28th Oct, 2015
The advent of successful Pre-Implantation Genetic Diagnosis has been very encouraging for people at risk of passing on debilitating genetic conditions. PGD is an advanced fertility treatment which enables couples, who are at known 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 to the woman’s womb.
Recently, a healthy baby girl was born in Cork, free from the life-limiting genetic disorder Smith Lemli Opitz Syndrome, after undergoing PGD at Waterstone Clinic. The girl’s parents were both carriers of the gene mutation concerned and became aware of this when their first child died as a result of Smith Lemli Opitz. When both parents are carriers for this and, other similar genetic disorders, there is a 25% chance that any child will be affected.
The rare disorder is caused by a mutation in the gene that codes for the enzyme involved in cholesterol production. Cholesterol is an essential component of all cells and so an affected person will have problems with many different organs. This was 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.
This is the third healthy baby born as a result of PGD at Waterstone Clinic. In April of this year, baby Megan O’Connor was the first reported case in the world of a baby born free from the rare genetic condition mucolipidosis, after PGD using Karyomapping. In July 2014, Bridget Belle Cooke was born free from cystic fibrosis, after her parents underwent PGD treatment at Waterstone Clinic. Bridget’s father has cystic fibrosis and her mother is a carrier for the disease.
The ground-breaking technique has been very successful to date. 46% of couples treated using the complex technique at Waterstone Clinic have gone on to have a baby. PGD however is expensive and the cost is prohibitive for some couples.
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. There is no reason why we could not have a similar programme in Ireland.
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.
It is my sincere hope that the new government will take steps towards providing financial assistance for couples at risk of passing on genetic disorders who would benefit from PGD treatment.
Dr. John Waterstone