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Screening newborns, saving lives

By Dr. Stephen Amato from June 2014 Issue

We're lucky today to have the ability to screen newborns for many diseases and disorders that would have caused severe disabilities or even death in the past. This screening is mandated by law for all newborn infants in every state.

What is newborn screening?
Newborn screening traditionally describes a heel-stick blood spot that every newborn receives after delivery. The health problem that originally prompted the newborn screening program was phenylketonuria (PKU), a metabolic genetic disorder in which the body cannot metabolize the amino acid phenylalanine. Newer technology has expanded newborn screening to include other disorders.

What disorders does the screening look for?
There are three components to newborn screening in Kentucky. By blood spot, Kentucky screens for more than 40 disorders, including cystic fibrosis, thyroid problems, abnormalities of fatty acid or amino acid metabolism, and enzyme and hemoglobin abnormalities. Kentucky also requires testing for deafness and for certain kinds of congenital heart diseases.

Does this testing catch all problems?
Newborn screening does not check for every possible biochemical disorder, and children with some of these conditions may not have abnormal test results. Also, some normal infants may show abnormal levels of a biochemical substance at the time of screening, also called a false positive.

What are the most commonly diagnosed newborn disorders in Kentucky?
The most commonly detected disorders are hypothyroidism and hemoglobin abnormalities. Untreated hypothyroidism can lead to irreversible mental retardation. Sickle cell disease, the major hemoglobin abnormality, has a 3 percent mortality rate in the first year of life if it's not treated.

Other conditions that appear in Kentucky babies are PKU (about 1 of every 11,000 infants), which can lead to irreversible mental retardation if untreated; galactosemia, which leads to severe jaundice and death without treatment; and a fatty acid metabolic condition called MCAD, which can be fatal to infants.

What happens if the newborn screening returns an abnormal result?
If there is an abnormal result, the family will be contacted by their child's physician and the newborn screening specialist involved with the specific disease. The infant is often taken to see a specialist immediately.



DR. STEPHEN AMATO is chief of the Division of Genetics and Metabolism at University of Kentucky HealthCare.