Test ‘can detect 95%’ of genetic problems in foetuses
Professor Fergal Malone was honoured for best research and presentation by the US-based Society for Maternal Foetal Medicine.
The professor, based at the Rotunda Hospital in Dublin, took screening for foetal abnormalities a step further by combining two sets of ultrasound and blood tests to give the best possible result.
The first part of the test, currently available at the Rotunda, involves a scan at around 12 weeks in which the thickness of the skin at the back of the foetal neck is measured. The thicker the skin, the higher the chance of problems developing.
But the test must then be combined with a blood test from the mother which measures certain proteins. Some of these proteins are high when the risk of Down syndrome presents itself.
“Combining this information from the scan, the blood and the mother’s age, we then calculate a very precise risk (or likelihood) that everything is fine or, alternatively, there might be a problem,” he said.
The Waterford professor’s work combines the first trimester scan and blood test with a second scan and blood sample taken at about 16 weeks.
“This two-stage test detects about 95% of problems and is the most efficient way to go with pregnancy screening,” he said.
But he added it was a bit early to advocate that the two-stage test be introduced in Ireland when it was still difficult for patients to have the first trimester test.
He said a lot of doctors in Ireland still reserve information about these tests only for mothers aged 35 years or older.
“To only offer these tests to older women is completely unfair to younger women, which is the group in which we will see most of these cases.”
He said international best practice in obstetrics was to alert all pregnant women, regardless of their age, of the availability and reliability of the new tests.
