In Vitro Fertility Goddess

IVF Genetic Risks

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Over the past three decades, IVF has been proved to be safe in helping so many couples give birth to millions of healthy babies who go on to develop normally. Then you have IVF offsping who go on to give birth to their own children without using the technique, as it was for Louise Brown, the world's first IVF baby, who now has a happy, healthy 2 year-old son of her own called Cameron.

But there has always been a question mark over whether subtle genetic changes could emerge in an embryo that is grown for several days in a petri dish, the first home to IVF embryos.

Well, some tentative answers are starting to emerge.

The focus here is not on the chances and risks associated with multiple births. No, these new studies look at whether the technique triggers mutations in gene expression or in the child's future development.

Indeed, some researchers have found that there could be some abnormal patterns of gene expression associated with IVF and a possible increase in rare but devastating genetic disorders. Studies have also found that IVF was linked to an increased risk of premature birth and low birth weight.

Late last year, the US Centres for Disease Control and Prevention published a study that revealed that babies conceived with IVF and ICSI have a slightly increased risk of several birth defects, including a malformed rectum, a cleft lip or palatea, a hole between the two chambers of the heart and an improperly developed esophagus.

But it is important to note here that the findings are considered preliminary, with the researchers insisting that IVF does not carry excessive risks given that there is a 3 per cent chance that any given baby will have a birth defect.

However, there are now calls for much larger and rigorous studies to follow IVF babies more thoroughly so the question ‘What is the chance that an IVF baby will have a birth defect?' gets a definitive answer.

The aim here is to give molecular biology researchers studying embryos grown in petri dishes a better knowledge of the process so they can both improve the procedure and allow couples to make more informed decisions.

Richard M. Schultz, associate dean for the natural sciences at the University of Pennsylvania believes there is "a growing consensus in the clinical community that there are risks" and that it is "now incumbent on us to figure out what are the risks and whether we can do things to minimize the risks."

But although the questions are well known, the debate has been largely limited to scientists according ton Dr. Elizabeth Ginsburg, the president of the Society for Assisted Reproductive Technology.

Dr. Ginsburg, who is the medical director of IVF at Brigham and Women's Hospital in Boston, says her centre's consent forms mention that there might be an increased risk for certain rare genetic disorders. But, she says, this hasn't stopped any of her patients going ahead with the procedure.
As for Richard G. Rawlins, the IVF director at the Rush Centres for Advanced Reproductive Care in Chicago, he admits that when he speaks to patients he never had them ask questions about growing embryos in a dish and the possible risk associated with that.

All this prompted Dr. Andrew Feinberg, a professor of medicine and genetics at Johns Hopkins, to start to investigate the absence of information about IVF risks eight years ago when he was looking into genetical changes that can lead to cancer.

His research centred on children with Beckwith-Wiedemann syndrome, which is characterised by a 15 per cent risk of childhood cancers of the kidney, liver or muscle among other serious ailments.

Dr. Feinberg went on to find that the syndrome was often caused by changes in the expression of a cluster of genes and that those changes also are found in colon and lung cancers. Children with those gene alterations had a 50 per cent risk of the childhood cancers. The normal risk is less than 1 in 10,000.

Then several mothers in the study who had had IVF asked him if it was possible that the fertility treatments they had undertaken would cause their children to contract Beckwith-Wiedemann?

That prompted Dr. Feinberg to investigate. His conclusion, which matched at least another half dozen other large studies, was that there were about 10 times more parents who had used IVF or related methods who has children with the syndrome than expected.

Another disorder caused by unusual gene expression is Angelman syndrome which is also suspected of being linked to IVF. The syndrome involves severe mental retardation, an inability to speak, motor defects and the lack of a cheerful disposition.

But even if these disorders are rare (Beckwith-Wiedemann occurs just once in 13,000 cases while Angelman is detected in one out of every 10,000 children), the question as to why would growing embryos in petri dishes elicit changes in gene expression remains unanswered. And if there are changes, how should laboratory conditions be altered so that those gene expression changes do not occur?

Let's hope that a serious empirical study on this issue is undertaken urgently. I would say that the best way to bring this about is to keep on asking your IVF doctor that very question on your first visit. This kind of pressure works miracles with the medical fraternity.

Sarah Williams