Congenital defects - Detection is a national priority

The case for a national set of guidelines for prenatal screening, which would vastly increase the detection rate for congenital defects, is convincingly made in the Irish Examiner by one of the leading experts in the field.

Prof. Fergal Malone is the newly-appointed professor and chair of the Department of Obstetrics and Gynaecology at the Royal College of Surgeons and the Rotunda Hospital, who has extensive experience after more than a decade in North America.

A Government-funded national screening programme could expand the level of such detections from 10% or 15%, to 75% or 80% with the very obvious advantages for pregnant women that that implies.

A prerequisite to that, Prof. Malone argues, is that it is essential to produce more expertly trained personnel to perform ultrasounds. Currently, up to 90% of congenital abnormalities can go undetected if an unskilled person carries out the screening.

It is unacceptable for the sake of a mother’s and her baby’s health to allow such an extraordinary level of such abnormalities to remain undetected, especially when the solution could be so easily at hand.

What is needed is a national screening programme for pregnant women, better training for ulstrasound personnel and national guidelines for those in the field of prenatal screening.

Prof. Malone makes the point that screening meant the screening of the entire population to establish those at the highest risk, not just for those identified as high risk patients.

While there was a higher risk of Down Syndrome in women over 35 years, more Down Syndrome babies were born to women under that age because more of them are giving birth.

For that reason, the use of age only as a criteria means that the majority of cases of Down Syndrome and other foetal abnormalities will escape detection.

Being able to detect other conditions early in a pregnancy, such as a congenital heart disease, would enable an inter-disciplinary coordination of care on stand-by at the time of birth.

Prof. Malone is speaking authoritatively from his vast experience and research into the use of ultrasound while in North America.

During that time he secured $15 million towards the FASTER trial in the field of obstetrics, which involved 35,000 women.

Data from that trial showed that earlier and more effective screening for Down Syndrome can be achieved with ultrasound.

The professor’s contribution should prove invaluable in this country and cognisance must be taken by the Government of the views he has outlined.