A pioneering IVF technique allows babies at risk from inherited illnesses to be born free of disease
Baby Lucas with his parents Carmen and Gabriel Photo: Geoff Pugh
9:00PM GMT 28 Mar 2015
Original link: http://www.telegraph.co.uk/news/science/science-news/11495591/First-baby-born-from-IVF-technique-which-eliminates-inherited-disease.html
The first baby has been born in Europe from a new IVF procedure that checks embryos for devastating genetic disorders.
Lucas Meagu was at high risk of inheriting a rare form of muscular dystrophy which would have left him with weak muscles making walking and everyday tasks difficult.
However, a ground-breaking technique which is being pioneered by fertility doctors in London has allowed Lucas to be born fit, healthy and free of disease.
Traditional embryo testing procedures require months of laboratory work but the latest technique, known as karyomapping, takes less than a fortnight and can pick up a range of diseases.
Lucas’ mother Carmen, 26, who works in recruitment, inherited Charcot-Marie-Tooth disease from her father who suffered with the illness all his life.
It causes weakness and wasting of the muscles below the knees and often those of the hands and can lead to loss of feeling in the fingers and legs.
Although Mrs Meagu only has mild symptoms, she was concerned that her children would inherit the disease and specialists warned that there was a 50 per cent chance she would pass on the illness.
“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.
Baby Lucas Meagu was at high risk of inheriting a rare form of muscular dystrophy
“I was told I could try and get pregnant and have a test at 16 weeks, 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.”
To isolate the genes responsible for Charcot-Marie-Tooth disease doctors took DNA swabs from Mrs Meagu, her mother and Lucas’s father Gabriel, 30, who works for Vodafone.
They then compared the gene sequences at 300,000 different points of the chromosomes to work out which section of genetic code was defective and responsible for the abnormality.
The couple then underwent a normal IVF cycle but, crucially, the embryos created from the procedure were biopsied to find out which ones were free of the genetic disease.
The test also checks that embryos have the right number of chromosomes, a common cause of miscarriage and developmental disorders, such as Down's syndrome.
The procedure started in December 2013 and Lucas was born a year later. He is now three months old, happy and healthy.
Mrs Meagu added: “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, which is now available on the NHS, gives renewed hope to parents who are concerned about passing on serious genetic faults to their children.
And because most people undergoing the procedure do not suffer from fertility problems, the chances of becoming pregnant are higher than usual IVF rates.
Mr and Mrs Meagu hope to grow their family within the next few years
Mr and Mrs Meagu froze two more embryos during the first round of IVF and are planning to have at least one more child within the next five years.
Fertility expert Paul Serhal, the founder of Centre of Reproductive and Genetic Health, 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.”
