New test for Down's took the fear out of my pregnancy

Gill and Richard with son James

WHEN Gill Rodgers was asked to come into hospital for tests to find out whether her unborn baby had Down's Syndrome, she was plunged into a world of fear and uncertainty.

 

At 41, she understood that there was a higher than average chance of her child having the genetic condition that is caused by the presence of an extra chromosome. It is diagnosed via an invasive screening test that can cause huge trauma and a potential for miscarriage.

Yet instead of the standard amniocentesis needle test, Gill became the first woman in the UK to be offered a revolutionary blood test on the NHS. It has enhanced accuracy and no risk of losing her baby.

The IONA test can detect DNA in cells from the foetus found in the mother's blood and spot evidence of chromosomal abnormalities. It uses next generation sequencing technology to count fragments of chromosomes in the blood which indicate Down's and other genetic conditions.

Results are available within five days compared to the current two-week system which sends off samples to China and the US for testing.

"I made medical history," says Gill, a journalist, who has a three-year-old son James and is now six months pregnant.

"We had planned a second child and being a bit older, knew there were risks. I had the combined scan and test at 12 weeks and they said they would call the next morning. Even though you are expecting it, it is not a call you want to receive."

All my fears of what could be wrong were unleashed

Gill Rodgers

Gill, who has been married to press officer Richard for five years, was told she needed an urgent test at St George's Hospital, London, to check on her baby's health.

"All my fears of what could be wrong were unleashed. I knew about the amniocentesis, a big needle into the abdomen with a one per cent risk of miscarriage. It doesn't sound a lot but the danger is there," she says.

"I was told there was only a one-in-450 chance of Down's when I was pregnant with James when I was 37 but now it was a one in 16."

St George's is pioneering the new IONA system, developed in the UK by Manchester-based company Premaitha, and Gill was offered the blood test instead.

"I went in fully expecting the invasive test, so a lot of fear evaporated when I had the new test. We were both very relieved and although the next five days were pretty tense, I got the all-clear. Waiting two weeks would have been very stressful."

Richard, 40, adds: "When we woke up on the morning of the test, I really didn't want Gill to have to go through it.

"We knew there was a chance of a miscarriage and we dreaded what might happen. Being offered the alternative was incredible and the relief on Gill's face was obvious.

"Although the result was still not something we could control, the slight risk of a miscarriage had gone and it was a huge weight lifted. It reaffirmed what a wonderful level of care the NHS offers."

Professor Basky Thilaganathan, consultant obstetrician at St George's, believes the new test will lead to a drastic reduction in the number of false positive results, where women are wrongly identified as having a higher chance of having a baby with Down's, from the current combined screening test at 11 weeks that measures hormone levels and an ultrasound scan to measure fluid under the skin at the back of the baby's neck.

That test is around 80 per cent accurate but IONA claims 99 per cent accuracy, which substantially reduces the number of women identified as at high risk.