Genetic testing--SMA carrier testing results

sooner1981

My best friend and I worked with kids with muscular dystrophies for about 7 years through high school and college, and through that experience, we learned a LOT about these genetic diseases. When my best friend was pregnant, her doc. told her that every Caucasian has a 1 in 30 chance of being a carrier for Spinal Muscular Atrophy and if two carriers have a baby, the baby has a 1 in 4 chance of actually having the disease. She got the blood test to test if she was a carrier and she found out she was. Then her husband got tested and found out he wasn't, so they are very unlikely to have a child with SMA.

With this pregnancy, I decided to get tested as well, since it really is so common. My doctor gave me the results yesterday when I was at her office. She had just come in from a night of delivering 3 babies and having a gyn. surgery already that morning. She scanned the test and told me that they couldn't rule out carrier status, and that we should probably proceed with more genetic testing because I had "at least two copies of the SMN1 gene."

My heart sunk--but then I remembered what I had learned in high school about this condition and said, "well, isn't that supposed to be a good thing?" (SMA is usually caused by a deletion on a gene, not extra copies). She studied the report much more carefully, and it turns out I was right--I had actually tested negative, and the part she had read was just some "cover your butt, no test is 100% accurate and we can't be held liable if your baby is still born with a genetic condition" language at the end of the report.

CRAZY! We both laughed about it, but how crazy that a lab test is written so poorly that a very highly trained doctor can barely figure out the results!

MrsKocal

geez! i'd be slightly concerned that you picked up on that before your doctor did, lol. Glad to hear you aren't a carrier.  I am a carrier of the CF gene and had no clue until I was pg. Waiting for DH's blood results to come back was a terrifying few

sooner1981

Mrs.Kocal:

geez! i'd be slightly concerned that you picked up on that before your doctor did, lol. Glad to hear you aren't a carr

reederah

Wow, I would have never caught that. I'm glad you did!

yesthisiskim0401

I am also a carrier of SMA and praise The Lord after two long weeks of waiting we now know DH is not. I'm glad your test are negative and that your friends H'a were negative as well.