Sunday, February 10, 2013

February 10, 2013 - Congenital Heart Defect Screening

The following excerpts or paraphrases are taken directly from the Center for Disease Control at http://www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html.

Screening for Critical Congenital Heart Defects
Congenital heart defects (CHDs) account for nearly 30% of infant deaths due to birth defects.  In the United States, about 7,200 (or 18 per 10,000) babies born every year have critical congenital heart defects,  which usually require surgery or catheter intervention in the first year of life. CCHDs can potentially be detected using pulse oximetry screening, which is a test to determine the amount of oxygen in the blood and pulse rate. Pulse oximetry screening is most likely to detect seven of the CCHDs. 

The Importance of Screening for Critical Congenital Heart Defects
Some babies born with a heart defect appear healthy at first and can be sent home with their families before their heart defect is detected. It is estimated that about 300 infants with an unrecognized CCHD are discharged each year from newborn nurseries in the United States.*** These babies are at risk of having serious complications within the first few days or weeks of life and often require emergency care.

Newborn screening using pulse oximetry can identify some infants with a CCHD before they show signs of a CCHD. Once identified, babies with a CCHD can be seen by cardiologists and can receive medications or surgery that can prevent disability and death early in life. 

When and How Babies Are Screened
Pulse oximetry is a simple bedside test to determine the amount of oxygen in a baby’s blood and the baby’s pulse rate. Low levels of oxygen in the blood can be a sign of a CCHD. The test is done using a machine called a pulse oximeter, with sensors placed on the baby’s skin. The test is painless and takes only a few minutes. Screening is done when a baby is 24 to 48 hours of age, or as late as possible if the baby is to be discharged from the hospital before he or she is 24 hours of age. 

Pulse oximetry screening does not replace a complete history and physical examination, which sometimes can detect a CCHD before the development of low levels of oxygen in the blood. Pulse oximetry screening, therefore, should be used along with the physical examination.

CCHD Screening Results
Basically, the test does not detect all CCHDs.  But if a baby fails the test - indicating that there is not enough oxygen in his or her blood - then a pediatric cardiologist can follow up with more tests, like an echocardiogram to figure out if there is a serious problem.  Babies who are found to have a CCHD also might be evaluated by a clinical geneticist. This could help identify genetic syndromes associated with CCHDs and inform families about future risks.

***This describes my nephew, Kyle, exactly.  He was deemed perfectly healthy and sent home from the hospital around 4 days old (he was delivered via c-section).  By 7 days old there was almost no oxygen circulating in his blood - he was sweating, breathing fast, and turned blue.  It is my understanding that his heart stopped beating and they revived him in the emergency room, which began the next few weeks of his fight to survive.*** 

It is important for expectant families to talk to their pediatricians and maternity wards about pulse oximetry screening before taking newborn babies home from the hospital.  

LMW 

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