Soon, a safer Down syndrome testing that reduces the danger of miscarriage would be available on the NHS.
Amniocentesis is a test done in the amniotic fluid of the fetus’ sac to look for birth defects and genetic disorders, wherein 1 in every 200 women is at risk of losing her baby.
The new test conducted at the Great Ormond Street Hospital for fragments of fetal DNA in the mother’s blood, suggests it may be cost-efficient.
The NHS is yet to decide if it elects to be added for Down’s syndrome screening.
Each year, some 750 UK babies are born with Down’s syndrome. All expectant mothers are offered testing for birth defects and genetic disorders.
Initially, an ultrasound scan and chemicals in the mother’s blood are used to assess the likelihood of the baby having Down’s.
Women with a 1-in-150 chance of having a baby with Down’s syndrome is offered to undergo an amniocentesis, wherein an amniotic fluid sample is extracted in the sac containing the fetus.
Women who have no probability of having a baby with Down’s syndrome needs to think twice before undertaking the risky test.
The fetal DNA remains end up in the bloodstream of the mother. Non-invasive prenatal testing or NIPT, utilize this DNA to test for genetic abnormalities.
This process is already used in more than 100 countries, but the Great Ormond Street Hospital has evaluated how to apply it on the NHS.
Prof Lyn Chitty, the trial leader, told BBC, “It’s a much more accurate test, so it’s 99% accurate for Down’s syndrome so it reduces the number of invasive tests significantly, by more than 80%.”
But, it does not eliminate completely the need for an amniocentesis.
Anyone who tested positive in NIPT would still necessitate a final confirmation of amniocentesis.