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Aurora magazine

Should prenatal screening be extended?

In recent years, the non-invasive prenatal screening tests for Down's syndrome are gaining ground. According to a study by the Murdoch Children's Research Institute (MCRI), other genetic tests should be added to this widespread test.

Fetal DNA tests for prenatal diagnosis of Down syndrome are offered to all women over a certain age. In the case of other genetic diseases, however, it is thought that the problem concerns only those who have had cases in the family. Yet fragile X syndrome, spinal muscular atrophy and cystic fibrosis have a risk rate comparable to that of Down syndrome, if put together.

Genetic tests for the three hereditary genetic diseases have been available since 2012. They are usually recommended to those who already suspect they are healthy carriers. A way of acting that neglects a large part of the population, perhaps unaware of their family history. The principal author of the study, Professor David Amor, believes that these tests should be available for all couples wishing to make a child.

From the data collected it emerged that 1 in 20 people among those analyzed is the bearer of one of the three genetic diseases. 88% of these individuals were not aware of the risk, as they were not aware of any case in the family. So none of them would have carried out the genetic test, if it had not been involved in the test.

Among the couples analyzed, 1 in 240 presented a high risk of transmitting the disease to the offspring. In addition, prenatal screening tests revealed the presence of one of the diseases in about 1 pregnant woman in 1000. These are comparable to the incidence of Down syndrome.