Newborn Screening Saves Lives

By Julie Naughton

When it comes to newborn tests, Nebraska ranks at the top of the class all year long - including during September, which is Newborn Screening Awareness Month. Nebraska is one of only 16 states that screen for all disorders recommended by the U.S. Department of Health and Human Services.?

Nebraska first began screening newborns in 1967, with a simple blood spot test requiring only a few drops of blood taken from a newborn's heel. Today, the newborn screen includes bloodspot, hearing, and pulse oximetry testing for critical congenital heart disease. The Nebraska newborn screening panel screens for all 35 disorders recommended by the U.S. Department of Health and Human Services, and is required by Nebraska law, as it can help prevent intellectual disabilities, brain and organ damage, seizures, stroke or other long-term problems. The program is administered by the Division of Public Health and screens, follows-up, and provides newborn screening awareness and education in order to help our youngest Nebraskans live better lives.?

Newborn screening is an essential public health program that identifies newborns with a genetic, metabolic, neurological, or other congenital disorder that may not be apparent at birth. If left untreated, newborn screening conditions may cause serious illness, developmental disability, intellectual impairment, or death. According to the Centers for Disease Control and Prevention, newborn screening is one of the top public health achievements in modern history.?

The first disease Nebraska screened for was phenylketonuria (PKU), an inherited metabolic disorder that some babies are born with. It's caused by a defect in the enzyme that breaks down the amino acid phenylalanine. It can be controlled with a low-protein diet and avoidance of the artificial sweetener aspartame (usually marketed as Splenda or Equal), which contains phenylalanine. However, it's critical that the diagnosis is made at birth, before symptoms begin. PKU can cause severe intellectual and developmental disabilities if not treated very early, and when a baby shows the first symptoms, the damage is irreversible.?

Each year in Nebraska, approximately 60 babies are identified with a condition detected through newborn screening. The screening allows treatment to be initiated within the first few days and weeks of life, and for some diseases, this intervention means the infants will go on to lead normal, healthy lives. Screening has led to earlier detection and intervention in diseases such as sickle cell disease, spinal muscular atrophy, congenital primary hypothyroidism and cystic fibrosis, which has increased life expectancy and decreased the disease burden for many with these diseases.?

"We will forever be grateful to the scientists and clinicians who have worked so hard to develop, maintain, and advocate for the Newborn Screening Program," said Tiffany Moore, Ph.D, R.N, a mom in Elkhorn, whose son Jace was diagnosed with congenital hypothyroidism after his screening. He is now a thriving elementary school student. “They saved Jace's life.

The early hearing detection and intervention program is another part of newborn screening, done with specialized audiology equipment in birthing facilities. Although the hearing tests are not mandated by Nebraska law, screening for hearing loss in newborns enables infants to be diagnosed from a very early age. Prior to infant hearing screening, the average age a child was diagnosed with hearing loss in the United States was 30 months of age.

Hearing loss is an invisible condition and can be hard for parents to identify because children will react to social and environmental clues, and respond as if they can hear. A child may be able to respond to loud noises, however, even a mild hearing loss can impact your child's ability to develop normal speech and language skills

Hearing loss can also happen as your baby gets older. If your baby has risk factors for late onset or progressive hearing loss, it is important to have your baby's hearing checked often

For more information, visit:?https://dhhs.ne.gov/Pages/Newborn-Screening.aspx?or call (402) 471-6733.?