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Putting our faith in genetic testing with PGD treatment

Posted on 11.5.15


Roisin and Barry were each carriers of the cystic fibrosis gene but could prevent their children from inheriting this genetic disease by PGD treatment. However, living in Ireland, meant they had many difficult decisions to make. They take up their story.

"‘Would you like the good news or the bad,’ said our Dublin fertility consultant, who was on the phone with our test results.

Faced with unexplained infertility problems and approaching the 40-year milestone, I’d been recommended to see a fertility specialist, but after numerous fertility tests there was still no explanation. However, after an analysis of our family histories we discovered that Barry was a cystic fibrosis (CF) carrier. This was always a possibility as Barry’s sister, Caroline, died from cystic fibrosis at the age of 18.

We both knew only too well what was involved in raising a child with cystic fibrosis.

Our consultant went on to explain that I too was a carrier of the gene mutation – but his good news was that something could be done about it with a treatment called preimplantation genetic diagnosis (PGD). However, it was not available in Ireland and we would have to travel abroad. The treatment would involve regular IVF with intra-cytoplasmic sperm injection (ICSI), with an added process of genetic analysis of the embryos to test for the abnormal cystic fibrosis gene.

We both knew only too well what was involved in raising a child with cystic fibrosis. I was a physiotherapist and Barry, a nurse with his own bitter experience of losing a sibling to cystic fibrosis. We continued to try to conceive naturally, even though we had a one in four chance of having a child with cystic fibrosis. But after unsuccessful attempts, our only option was IVF with PGD.

This was a controversial decision to make in Catholic Ireland, but being medical professionals, we had no problem accepting the wonderful technology of PGD. We researched clinics abroad and the Bridge Centre came up several times with excellent reviews from couples who had travelled from Ireland – and the pregnancy success rates were very impressive.

The process appeared very straightforward, and we only had to visit the clinic four times.

On our first visit we met and spoke at length with both Karen Sage, the clinic’s genetics counsellor, and Mr Summers, one of the clinic’s fertility consultants with extensive experience in fertility and genetics. We were very impressed with how thorough they were. Once all our health checks were up to date we were able to begin treatment.

After daily injections and numerous scans, which we were all able to do at home in Ireland, we were ready to fly to London for the egg collection and hopefully implantation. At egg collection we were delighted that 14 eggs were retrieved. Each day that week we received a call from Christian, one of the embryologists from the lab, to tell us how our embryos were coming along. It was a nerve-wrecking experience waiting on these calls, but we found his calm manner very reassuring.

On the first day Christian was able to tell us that nine embryos had been fertilised, with eight surviving well through the PDG procedure. By the end of the week he could tell us that three presented with cystic fibrosis abnormalities, three were carriers of the gene, and the other two were non-carriers.

When we presented for embryo transfer, however, we still had difficult decisions to make. First, would we be willing to accept two embryos? But also, as Mr Summers and Christian explained, the embryos at the best stage for implantation were carriers of the CF gene. How would we feel if these were transferred? Barry and I had already discussed this beforehand and knew that being a carrier did not mean a life of disease. So we accepted implantation of the two embryos.

Who would believe, we are now writing this watching our two beautiful, much loved and long-awaited daughters crawl about the floor. We cannot say the process wasn’t stressful, and I lost my father to cancer just as we were about to start treatment. But we found that regular massages and acupuncture and time together helped."

Do you want to find out more about genetic testing? For more information, please call 020 3819 3282 today to find out more.

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