‘Turning point’ in Down’s syndrome screening

The new test has a greater than 90 per cent chance of detection. Picture: Getty

All pregnant women are offered the chance to have a blood test to see if their unborn child is likely to have the condition, but British company MAP Diagnostics has developed a test that analyses their urine instead.

The test, which checks for proteins present in a microscopic sample, has been found to have a greater than 90 per cent detection rate and can be used from eight weeks into the pregnancy.

Women who are between 11 and 14 weeks are currently offered a blood test and ultrasound scan, known as the combined test.

If they are too far along for this, they can still have the blood test between 14 and 20 weeks of pregnancy, but this is less accurate than the combined test.

If these show they have a risk greater than one in 150 of having a baby with Down’s, they are then offered a choice of two invasive diagnostic tests to find out for certain – but both carry a one in 100 risk of miscarriage.

The MAP Diagnostics screening test would still need to be followed by a diagnostic test, but the company estimates it could still save millions of pounds for the NHS each year due to  the reduced need for appointments for blood taking, scans and presenting results, along with the relatively affordable equipment required to run the screening.

The test produces a result in around a minute.

Chief operating officer Professor Ray Iles said the screening method could be used in countries where women have less access to hospitals as they could send off their urine sample in the post.

“It could bring a level of pre-natal healthcare that only the affluent West can afford,” he said.

“The beauty of this test is it’s easy, the sample is non-invasive, it’s very fast, it has a good detection rate and it’s affordable.”

He said the test, which he described as the “result of a lifetime’s work”, was far more affordable than another screening method, non-invasive prenatal testing (NIPT), which is currently only available in private hospitals in the UK.

NIPT, which has been found to be 99 per cent accurate, is currently being considered for use on the NHS by the UK National Screening Committee. The NIPT blood test detects a baby’s genetic material and unlike the invasive tests carries no risk of miscarriage.

Prof Iles added: “We understand the anxiety every parent faces not knowing whether their baby will be affected by this serious disability and this has driven us to persist with our research.

“We expect that the NHS and other healthcare providers will jump at the chance to improve the accuracy, timing and cost  of screening for this genetic disorder.”

Professor Howard Cuckle, adjunct professor of obstetrics and gynaecology at Columbia University, New York, an expert in antenatal screening, said: “The MAP test is much cheaper than current screening in many countries and vastly cheaper than the other new technique.

“If the reliability indicated in early studies is borne out in ongoing studies over the next few months then this is a completely disruptive technology. Its beauty lies in its simplicity.”