Simple blood test can reveal foetal problems

DNA screening can pick up on abnormalities at nine weeks

A simple blood test can now be carried out on expectant mothers, at just nine weeks, to reveal the gender of the baby and if there are any foetal abnormalities present.

The DNA screening programme allows doctors to intervene in cases of abnormalities, sometimes operating while the foetus is still in the womb.

New technology means that the baby’s DNA, present in the mother’s blood, can be separated out and tested. The bloods can be taken from the mother in a GP’s surgery and are then sent to the US for testing. The screening costs between €500 and €800, which patients have to source themselves.

The normal procedure for screening in pregnancy is the 20-week anomaly scan but only half the maternity units in Ireland routinely perform this scan.

Professor Fergal Malone, the chairman of the Royal College of Surgeons (RCSI), speaking on RTÉ Radio One’s Sean O’Rourke Show, described the current system as a “postcode lottery” where half the women do not get the necessary scan.

Prof Malone said: “In virtually all other developed countries the 20-week scan is considered to be the standard of care — in the UK, France, Australia, Canada, and the US everybody gets the anomaly scan.”

He added that if women have a specific reason to be concerned they may be referred to another hospital to get the scan. However, the majority of patients don’t have a specific cause for concern so if they want the scan they have to pay for it privately themselves.

He explained how screening saves lives — in some cases by intervention and operating in the womb; in others by having certain conditions present at birth.

“You don’t want a baby with a severe heart defect, delivered at 2am, in a regional hospital at the weekend,” he said.

“Then the Air Corps have to come out and helicopter the baby, in a critical condition, up to Crumlin.

“Obviously it is better if a baby with a heart defect is born at 9am on a Monday morning with cardiologists present.”

Prof Malone outlined how in the case of diaphragmatic hernia, where a baby has a hole in their diaphragm, an operation performed in the womb can save a life. In this instance if doctors are aware of it before the baby is born, they can operate by inserting a balloon in the baby’s throat while he/she is still in the womb.

Prof Malone recommended that the anomaly scan should be freely available to everyone and then the DNA testing should be optional for those with concerns.

He added that he expected that the price of the testing would drop over time.

There is a free talk this evening about the importance of screening during pregnancy at the RSCI in St Stephen’s Green, Dublin.

People need to register if they wish to attend or alternatively the talk will be broadcast on afterwards.


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