Prenatal Screening and Spina Bifida

December 21st, 2012

A little over three years ago, I learned that I was pregnant. I was young and it was unexpected and terrifying. I’ve always loved children, my own mother had me young and did an amazing job and I had an overwhelming amount of support! I could do it, because in the end it would be worth everything. I spent the first three months huddled on the couch with horrible morning sickness, quickly learning I was about to be a single parent and I thought the worst was over.

At the end of my first trimester I went for the integrated prenatal screen (IPS) a screen for abnormalities in the baby, Down Syndrome being the most common found. When deciding to do the test I did my research and learned that because of my age, family history and the fact that I am a healthy person the likelihood of anything being wrong was slim to none. The test was quite simple and non-invasive, a round of bloodwork, an ultrasound, and another round of bloodwork.

I went for the first set of bloodwork with my biggest fear being the bloodwork itself, I’ve always hated needles. I was ecstatic about the opportunity to see my little baby during the ultrasound. I forgot about the test entirely until the second set of bloodwork, then carried on as usual, I was confident nothing would be wrong, how could it be when the little baby in the picture was so perfect? The day I got the phone call my world stopped, the doctor needed me to come in to discuss the results, something might be seriously wrong, I couldn’t breathe.

I was a wreck the next 2 days waiting for that appointment. The results were in there was a positive for Spina Bifida, I knew what Spina Bifida was, and I knew what the future would look like if it was true. I was sent to a geneticist who asked about family history, and given a more accurate ultrasound. Then came more waiting.

It was by far the scariest and longest couple weeks of my life, weeks where I cried myself to sleep every night, where I broke out crying in class almost daily. Finally the appointment came where I saw the geneticist again for the official results. I had a slightly increased risk (0.37% when the average is 0.1 – 0.2%) but it was very likely my son would be born healthy!

Honestly there were still times I worried for him, I very rarely felt movements during my pregnancy, he was late learning to sit and he never really crawled. Today watching him run and play outside, I remembered that time when I was told he may never be able to do any of those things, it hit me with such force I found myself yet again crying over the results from that test. This time they were tears of joy, I am beyond thankful for my little wild man and his ability to run and play and be his wild self. I will never take it for granted, and when he’s old enough I will share this story with him so he too won’t take it for granted.

Every woman of child bearing age should be taking a multivitamin containing at least 0.4mg of folic acid daily. This reduces the chance of neural tube defects by approximately 70%. To learn more about Spina Bifida please visit http://www.cdc.gov/Features/SpinaBifidaProgram/index.html

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