- The ARC - California Edition -

Newborn Screening Celebrates Ten-Millionth Milestone

On May 18th of this year, there was a party held at the Genetics Disease Branch of the state’s Department of Health Services. The attendees were celebrating the ten-millionth baby having been screened by the California Newborn Screening Program. This state-operated program was initiated on October 1, 1980 and performs tests of blood samples for over 500,000 babies each year.

Nationwide, there is a system whereby each infant born in a hospital is tested to determine if they have inherited the metabolic disorder of Phenylketonuria or Galactosemia, or if they are impacted by the birth abnormality of Hypothyroidism. 

In California, the newborn screening program also tests newborns for a series of blood disorders, including sickle cell. 

This screening program has been very successful in identifying infants with these metabolic or congenital disorders. Since the state-operated program began in California during 1980, over 4,300 infants have been identified as having one of the disorders early in their lives. Thus treatment could be implemented BEFORE the babies brain has been damaged.

Phenylketonuria (PKU) is an inherited disease that, if left untreated, progressively damages the brain and causes severe mental retardation as the child grows. 

PKU affects the body’s ability to handle one of the amino acids that is found in all protein foods. If it is known that the infant has this disorder, the condition can be treated through a special diet and the damage is prevented.

Galactosemia likewise is inherited. This is a disorder where the infant is born lacking the ability to break down and convert galactose (a sugar compound found in milk products). 

The galactose of an infant’s food accumulates in and damages the cells and organs. This damage can lead to jaundice, severe mental retardation, retardation, growth deficiency, and even death. The disorder can easily be treated if it is known that the infant has the condition.

Hypothyroidism results from an inadequate supply of the thyroid hormone, thyroxine. If the condition is not known and therefore left untreated, the infant’s growth will be stunted, and mental retardation will occur from lack of stimulation of the brain by the hormone thyroxine.

These three disorders have some things in common. Clearly, they can easily be detected, and they can easily be treated resulting in the prevention of mental retardation and other serious damage. The testing for the three conditions utilizes the same dried blood spots.