Mums-to-be can now have their unborn babies screened for Down’s Syndrome earlier than ever before thanks to a new test.
The Harmony Non-Invasive Prenatal Test – which is offered to patients privately here in the North East – also screens for genetic conditions to give parents-to-be the extra reassurance of a normal pregnancy weeks before NHS tests are carried out.
Sadly the new screening is not yet available on the NHS, meaning anyone who wants that extra peace of mind needs to fork out a whopping £450. Although if you’re an older mum who is anxious about your baby having a chromosomal abnormality such as Downs, Edwards or Patau’s syndrome, it is certainly worth thinking about.
While I fell into the high-risk category because of my age, I wasn’t informed of this test until after I’d passed 20 weeks’ pregnant by which point it was too late. I would have most definitely taken it for the additional peace of mind if it had been available to me.
How it works:
A small amount of DNA from the unborn baby always circulates in mum’s blood stream. This new technology allows a small amount to be identified. Any results which indicate a high risk would then require a further diagnostic test. Expectant mothers are still advised to have their usual ultrasound scans and testing for Down’s Syndrome as part of their routine NHS care.
What is involved:
Before a sample is taken, the mum-to-be will have a preliminary ultrasound scan to ensure the gestational age and wellbeing of the pregnancy. Blood is then taken which is sent to a company in the USA to carry out the test on the DNA extracted from the blood sample.
When will I know the results?
The result is available within three to 10 days, the normal turnaround time is five days. The result is expressed as a probability. It is a screening test and not a diagnostic test. A low risk test result gives a risk of a chromosomal problem of less than 1:10000. A high risk result gives a risk of greater than 99%. A high risk result does not confirm that the baby has the chromosome abnormality. An amniocentesis or chorionic villous sampling would then be necessary to give a diagnosis.
Are there any problems the test will not pick up?
Yes. Structural abnormalities such as Spina Bifida, heart defects and a poorly growing baby will only be seen on scans and often not until later scans. These scans should still be undertaken.
Anyone wanting to find out more can contact the RVI’s Fetal Medicine Unit on 0191 282 5837 or alternatively to find other areas where the tests are being carried out, visit the developer’s website here.