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Home News Australia

Push to have women tested for Fragile X Syndrome ‘ethically troublesome’

byMark Bowling
4 August 2017
Reading Time: 3 mins read
AA
lab test

Ethical dilemma: If the only reason for a Catholic woman to be tested for FXS is in order to avoid or terminate the lives of affected children, I would not recommend it.”

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Ethical dilemma: If the only reason for a Catholic woman to be tested for FXS is in order to avoid or terminate the lives of affected children, I would not recommend it.”

A THORNY ethical dilemma surrounds a new push by doctors to have women screened for Fragile X Syndrome (FXS), linked to intellectual disabilities and the most common single genetic cause of autism.

Researchers at the Murdoch Children’s Research Institute and the University of Melbourne are recommending that women should be offered testing for FXS, an inherited genetic condition, if pregnant or planning to start a family.

It is understood about one in 250 women carry the gene, and most do so unknowingly.

Australian guidelines only recommend women be checked for FXS when there was a family history or if the patient requested it.

Research associate with Notre Dame University’s Institute for Ethics and Society Dr Megan Best said testing all women was fraught with problems.

“… The level of risk for an affected child is so unclear, making the outcome questionable and an informed choice difficult,” she told The Catholic Leader. “Furthermore, as more genetic anomalies are identified in the population, the more genetically imperfect children will be discarded, and we as a community are likely to become less tolerant of disability.”

The rationale behind this latest FSX screening recommendation is that, if found to be a carrier, a pregnant woman may check to see if a foetus is affected and, if so, elect to have an abortion; or a non-pregnant woman may choose to use IVF to screen affected embryos and discard those with FXS; or she may elect not to have children at all.

As part of the Murdoch Children’s Research Institute study, more than 1100 women were surveyed. It found 71 per cent of non-pregnant women and 59 per cent of pregnant women chose to be screened for FXS if offered.

Lead researcher Professor Sylvia Metcalfe said the results proved women were supportive of having the opportunity to be tested – using a simple saliva sample.

“What we have done is provide evidence for recommendations that all women should be informed about this condition and should be offered the screening,” Prof Metcalfe said.

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“Whatever decision someone makes on screening is entirely up to them and should be respected, but it is important they are given the information.”

The study’s co-author and Genetics Clinics Australia medical director Jonathan Cohen said doing the FXS test before a woman was pregnant was all about offering choices.

“They can still go down that path if they wish – they can get pregnant, get tested and terminate, or not terminate,” Dr Cohen said.

However Dr Best said the inheritance of FXS was complex, and just because a woman was a carrier of the gene did not mean she would have a child with the problems associated with FXS – anxiety, shyness, ADHD, autism, as well as learning and communication issues.

It is understood symptoms range from mild in girls to moderate and severe in boys.

“Furthermore, women who are carriers of FXS are thought to be more likely to have problems with infertility – so you may decide not to proceed with a pregnancy and then find you cannot get pregnant again,” Dr Best said. “Would you feel so strongly about the chance of a FXS-affected child if it were not between that and a normal child, but between that and childlessness?

“And all else aside, discarding human embryos through genetic screening in IVF, or aborting an affected foetus later in pregnancy, is ethically troublesome.

“To do so devalues the lives of those who are not physically perfect, yet still made in the image of God. If the only reason for a Catholic woman to be tested for FXS is in order to avoid or terminate the lives of affected children, I would not recommend it.”

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Mark Bowling

Mark is the joint winner of the Australian Variety Club 2000 Heart Award for his radio news reporting in East Timor, and has also won a Walkley award, Australia’s most-respected journalism award. Mark is the author of ‘Running Amok’ that chronicles his time as a foreign correspondent juggling news deadlines and the demands of being a husband and father. Mark is married with four children.

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