Spinal muscular atrophy (SMA) has been added to the Recommended Uniform Screening Panel (RUSP) for newborns in the United States, opening the door to newborn screening for SMA at the state level and earlier treatment of affected infants. Click here to learn more about this story.
So last year, I was pregnant with my first baby. I did a genetic screening during the pregnancy to find out if there will be any defects to be concerned about, and also to find out the sex. Results came back with nothing to report, except that our baby is a girl.
Fast-forward one year later, I take another genetic screening from the same company at the same OB office for my second baby to merely find out the sex, only to get a call two weeks later saying I am positive to be a carrier for SMA. Apparently it was added on to the genetic screening for prenatal care. I am so thankful to have found this out now rather than later, and I am SO glad that it is now added to newborn screenings, and apparently to genetic screenings during pregnancy. Since I knew sooner, I was able to get my daughter tested, and found out that, at 13 months, she has SMA Type 2. I will be getting an amniocentesis done with this current pregnancy to see if my baby boy will also have the disease.
Thanks for sharing. The advancements today really are amazing, and I’m glad your daughter was able to get tested eventually. Back when I was diagnosed in 95, there wasn’t any kind of genetic testing readily available. It’s come a long way since then.
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