looks at baby's DNA as found in its mother's blood, not various markers and their correlations with trisomies. I trust the result as does the doctor.
If Harmony comes back high risk, it's a 1 in 2 chance and at that point most people would either accept it or have a CVS/amnio to confirm.
It surprises me that although plenty of people have heard of these tests, plenty haven't either. They are not YET available on the NHS (they will be) and I guess not every medical professional may have heard of them either yet so may not suggest them as an alternative to the traditional screen positive choices. As an alternative to invasive testing they are literally lifesavers, regardless of what the results and ultimate choices that are eventually made.
I also have the sex of the baby, as it detects that, in a sealed envelope waiting to be opened by DC1 when she gets home from school so we can all find out together!
You can get Harmony for £400 from the FMC, it's usually more expensive from other clinics. It isn't cheap at all, it's a personal decision as to whether the cost is worth it over a free NHS CVS/amnio and their risks, or waiting it out. I should point out that it is not diagnostic like CVS/amnio BUT it is as close as you can get pretty much. The published statistics on accuracy are very impressive.
The more people know about this test and their options beyond the previous invasive/wait it out choices, the better, hence this post!