Newborn Screening Trial

Here is some awesome news for Fragile X!

Rush University Medical Centre will be launching a program to screen all newborns for the Fragile X gene!  Researchers at UC Davis in Sacramento, CA developed a blood test that uses the small amounts of blood routinely collected in newborn screening.  The trial is expected to screen as many as 30,000 newborns in the next 5 years.

The screening is part of a $2.3 million program is being funded by the US National Institutes of Health (NIH).  The goal is to lay the groundwork for providing this screening to all newborns in the US.

Dr. Randi Hagerman & Dr. Elizabeth Berry-Kravis, both very important to the Fragile X community, are involved in this study.  The test to be used is an inexpensive polymerase chain reaction (PCR) technique that amplifies the expansion of the FMR1 gene, allowing researchers to detect the number of nucleotide repeats, from normal number of repeats to the full fragile X mutation of 200 repeats or more.

Remember – many carriers also expereince health, development & learning challenges too, so knowing that the baby carries an increased number of repeats can affect the entire family.  Parents will also be able to access therapists and early intervention programs sooner, or at least get on a “Waiting List” for those services.

I am so excited & hope that this trial will convince governments all over the world to fund this screening test!
I found this article at Medical News Today if you’d like to read the full text!

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3 thoughts on “Newborn Screening Trial

  1. Isn’t it cool?? Imagine a day where it is “Routine” to screen for this, just like PKU & that parents expect to be given results that are vital to their children. I can’t wait.

  2. We are very excited about this, Dr. Hagerman hopes that with the newborn screening she will get a lot of data from other babies for comparision to the work she has done with Holly, right now there isn’t alot about babies out there, and there also may not be an acurate reflection of the number affected, particulularly becuase there are so many undiagnosed girls.

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