Are you pregnant? Or perhaps like me, pregnant and ‘older’. I’m going to be forty-three when I give birth to my second child and I’m not in the minority any longer. Women are leaving it later, rightly or wrongly, to start a family. Really, anyone over thirty-five is getting on a bit. You might not feel it and everyone is different, but fertility starts to wane much earlier than you’d think. I don’t want to scare you, most older women go on to have healthy babies but be aware, we aren’t as fertile as we think as we age!
With this in mind, it is vitally important to have the correct care. As women age, their eggs do too which can lead to issues in pregnancy with poor cell division in embryos leading to extra chromosomes being produced. This in turn causes foetal abnormalities, especially Down’s Syndrome. At 20 the risk is 1:1450 at 30, 1:950 and at 40 1:85.
Every woman in the UK is offered amazing care throughout pregnancy on the NHS. We are lucky. This starts with a first scan at 12 weeks unless there are issues beforehand. It is called a dating scan and estimates due date. More importantly this is your first opportunity on the NHS to test for Down’s Syndrome with a nuchal translucency test.
Along with blood tests, the nuchal test is a harmless scan which measures the amount of fluid under the skin of the foetus’s neck. This measurement gives an indication of level of risk that a foetus has Down’s Syndrome. The test takes maternal age into consideration too. This is called a combined screening test and has an accuracy rate of only 85% which means that 15% of mothers are told that they are considered high risk and need invasive diagnostic testing in the form of amniocentesis carried out between weeks 15-20. A needle is inserted through the abdomen into the wall of the uterus and into the amniotic sac to extract a small amount of fluid. The procedure carries a risk of miscarriage in 1:100.
A new screening test is now available called the Harmony Test. It’s a simple blood test taken from the mother and assesses the cell free foetal DNA in the sample. It is greater than 99% accurate for Down’s Syndrome, 98% for Edward’s and 80% for Patau’s – all three due to chromosomal abnormalities with Down’s being the one most frequently linked to maternal age. It is currently only available privately, but this ‘disruptive technology’ – a new test superseding the old – is much more accurate than the combined screening test. It avoids the need for nearly 15% of women who might be given a high risk result from the standard combined screening (nuchal plus blood test) to have an invasive procedure, in order to achieve a more precise result – particularly as there is a high chance of their result not being positive for Down’s Syndrome.
At the moment, the blood sample, taken at a private clinic, is sent to The Doctors Laboratory (TDL); the largest laboratory in London. At the moment they refer the samples to the US for processing and analysis. The cost of the Harmony test and the scan is around £400 but may become a bit less, because as we speak, TDL is in the process of transferring the technology to their laboratory in London, which means that processing will soon be carried out here in the UK. This will also quite significantly cut down the time between sample taking and results, currently taking from between 8 -12 days.
It’s a no-brainer, of course. The NHS are starting to tender for this screen now and in the future it will most likely replace other testing for higher risk women that they offer. For now, my one piece of advice for any expectant parent is have the test privately. I had mine done at the Birth Company in Harley Street which also specialises in ultrasounds – I am having additional ones at their clinic for reassurance, in between the standard ones offered on the NHS. Being older during this pregnancy, I want all the reassurance I can get. A stress-free mummy means a stress-free baby too!