Down Syndrome test may lead to a rise in termination

Xavier Symons
August 12, 2016
Reproduced with Permission

A safer and more accurate screening test for Down Syndrome is set to become available on the UK's National Health Scheme , raising concerns about increased termination of babies with disabilities.

The new screening procedure, known as a cell-free DNA (cfDNA) test, detects and analyses fragments of the baby's DNA in the mother's blood.

In a recent study published in the New England Journal of Medicine , researchers found that cfDNA test "had higher sensitivity, a lower false positive rate, and higher positive predictive value than did standard screening". The false positive rate was just 0.06 percent as compared to 5.4 percent for standard screening.

Doctors are enthusiastic as the test means fewer women will need further, invasive procedures (such as amniocentesis) to confirm initial results. Women with abnormal non-invasive test results will still be recommended an amniocentesis or CVS test as confirmation, but far fewer will be needed overall.

Parents of children with Down Syndrome have expressed concern. In a letter to UK Health Secretary Jeremy Hunt, the campaign group Don't Screen Us Out said that if the NHS funded the treatment it would "result in a profound increase in the number of children with Down's syndrome screened out by termination".

Dr Elizabeth Corcoran, of the Down's Syndrome Research Foundation, said: "We demand Jeremy Hunt halt the roll-out of Non-Invasive Prenatal Testing (NIPT), and listen to the views of people with Down's syndrome and their families. Make no mistake, this is will not be to the benefit people of with Down's syndrome, born or unborn."