A baby girl is the first in Ireland to be born free from Smith-Lemli-Opitz Syndrome, following PGD treatment. Both of her parents carry the gene for this rare inherited disease. She was born in Cork University Maternity Hospital in mid-September, after her parents underwent Pre-Implantation Genetic Diagnosis treatment at Cork Fertility Centre.

This is the first instance in Ireland of two people who are carriers of Smith-Lemli-Opitz Syndrome successfully using PGD to prevent it being transmitted to their child. The baby’s parents discovered they were both carriers when their first baby died of the genetic disorder. The condition is caused by a mutation in the gene involved in cholesterol production. A person who cannot make enough cholesterol will have problems with organs like the heart and kidneys.

Commenting on the latest birth, Cork Fertility Centre’s head of research and development, Dr Xiao Zhang said “We are really delighted for the couple. It is so important for us here at the clinic to be able to offer an effective PGD service, which requires a number of complex lab techniques to all function perfectly. The ultimate measure of PGD success is a healthy baby.”

This is the third healthy baby to be born following successful  PDG treatment at Cork Fertility Centre, which is reporting that 46% of couples treated using this complex technique have gone on to have a baby.

The Centre is one of only two clinics in Ireland licensed by the HPRA (Health Products Regulatory Authority) to carry out PGD and, the first clinic in the country to have had babies born after PGD treatment. PGD is only available to people at risk of passing on certain life-limiting and debilitating conditions.

The success of the technique has prompted Cork Fertility Centre’s medical director, Dr John Waterstone, to call for State funding for the progressive treatment.  “The advent of successful PGD has been very encouraging for people at risk of passing on debilitating genetic conditions. PGD however is an expensive treatment. I believe the government should provide financial support for couples at genetic risk.

Preventing the inheritance of conditions like cystic fibrosis and muscular dystrophy would not only ease the pain and suffering of many children, but would also help reduce the spend on future healthcare services.”

In the UK, clinics licenced to carry out PGD can apply for funding for a couple needing the treatment, provided they meet the appropriate medical criteria.

PGD is an advanced fertility treatment which enables couples who are known to be at risk of a specific genetic condition to avoid passing it on to their children. The couple conceive by means of IVF treatment; and embryos selected by the process are genetically tested before being transferred.

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