'Safe' non-invasive prenatal testing for Down's syndrome one step closer to reality

A new study has revealed that non-invasive prenatal testing (NIPT) for women with Down's syndrome is safe and effective.

The results of a National Institute for Health Research (NIHR) study carried out by the first NHS laboratory suggested that it could be introduced into the National Health Service (NHS), as it has been accepted by many parents.

Professor Lyn Chitty, from the UCL Institute of Child Health and Great Ormond Street Hospital, London, said that NIPT performed well in identifying problems, and women were very positive about it, which lead to sharp fall of invasive test.

In 2014, the researchers say, 32 percent of prenatal diagnostic tests for monogenic disorders in their laboratory were non-invasive. NIPD for single gene disorders in a fetus is diagnostic, as it targets specific genetic changes present in a high risk family.

For this reason it would remove the need for invasive testing completely, reducing the risk of miscarriage and making prenatal diagnosis for these conditions safer and more accessible to families who would not otherwise be prepared to take the risk.