Safer test for Down's syndrome to be offered to mothers-to-be


Expectant mothers will be offered a new, safer test for Down's syndrome, reducing the risk of miscarriage during the screening process, the Government has announced.

The non-invasive prenatal test (known as NIPT) will mean far fewer women will need invasive tests including amniocentesis, which carry a 1% chance of miscarriage and around a one in 1,000 risk of serious infection.

At present, all pregnant women in England are offered a combined blood and ultrasound test in the first three months of pregnancy to check for abnormalities.

Only those who show the high chance of their baby developing genetic conditions such as Down's, Edwards' and Patau's syndromes are offered the invasive tests, which often involve taking a sample from the womb.

The Department of Health's (DoH) approval of the new test - recommended by the UK National Screening Committee - means women will be able to opt for the safer, non-invasive blood test to check for traces of chromosomal syndromes.

It is expected to be rolled out within the next three years, once staff have been adequately trained and the technology made available.

Health minister Philip Dunne said: "We want women to be able to access the safest screening tests available, so based on the clinical evidence, we have approved the use of a new non-invasive prenatal test for Down's, Edwards' and Patau's syndromes.

"By offering non-invasive prenatal testing, fewer pregnant women will go on to be offered diagnostic testing which carries a risk of miscarriage."

Jane Fisher, director of the parent support organisation Antenatal Results and Choices (ARC), said: "We at ARC welcome the implementation of NIPT into the current NHS screening programme in this carefully coordinated way, underpinned by professional and public education.

"Screening for Down's syndrome, Edwards' syndrome and Patau's syndrome is optional and, for women who choose to have it, the provision of NIPT will mean fewer will face the difficult prospect of risky invasive testing.

"The move also goes some way to dealing with the current inequity that most women can only access this more accurate screening method if they have the means to pay for it in the private sector."

Research shows the introduction of the test could result in a fall in the number of women undergoing invasive testing each year with an estimated reduction from 7,900 to 1,400.

This means that there could be a reduction in the number of miscarriages related to the invasive diagnostic test - from 46 to approximately three per year, the DoH said.

Dr Anne Mackie, director of programmes for the UK National Screening Committee, said: "We will closely manage the roll out of NIPT to give us a better understanding of the impact it has on the decisions women and their partners make following their test results.

"We are developing the full detail of the roll out, including the number of sites involved and the results and information to be collected.

"Key to ensuring we get this right is the work we are doing with patient groups, scientists and clinicians, to help us develop balanced informative resources for the public and health professionals."

Professor Lyn Chitty, of Great Ormond Street Hospital, an expert in clinical genetics, fetal medicine and prenatal diagnosis who worked on the test, said: "The staged roll-out will be important in allowing us to train all health professionals involved in delivering this new service to ensure parents have as much information as possible upon which to base decisions about their pregnancy, and to support them in those decisions."