Each year, the Alabama Newborn Screening Program identifies approximately 200 babies with a metabolic, endocrine, hematological or other congenital disorder.
These babies usually look and act healthy at birth, but many of these conditions can cause serious health problems if undetected and untreated.
Thirty-eight conditions are included in the national Recommended Uniform Screening Panel, which is coordinated by the U.S. Department of Health and Human Services. Alabama’s screening program is overseen by the Alabama Department of Public Health.
This year Alabama added two disorders to its state screening panel, bringing the total to 35 of 38 conditions listed in the national RUSP.
Included conditions
Conditions included in the screen panel are listed below:
- Phenylketonuria (PKU): A genetic disorder where the body cannot break down the amino acid phenylalanine, leading to brain damage if untreated.
- Cystic Fibrosis: A genetic disorder that affects the lungs and digestive system.
- Sickle Cell Disease: A group of inherited red blood cell disorders.
- Congenital Hypothyroidism: A condition where the thyroid gland does not produce enough thyroid hormone, affecting growth and brain development.
Newborns are also screened for hearing loss and critical congenital heart defects.
An out-of-range newborn screening result does not necessarily mean that a baby has a condition but that further diagnostic or confirmatory testing may be needed, according to information provided by ADPH.
Partners in treatment
If a screening test result is out-of-range or presumptive positive, the Alabama Newborn Screening Follow-up Program will notify the baby’s doctor right away. The child’s community pediatrician, often in partnership with physicians at Children’s Hospital of Alabama, will help parents understand the condition and treatment or therapy options.
For example, congenital hypothyroidism (CH) is caused by abnormal thyroid gland development or function. Because thyroid hormone is essential for normal growth and brain development, CH must be diagnosed and treated as soon as possible after birth. Fortunately, with early intervention, CH can be easily treated with oral doses of thyroid hormone.
The Children’s of Alabama Pediatric Endocrine Department specializes in the follow-up care of infants who are diagnosed with CH. Working with the infant’s community pediatrician, Children’s of Alabama specialists help children get treatment and therapy as quickly as possible.
Children’s of Alabama’s Cystic Fibrosis Center works in partnership with the University of Alabama at Birmingham and the Cystic Fibrosis Foundation to provide care for approximately 290 children living with CF in Alabama and surrounding areas.
There is no cure for CF, but the earlier a child is diagnosed and treatment is begun, the healthier the child will be.
Early detection of these and other congenital conditions combined with early treatment can slow or even prevent long-term physical and mental development problems associated with a diagnosis.
EDITOR’S NOTE — For more information about the Alabama Newborn Screening Program, visit alabamapublichealth.gov/newbornscreening/parents.html. For more information about programs at Children’s of Alabama related to newborn screenings, visit tinyurl.com/AL-newborn-screening.
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