Your Baby’s First Step? Newborn Screening

For a baby, modern medicine’s prick on the heel and speedy shuttling of bloodwork to a lab can utterly change a life to be led. In the case of children like Sam and Louis, one will lead an independent life, the other will always be dependent on care—all because of the age at which a condition was found and treated. (See accompanying story.)

To try and avoid such scenarios, each state has a department of health that screens for disorders. For example, the Utah Department of Health (UDOH) screens for 39 primary conditions (44 conditions in total). Thirty-four of those are part of the national Recommended Uniform Screening Panel (RUSP) set by the Secretary of the U.S. Department of Health and Human Services and the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). Because ARUP is based in Salt Lake City, it partners with the UDOH, conducting tests for all but nine of Utah’s 39 screened conditions.

After the infant’s heel is quickly pricked and the blood arrives at ARUP, specialized laboratory technicians in the Biochemical Genetics (BCG) and Newborn Screening laboratories start looking for any red flags. “We’re looking for metabolites [substances that are intermediates or final products of metabolism]– characteristics of the disorders screened–they are mainly amino acids and acylcarnitines and are present in abnormal concentration in patients with a metabolic disorder. An abnormal screen result is followed up by confirmatory testing,” says Rebecca Guymon, supervisor for BCG and Newborn Screening.

Some of the conditions ARUP screens for include PKU (phenylketonuria), a metabolic disorder that can cause a build-up of phenylalanine and related metabolites in the blood, resulting in severe development delay and other metabolic conditions that can shorten or drastically hinder a life if left undetected and untreated.

Newborn screens can vary greatly by state—from the conditions tested to the screening method and the algorithms used to evaluate whether a result is “abnormal” or “normal.” Certain conditions are listed on the federal government’s RUSP and their screening has been implemented in all states. These include PKU; cystic fibrosis; and congenital hypothyroidism, which can lead to intellectual slowdown and delayed growth if not discovered in the first two weeks of a child’s life.

When many states screen for a certain disease, looking at their pooled populations provides more information for research. For example, GAMT deficiency occurs with an incidence of 1 in 120,000. With a Utah birthrate of about 50,000 a year, researchers wait longer to find a case they can prospectively identify and treat. “1 in 120,000 does not mean that one baby with this disease will be born exactly after 120,000 babies are born. If more states screened for GAMT deficiency, the potential to identify at least one case of GAMT deficiency every year will increase,” says Dr. Marzia Pasquali, medical director and section chief of Biochemical Genetics and Newborn Screening, ARUP.

ARUP’s collaboration with the Utah Department of Health has improved the department, says Kim Hart, the DOH’s Newborn Screening Program Manager. “ARUP is able to provide some excellent medical interpretation of results and having a truly passionate partner to work with is important—Dr. Pasquali sleeps and breathes newborn screening.”