Wednesday, June 15, 2011

Research Wednesday - Newborn Screening

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Newborn Screening.

Around 48 hours after you have brought your precious little baby into the world, he/she is subjected to the "heel test" which I'm sure most parents remember their little one going through.  These tests are state-mandated and screen for somewhere around 30 different disorders that can result in early mortality or a life-long disability.  While each state tests for different disorders, currently, Fragile X is not on this list for any state. 

You can see the complete rundown for your state here:  National Newborn Screening Status Report

It's important to note, that other developmental delays such as Downs Syndrome and Spina Bifida require no formal screening as they are physically evident at birth.  Further, prenatal tests are offered to families for both of these disorders.  So, why not FXS?  Previously, it was because the testing wasn't as easily available as the newborn screening tests I talked about above.  Currently, the test is about $10 and there are method available to do the test as a blood drop just like the newborn screening tests.  (though, I do not believe this is available at every hospital currently)

Here are a few articles that deal with newborn screening and fragile x:
Should Babies Be Screened for Fragile X? (June 2011)
Discovering Fragile X Syndrome (Feb 2003)
Ethical, Legal, and Socal Concerns about Expanded Newborn Screening (Mar 2008)

Also, a seperate article about newborn screening in general: Newborn Testing

I think that those of us that understand Fragile X and the implications of a diagnosis are mostly in the same line of thinking when it comes to the issue of newborn screening for fxs.  That is, it should be offered as prenatal testing just the same as Down Syndrome and Spina Bifida are.  When it comes to actual new born screening though; it becomes much more difficult to say a firm yes or no, at least in my opinion.

Since this is my blog though; I will share my thoughts.  I think that newborn screening should be mandatory.  I understand that this has tons of implications when a positive diagnosis comes back; however, I do not feel that should be ignored.   Hand-in-hand with the offering of testing and educational materials during a pre-natal phase should leave parents knowing at least a little bit about Fragile X (or at least having the opportunity to know a little) should a positive diagnosis occur.   I will not deny it would be a shock to anyone; however, so would most any other disorder and in the case of Fragile X - early intervention is proven to be very helpful.  My other reasoning behind this thought, is that most children will need early intervention services and as those services are government funded, it seems very fair to me that the test be mandatory.

I cannot positively say an earlier diagnosis of Ayden would have made a difference, and just cannot go there. It really does not good to second guess decisions.  I do know now though that so many things I thought were just quirks about Ayden (some that were very frustrating at the time) were signs of Fragile X and at the very least it would have been helpful for me as a mother to not feel as if I was doing something wrong.

I'd love to hear other people's thoughts on this, especially those that read who don't have FXS children - so please feel free to comment!


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