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article imageFirst baby born clear of genetic illnesses after IVF – doing well

By Stephen Morgan     Mar 30, 2015 in Health
The first child in Europe to undergo treatment to eradicate inherited diseases in London is doing well. Results show that the child is healthy and free of a crippling family disorder, which his parents feared he would inherit.
The maternal side of the child's family suffers from Charcot-Marie-Tooth disease, which, despite its name, is a rare form of muscular dystrophy, which attacks the muscles around the knees and hands, causing loss of feeling and making walking difficult and painful. About 25,000 people suffer from the disease in the UK.
The child's mother – Carmen Meagu – suffers from it and her father spent years of agony and reduced mobility as a result of the disease.
Carmen said that although her symptoms were not as bad as her father's, she wanted to avoid her child inheriting it at any cost. Doctors confirmed that there was a 50% chance that the illness would be passed on to her children.
The Telegraph quotes Mrs Meagu as saying,
"For me the risk was too high," she said. "My dad had severe symptoms and it really got him down. He was unable to walk unaided and he always felt people were looking at him and staring. It had a massive impact on him mentally."
"I was told I could try and get pregnant and have a test at 16 weeks," she said, "but that really wasn’t an option for me because it would have been too hard to have an abortion at that stage."
"Then we were told about a clinic in London which could screen the disease out, and we felt we had to try."
Current testing of embryos takes months to complete, but the new method called karyomapping, can be done in less than a fortnight. Moreover, it is able to identify as many as 60 different types of genetic disorders at the same time.
According to RT,
"So-called Preimplantation Genetic Diagnosis (PGD) already exists, but is currently a cumbersome and expensive procedure. Doctors have to create a specific screening test for each couple, and the process takes several months, prior to any IVF treatments. Contrastingly, the new procedure is relatively simple, and can be completed within 24 hours, meaning it can happen concurrently with IVF."
In this procedure, the doctors began by taking DNA swabs from the baby's mother, in order to discover which parts of the genetic code were malfunctioning and causing the disease. Then the medical team compared the gene sequences of 300,000 different points on the chromosomes.
A-B-Z-DNA Side View
A-B-Z-DNA Side View
The couple were put through a normal IVF cycle and then doctors biopsied the embryos to identify which ones were free of the genetic disease.
The procedure is also capable of searching out things like Down's syndrome and other problems that can lead to miscarriages. In total, the procedure can screen for about 60 debilitating hereditary disorders.
The Telegraph quotes Paul Serhal, a fertility expert and founder of Centre of Reproductive and Genetic Health, who said:
“Essentially, karyomapping finds a fingerprint that is unique to the chromosome that carries the defective gene."
“It is then possible to test embryos produced using IVF for this presence of this fingerprint. Whenever the fingerprint is seen in an embryo it means that it has inherited the chromosome carrying the defective gene."
“By obtaining a blood sample form Carmen, her husband and another close relative, we were able to prepare their diagnosis in a matter of weeks."
“The test checked for Charcot Marie Tooth disease and at the same time for chromosomal abnormalities, such as Down’s syndrome, enabling us to avoid inadvertently transferring an embryo which may otherwise not have been viable. We were of course delighted to hear of the safe arrival of their baby.”
The couple have frozen two other embryos and plan to have another child by this method in the next five years.
Mrs Meagu told the press that,
“Lucas is absolutely perfect. He is really big for his age, and healthy. I have peace of mind now that he is going to be ok."
“I obviously worry, like all mother’s, but now I worry about normal things. I know for sure that he is not only free of Charcot-Marie-Tooth disease but also other illnesses."
“I would recommend it to any other mother who is worried about passing on an illness.”
The procedure, is now available free on the UK's state-run, National Health Service for all parents worried about passing on a serious family illness to their new borns.
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