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Newborn Screening: Public Health Stories

Victor R. De Jesus, PhD Team Lead

Biochemical Mass Spectrometry Laboratory

Centers for Disease Control and Prevention

 

I find my work extremely rewarding because I know the vast majority of babies that have newborn screening conditions are identified early because of what we do. Our work is important because we are the only program in the world whose sole focus is on helping laboratories identify affected babies and make sure these babies are not missed, using the best science possible. To do this, we create testing samples for different newborn screening conditions.

 

One of the challenges in my work is anticipating and preparing for the next disorder that will be included in newborn screening. For example, I worked on developing testing samples for a group of newborn screening conditions called lysosomal storage diseases. In these diseases, babies do not have enough of a type of enzyme used to break down unwanted materials in the body. Before this, we made most testing samples by adding extra ingredients. For the lysosomal storage diseases, we had to make testing samples that were missing the enzymes. This required new techniques, which took about a year and half to develop. Now we’re using those techniques to provide the test samples labs use to make sure the way they test for these diseases provides correct results.

 

I think that parents should know about the benefits of newborn screening and not be afraid of their baby being tested. Through newborn screening, families receive a clear benefit, in both the short and long term. Affected babies have a better chance at a healthy life. Not knowing about a newborn screening condition can lead to death or severe disabilities or developmental delays. This five-minute test can make the difference between life and death.

 

Learn more about newborn screening:

www.cdc.gov/features/ScreeningNewborns/ www.cdc.gov/spanish/especialesCDC/PruebasRecienNacidos/

www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html

www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html

www.cdc.gov/labstandards/nsqap.html

www.cdc.gov/ncbddd/hearingloss/index.html

www.cdc.gov/features/sicklecelldisease/

 

 

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Uploaded on September 20, 2012
Taken on April 30, 2008