A Mum’s Perspective – Facing the prospect of abnormalities

In some pregnancies a mother may discover that her baby has a chromosomal disorder. In some cases these conditions can be passed down through the generations, but typically they are incredibly rare, one-off occurrences.

Some pregnant mums may be aware of, or have been close to, a situation involving someone they know who has been affected. It’s always a good idea to be informed if you think you might be at risk but try not to worry unnecessarily. Talk to your midwife, who will be able to support and guide you.

Here is one pregnant woman’s account of how she felt as she face her mid-term scan feeling that a chromosomal disorder was possible because of an event in her own family.

A mum’s perspective – chromosomal disorder in a baby and tough decisions

My sister found out during her first pregnancy that her baby had a chromosomal abnormality. It was detected in her baby at an early antenatal scan. She was offered a CVS test to investigate further. After taking time to think through the implications, and her concerns about having a needle put into her tummy to take the sample, she and her husband decided to go ahead. They knew that the procedure came with a small risk of miscarriage but as she was over 35 years old, they wanted to know as soon as possible if there was a problem with the baby.

A few days later, the results confirmed that their baby had the condition known as Edwards’ Syndrome. The news came as a real blow for them. A chromosomal abnormality was not something that they had expected. There were so many things for them to think about, but then, to make things worse, soon afterwards my sister experienced a miscarriage. It could have been that the baby miscarried naturally but they also had a niggling doubt that the CVS examination could have been the cause too.

It was a very sad time, as they tried to understand what had happened, come to terms with both events and to recover from their loss. It affected the whole family strongly, and I was deeply saddened for my sister and her partner.

Happily, they decided to try again the following year, and today, they are proud parents to my beautiful niece, who is a bouncing, bonny baby.

I suppose I hadn’t really considered the possibility that if I tried for baby with my partner that we could also be affected. So, it wasn’t until I became pregnant, and spoke to the midwife about my family history that the subject came up and I began to think that my baby might also be at risk.

I felt a real sense of what my sister had been through as my partner and I began to get a bit anxious and worried. After talking it through with my midwife and sister, I still couldn’t allow myself to think that everything would be alright. I just couldn’t relax. What if our baby wasn’t alright, what if our baby died, or I miscarried, if the baby was born, how would we cope and adjust to live with the condition as a family?

At times I was irrational with worry and at others I was able to be much more accepting and positive about the pregnancy. The midwife was very helpful and understanding. We talked a lot about how rare it was for a baby to have a chromosomal abnormality and that, although we had a history, the chances of my baby being affected were very small. My sister was a great support too and would often make me feel better by pointing out that she had felt the same when she was pregnant with my niece.

I went through some real soul searching about whether or not to have the CVS in order to get a diagnosis sooner rather than later. My partner and I spent so many evenings after work talking through the pros and cons of going ahead with it. In the end I felt emotionally drained with so many thoughts going through my head that we decided to fix a day when we would need to make the decision one way or another.

After reading everything I could find on the subject, seeking advice and talking through the risks, we both agreed that we would not have the CVS. We just didn’t want to put ourselves at the smallest risk of a miscarriage. Although we knew this would mean an agonising wait until the anomaly scan, we just didn’t want to compromise the pregnancy. Still it took a lot out of us and even after we made the decision, we both had doubts about whether or not we had done the right thing.

We made a pact with each other to try our best to not over-think the situation and to keep calm for the weeks leading up to the anomaly scan at 20 weeks. This wasn’t always easy but work, watching films and getting out of the house helped us to keep our minds off things for a while. But, as we started to get towards the scan, my worries began to surface again and I found it hard to concentrate on anything else.

In a way, it was a relief to get to the day of the scan and to know, one way or the other, about our baby’s health. As my partner and I were in the waiting room, it was hard not to notice how happy and relaxed so many of the couples looked. I kept thinking to myself how lucky they were. I know it seems silly and it probably wasn’t true for everyone anyway.

My partner and I were holding hands the whole way through the scan. I was grateful that the room was so dimly lit and the sonographer was very calm. Still, it felt like an age as she performed the scan. I felt nervous to look at the screen but when I did, I could see our baby sucking its thumb and moving about. I felt so happy to see my baby and so nervous, wanting everything to be okay.

The moment the sonographer started to speak, I tried to listen carefully but my heart was beating a bit fast and my head felt a little fuzzy. She had to repeat for me what she said. It was a tremendous relief when she told us that we had a healthy baby and no problems were detected

It wasn’t easy to live with me during those first few months but everyone around me was very patient and understanding. I feel so lucky now and my partner and I have decided to try to make the most of the rest of the pregnancy and to allow ourselves to properly relax. I can’t wait for my sister to meet her nephew too…