Over 20,000 expectant parents a year are told that their baby may have a genetic or structural condition. We provide parents with non-directive information and support before, during and after antenatal screening. We also provide training and support to help you provide the best possible care to every parent who faces a suspected or diagnosed fetal anomaly.

My story 

*Trigger warning*

I found out I was pregnant in December 2010 and we were over the moon. The 12-week scan in January went by without any problems and we were delighted to tell family and friends. We had booked a holiday abroad and realized we would be away when our 20-week scan was due, so we had a scan at 18½ weeks. This seemed OK, but as I was being scanned nearly twoweeks early they couldn’t ‘tick everything off’. We felt a little disappointed as it would have been nice to say all was fine before our holiday but we weren’t given any cause for concern.

My next scan, at 22 weeks, was very different. The sonographer was concerned about the baby’s measurements which were small, and that our baby’s heart chambers did not appear to be the same size. We were referred immediately to the Fetal Medicine department where another scan showed more issues; parts of the brain could not be identified, a femur measurement was below the lower centile for gestational age, and the list went on. They assumed Down’s syndrome despite the nuchal fold measurement being within normal range. I had an amniocentesis there and then and was told the results for the three main trisomies would be available in 48 hours but we’d have to wait three weeks for the full karyotype result. We were referred for a specialist fetal heart scan at GOSH and told that we may have to have a fetal MRI scan to look at our baby’s brain in more detail. We were in total shock, we just thought that our baby might have a heart condition that hopefully could have been sorted out at birth; we never dreamed there would be so many other problems to worry about. 

The initial amniocentesis results came back – our baby did not have Down’s, Edward’s or Patau’s syndrome. We were relieved but this posed more questions – what exactly was wrong with our baby, and more importantly, how would it affect his or her quality of life? The next few weeks were a blur – we went for the heart scan which showed our baby’s aortic arch was a mirror image of what it should be but assured us that this would have no bearing on its function. We started to feel that things might end positively. We had the fetal MRI scan in Sheffield. it was very scary and noisy being in the MRI machine and I could feel that the baby did not think much to it either. The scan confirmed that parts of our baby’s brain had not developed. The scanner said it was not her place to diagnose or offer a prognosis but that it probably pointed to a syndrome of some sort. 

We were still awaiting the full karyotype results, but we then had to attend yet another ultrasound. After the scan we sat down with three specialists: a neurologist, geneticist and our consultant. They said they did not know what condition our baby had; there were many problems, each of which in isolation would not normally present too much of an issue, but they had never seen them in this combination before. Because of this they were reluctant to give us a prognosis. They felt there would be mild disabilities but could not rule out major problems because they simply had never seen anything like this before. To hear three experts come to this conclusion was heartbreaking. We were told if we wanted to end the pregnancy, we needed to decide before the legal 24-week cut off (in two days’ time at that point). After that, they did not feel there would be sufficient evidence for a termination.

I remember sitting with one of the nurses who was very comforting and said whatever decision we made it would be the right one for us. That evening we decided we had to continue since they couldn’t confirm what our baby’s quality of life would be. We knew there were more results to come that may change the prognosis but they wouldn’t be available for another week at least and we had to make our choice now. I felt numb but we both agreed that we just couldn’t end things like this. We called the hospital the next day and told them our decision; they were very supportive and said they would be back in touch when the other test results came through.

We carried on with life as best we could, trying to feel positive about the decision we’d made. The following week my husband received a phone call from the geneticist. The full karyotype results were finally in and the news was not good. Our baby was missing a large part of Chromosome 13 which they called a ‘deletion’. It is so rare there is no name for this other than ‘Chromosome 13q deletion Syndrome’. It meant our baby would be profoundly mentally and physically handicapped. Based on this new information we were told that a termination after 24 weeks (I was nearing 25 weeks at this point) would certainly be allowed by the medical board. 

We made the heartbreaking decision to not continue with our much-wanted pregnancy and I had a TFMR the following day. Our baby boy was stillborn on Saturday 9th April 2011. We named him Michael Peter – after my father and father-in-law. We held him for a little while and the midwives took photos which I keep in his memory box along with his ashes. The summer following was a difficult time, but through the ARC Forum, Perinatal counselling from Petals, growing vegetables and the help of some very supportive family and friends we somehow got through it.

The following April saw the birth of our rainbow baby, James, born on my husband’s late sister’s birthday. James’s little sister Jessica followed 19 months later and our family is now complete. It is difficult to express how lucky and grateful we feel to have had two perfectly healthy children but we will never forget our first little boy and will tell the children about their older brother when the time is right. 

For others in similar situations, please take all the help you are offered, and don’t suffer alone, there are so many people out there who can help. Surround yourself with helpful people and avoid those who upset you – if they are real friends they will understand! The excitement and enjoyment of pregnancy was shattered for me and the next one especially was a very worrying time whilst we waited to see if our son had the same condition. Luckily it was not genetic so the chances were very remote; however, we could not help but worry until he was safely in our arms. With our daughter I still did not enjoy the pregnancy but it almost felt normal - almost. 

Wishing all the very best to all those in similar situations.