Open spina bifida – what does this mean?

Many women see their mid-pregnancy anomaly scan as a chance to look at their baby as it kicks and twirls around. The possibility of finding out the sex, is also exciting, while some parents choose to keep this as a surprise.

But sometimes this mid-term scan brings an unexpected diagnosis. Here, one mother tells us about her experience of the mid-pregnancy scan.

Now you see me, now you don’t. An unexpected abnormality.

Up until my own anomaly scan, I considered that I was quite well-informed about birth defects and genetic abnormalities. Although I had no direct experience myself, my best friend’s little girl had been born with Down syndrome four years before. The pregnancy had been fine, no problems, so when Mia was diagnosed it was a huge shock. I remember hours in SCBU (special care baby unit) on the neonatal ward, surrounded by tiny plastic cots with wires trailing out of them and beeping machines. I remember the hushed silence around many of the cots and when I glanced in quickly, the baby was often no bigger than my hand. Mia wasn’t like that though, she was a normal newborn size and as a mixed-race baby she had the most gorgeous hair from birth. I saw how tough it was for my friend, but I adored Mia.

Fast forward four years to my own pregnancy, and from various conversations and time spent accompanying my friend to hospital appointments with Mia, I reckoned that I’d pretty much seen it all. The clinics were always full of children; some in wheelchairs with little or no muscle control and some who you wouldn’t think anything was wrong with them at all, until you spotted a slightly dysmorphic face. None of it bothered me though and I honestly think that was the start of my problems.

I didn’t even consider that my mid-pregnancy scan would be anything other than a chance to see my tiny, wriggling baby and perhaps find out the sex. I mean, in an abstract sense I knew that they were checking for abnormalities, but somehow my brain hadn’t made the next connection – how would I feel if there was something wrong with my baby? The thing that sticks with me most is the silence of the whole process. I was scanned in silence, then I waited in silence, whilst the sonographer fetched a doctor, and then I was re-scanned in silence.

What happened next has stuck with me for obvious reasons – and it went along these lines.

“What is it?” I remember asking. “What’s the matter?”

“It looks like your baby might have an abnormality,” the doctor replied, his eyes not leaving the screen. “I’m just checking to see what’s going on.”

“What can you see?”

“I’m not sure yet.”

I lay there for what seemed like an eternity, wishing I’d accepted my partner’s offer to take the day off work to come with me. He’d missed a week already that year so I’d said that I was fine to come on my own, especially considering that I had a private 4D scan booked for six weeks’ time. I thought this anomaly scan would be a quick in and out.

“Right,” the doctor said at last, “if you’d like to get dressed and come through, I can explain what it is that we think we’ve found.”

I nodded, “OK.”

I knew it was bad when I saw him wearing a sympathetic face.

“As you know, this scan is designed to identify any problems there might be with the pregnancy. This could be anything – the size of the baby, the placenta, the umbilical cord; we check it all.” There was a gentle pause. “From what I’ve been able to see today it looks like your baby might have something called spina bifida. Have you heard of this?”

“I – I think so,” I frowned, my brain racing ahead to try and untangle the indistinct knots of information I possessed about spina bifida.

He spoke slowly and plainly with little emotion in his voice – calm and reasonable, I suppose. “It occurs when there’s a problem with the development of the spinal cord. Open spina bifida means that a sac, known as a myelomeningocele, comes out through an opening in the baby’s spine because the bones of the spine haven’t formed properly. And it looks as if your baby might have this.” If I hadn’t been sitting down, I would have fainted. Blood roared in my ears and I felt my vision start to go, as dizziness swept over me.

“Right,” I managed to say. “And what – what does that mean?”

“It’s a complex issue,” the doctor said gently, “and the prognosis is different for each baby. It depends on the severity of the condition. Open spina bifida is the more serious type of this abnormality and sometimes it’s part of an overarching genetic problem. We can’t say whether this applies to your baby without further testing.”

“What sort of testing?”

The doctor flicked through my notes, “Have you had an amniocentesis?”

“No.”

“Well that’s the first place we’d start. We may also run blood tests and think about doing chorionic villus sampling. These things will tell us the likelihood of this being part of a wider genetic disorder. Even if it’s not, there are some associated problems.”

“Such as?”

“In around 70% of children, we see a build-up of cerebrospinal fluid in the brain, called hydrocephalus. It’s this type of thing which can affect the treatment that we offer you.”

“What do you mean?”

“With this diagnosis, you would be offered a termination.”

I shook my head, not meaning no, just in shock. “Is it that bad?”

“We don’t know without running further tests,” he told me. “It’s a reasonably common problem, around six babies out of every 1,000 will be born with spina bifida. Treatment after birth would involve an operation, the extent of which would depend on the size, position and complexity of the open spina bifida. Hydrocephalus is also treated with surgery. Without this, the extra pressure on the brain can cause damage.”

“What does this mean for me? My baby?” I had to force the words out, but I needed to know.

“It really depends on the severity, there are some changeable factors involved. A mild case would have fewer problems than a more severe one. Common issues are problems controlling bladder and bowels and severe spina bifida can also mean some children won’t be able to walk. The fluid on the brain can also lead to learning disabilities.”

“Right, and my baby…” I left the rest of the question unspoken in the air between us.

“Without further tests and scans, I honestly can’t say. I’m going to refer you to an expert in fetal medicine who will scan you again, and run more tests as appropriate, and then you should have a clearer picture. Should you opt for a termination, this would be carried out quite quickly. I’m sorry, I know this is an awful lot of information to take in.”

I glanced at the clock and saw to my surprise that an hour had passed since my scan ended. Just one hour and fifteen minutes ago my entire pregnancy had been turned upside down, totally removed from how I thought it would be. Feeling strangely calm, I thanked the doctor and left, clutching my maternity notes, his words spinning through my mind. I got back to my car and just sat there, staring at nothing, utterly disengaged with the world. I found my mobile phone and almost pressed the number, but I couldn’t. The minute I spoke the words would mean the end of my pregnancy as we knew it. With my partner unaware, I could slide from side to side – into and out of knowing.

Unbidden, an image of little Mia shot into my mind, her sweet face, always smiling, that crazy hair! Her slightly-poking-out tongue as she fixed her eyes on some project or other, and danced to her favourite music. I felt a sudden rush of love for my unborn baby and I cradled my bump protectively. I knew instinctively what I would do and with that thought fixed firmly in my mind, I started the engine.