REQUIRED SCREENINGS FOR NEWBORNS: WHAT IS ALL INVOLVED?

REQUIRED SCREENINGS FOR NEWBORNS: WHAT IS ALL INVOLVED?

Some Screenings Require Follow-up after Baby's Release

Author: Family Health Services Staff/Wednesday, September 6, 2017/Categories: Home Page, Press Release, NEWS

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September is Newborn Screening Awareness Month. For over 50 years, all newborn babies have been required to have certain screening tests performed, usually within 24 to 48 hours of their births, before they can leave the hospital.

The big momentum shift came in 1963, when Dr. Robert Guthrie led the way on a paper that described a simple testing method for PKU, the common name for Phenylketonuria; an amino acid disorder where the enzymes do not work properly in breaking down proteins from the foods a person eats. This can especially make a child susceptible to major problems when ingesting dairy products, which means extreme trouble when it comes to newborns.

Once Massachusetts passed a law requiring the metabolic screening for PKU, other states followed. Today, in Illinois, newborns are required to be screened for over 40 conditions; most of which are metabolic disorders that can have devastating effects on the child’s health when undetected and untreated. As Sylvia Muniz, Registered Nurse and Program Manager for the High-Risk Case Management Program at the Will County Health Department explains, the screening involves a simple blood test from the baby’s heel.


“There is special filter paper with about six circles on it, each one about a half-inch in diameter,” Muniz described. “The blood is placed in each circle and sent off to IDPH labs for analysis. In addition to PKU, they use this method to screen for conditions such as cystic fibrosis, congenital hypothyroidism, or sickle cell anemia. If any of these results come back abnormal, the family is contacted for additional testing and follow-up.”

Other required newborn screenings are handled in a different manner. Muniz says a notable example would be the one for critical congenital heart disease (CCHD). “Some heart defects may not be obvious in utero or at birth,” Muniz said, “but there could be extra openings in the heart causing the oxygen levels in the blood to vary. The non-invasive screening involves placing a pulse oximeter probe on 2 different limbs to detect any discrepancies in blood oxygen levels prompting additional testing, like an echocardiogram.”

Hearing screening tests are also a part of the newborn screening program in the State of Illinois. “An actual hearing screening test with special devices for newborns is conducted in the hospital prior to discharge,” Muniz explained. “It is important for families to remember that the screening is meant to be an alert for additional testing. A result that raises concern could be for something as simple as excess fluid in the ear canal, or it can be a sign of a more severe problem. But for any abnormal results follow-up hearing tests are needed after the baby is discharged from the hospital.”

Muniz pointed out that families need to realize the importance of completing those newborn hearing screenings. “This is an extension of what was started at the hospital. It doesn’t cost them anything to complete it. You can’t just say, ‘If I make a noise, he or she reacts.’ If a child has a hearing disability it affects their developmental, speech, and social skills. Who wouldn’t want the best for their baby?”

Muniz says that because many follow-ups occur after a baby goes home from the hospital the parents may forget, or simply not want to know if there is a problem. “The Illinois Department of Public Health notifies the Will County Health Department when a child needs follow-up with any of the newborn screening, including hearing and metabolic testing. Our staff of registered nurses then contacts the families and provides them with the information necessary to complete follow-up. This sometimes involves drop in visits at their homes.”

Muniz says that if any of these screenings discover a problem, the child can be accepted into the Will County Health Department’s High-Risk Case Management Program. “This involves six nurse visits in the child’s home prior to age two,” Muniz explained. “We provide support, guidance, and education to help that child reach their best potential.”

And if it becomes clear that the child will still need help after turning two years old, Muniz says the High-Risk Case Management Program recommends them to a new level of care. “We refer them to Early Intervention Child and Family Connections of Joliet. It’s a state funded program that acts as a go-between, and they connect the child and their family with a speech pathologist, a physical therapist, or whatever they might need.”

Although these newborn screenings began with PKU in the 60s, many of the required ones are rather new. Muniz pointed out that in Illinois the critical congenital heart disease screening was added to the required list in 2013, while the required hearing screening goes back to 2002.

The latest required screening test added in Illinois in February of 2016 was the one for Mucopolysaccharidosis Type-1, an enzyme disorder. There is a good bet that more will be added in the future, and also a good bet that Dr. Robert Guthrie is smiling somewhere today.

Muniz says there absolutely could be more required screenings. “As technology continues to get better, there will certainly be more. And of course, we must admit, state by state, a lot of it comes down to cost.”

For more on newborn screening requirements in Illinois, go to the State Health Department Website at http://dph.illinois.gov/topics-services/life-stages-populations/newborn-screening.


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The Family Health Services Team strives to improve the quality of life by promoting health and preventing illness through education and exceptional client-centered services to the diverse community of Will County.
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