Screening Newborns for Congenital Heart Defects

November 5th, 2012 by Will Humble Leave a reply »

Our Newborn Screening Program (in the State Laboratory) ensures that each newborn is tested for 28 inherited disorders and hearing problems.   The goal is to help kids avoid illness, developmental delays and even death by quickly identifying problems and swiftly letting their doctors know so they can implement interventions.  On any given day our newborn screening team tests from 600 to 1,500 bloodspot samples for each of the 28 disorders. Our demographics team verifies the results and confirms all of the data associated with each sample as well as ensuring that lab results are sent out.  Our case management team follows up on about 140 potentially positive results (including hearing) each week, coordinates the confirmation test and works with pediatricians, clinical specialists and families.

The end result?  Because of the dedication and commitment of each member of the Team, hundreds of families have the opportunity for their newborn to receive the early treatment, intervention and support services that will allow them to lead normal lives.  Of course, none of this would be possible without the gasoline that runs the engine, the billing department brings in the dough that keeps this effective machine helping families every day. 

We’re looking into whether it makes sense to add a new test to the panel…  called Critical Congenital Heart Defects.  Newborn screening uses pulse oximetry (measuring oxygen levels in the blood through the skin) to identify some infants with critical congenital heart defects.  The approach can find signs of structural heart defects that are caused early in life.  Last year the HHS and CDC recommended that all newborns be screened for critical congenital heart disease using pulse oximetry.  Congenital heart disease occurs in approximately eight in every 1,000 live births…  and if left undetected, kids are at risk for the development of serious complications within the first few days or weeks of life.  We’re working through the costs for adding this to our required screening panel right now.  If it ends up making sense, we might add it to our proposed panel when we update our newborn screening rules in 2013.

For more info, check out CDC’s latest  Morbidity and Mortality or MMWR report which highlights Newborn Screening and Critical Congenital Heart Disease.

 

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1 comment

  1. Anonymous says:

    That’s great, Dr. Will Humble.
    I agree that earlier detection can save lives

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