The first baby born using the IVF technique that checks for genetic diseases is doing well, the parents say.
Carmen, the mother of baby Lucas Meagu, had inherited the rare form of muscular dystrophy, Charcot-Marie-Tooth disease, from her father. He had suffered from the illness all of his life.
As such, any children Carmen had with her husband Gabriel would have had a high risk of inheriting the disease.
The disease causes weakness of the muscles below the knees which makes walking difficult. It can also lead to loss of feeling in the fingers and legs.
Mrs Meagu only suffers mild symptoms but was told by specialists that there was a 50% chance she could pass on the disease to her children.
“For me the risk was too high,” she told The Telegraph. “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, 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.”
Mrs Meagu went to the clinic and thanks to a pioneering technique known as karyomapping, her son Lucas was born free of the disease.
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.”
Typically embryo testing can take months of work in the laboratory, but this latest technique requires only a fortnight and can rule out a number of debilitating diseases.
In order to pick up the genes responsible for Charcot-Marie-Tooth disease, doctors had to take swabs from Mrs Meagu, her mother and Lucas’s father Gabriel, 30, and isolate the DNA.
Then, gene sequences at 300,000 different points of the chromosomes were compared so that they could pinpoint which section of genetic code was defective and responsible for the abnormality.
Mr and Mrs Meagu then underwent IVF treatment, but, most importantly, their embryos were screened to discover which ones did not have the inherited disease. The embryos also underwent other health-checks, such as making sure they had the right number of chromosomes, and developmental disorders, such as Down’s syndrome.
The IVF treatment started in December 2013 and Lucas was born a happy and healthy boy year later.
Mrs Meagu said: “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 mothers, 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 was originally pioneered in London clinics, is now available on the NHS. Experts state that there is a greater success rate with this type of IVF treatment, as typically the people who undertake it are not suffering from fertility problems. They therefore have a better chance of getting pregnant.
During the first round of IVF, Mr and Mrs Meagu froze two more embryos and are planning to have at least one more child within the next five years.