by Annette Pinder

Newborn screening is a state public health service that reaches nearly four million babies born in the U.S. annually. According to Taosheng Huang, MD, PhD, Professor & Division Chief of Human Genetics, University at Buffalo; Medical Director of Genetics & Metabolism, Oishei Children’s Hospital; and Program Director of Clinical Cancer Genetics at Great Lakes Cancer Care Collaborative, “It is vitally important for all babies to be screened for serious conditions at birth in order to enable doctors to begin treatment early, to help prevent the potential harmful effects of these conditions.”

Newborn screening began in the 1960s when a scientist in Buffalo named Dr. Robert Guthrie developed a blood test that could detect the presence of a rare metabolic disorder in infants called phenylketonuria (PKU). Now, screening tests are available for more than 60 disorders. Most states screen for 29 of the 35 conditions recommended by the Advisory Committee on Heritable Disorders in Newborns and Children. However, New York screens for 53 disorders.

There are three parts to newborn screening — a heel stick (which is only mildly uncomfortable) to collect a small blood sample when an infant is 24 to 48 hours old, pulse oximetry to look at the amount of oxygen in the baby’s blood, and a hearing screen. Dr. Huang says, “Although newborn screening is not diagnostic for the diseases, if a screen is positive, parents are immediately notified, follow-up confirmatory testing occurs, and if there is a need, the doctors will initiate treatment immediately. Unless a parent opts out of testing for religious reasons, all babies born in the U.S. are screened.”

Parents do not have to make any special arrangements for their newborn to be screened, as the test is normally included in the forms for standard medical procedures. Parents sign this form upon arrival at the hospital for the birth of their baby. While screening test costs vary by state, health insurance and other programs typically cover all or part of the costs, and all babies receive newborn screening regardless of insurance.

According to, over 5,000 babies are born each year with one of the conditions included in state newborn screening panels. Most of these infants appear perfectly healthy at birth and come from families with no history of a disorder. Unfortunately, once symptoms appear, they are often irreversible, leading to severe health and developmental problems, or even death. Every baby born in the U.S. must undergo newborn screening before leaving the hospital because it is the only way to tell if a seemingly healthy infant has a rare and serious condition. Fortunately, most affected babies identified through newborn screening, and who receive treatment early, grow up healthy with normal development.

To learn more about newborn screening and screening tests in New York state, visit and the first Robert Guthrie symposium at For some great resources, visit Contact the NYS Department of Health with questions at 518-473-7552 or