Environmental Health Lab Supports Newborn Screening in the U.S.

January is National Birth Defects Prevention Month. NCEH’s Environmental Health Lab provides materials, resources and quality assurance that state labs use to screen newborns’ blood for possible disorders.

A bouncing baby makes us all smile. And CDC is doing its part to help keep those babies happy and healthy.

Within 24 to 48 hours of a child’s birth, a nurse takes few drops of blood from its heel and sends the dried blood spots to a laboratory to be analyzed. This process, known as newborn screening, is one of the nation’s most successful public health programs.

The Laboratory Role in Newborn Screening

State laboratories across the country screen virtually all babies born in the U.S. each year for disorders that are often not apparent at birth. If not quickly detected and treated, some of these disorders can cause serious problems, including mental retardation and premature death. When screening suggests a disorder, parents are notified and referred to a health care provider to confirm the diagnosis and begin treatment as needed.

CDC established the Newborn Screening Quality Assurance Program (NSQAP) in 1978. NSQAP is the world’s only comprehensive program devoted to quality assurance of newborn screening using dried blood spots. The program provides comprehensive quality assurance resources to newborn screening labs in the U.S. and worldwide. These resources include

• training
• technical consultation
• proficiency testing
• guidelines
• reference materials

The Newborn Screening Process

Newborn screening begins with a heel stick that is done within 24-48 hours of a baby’s birth. A health care professional collects blood from the baby’s heel onto a filter paper card, which is the blood collection device. This card is sent to a newborn screening lab for testing.

One of NSQAP’s primary activities is to prepare dried blood spot reference materials for distribution to participating labs. Each year, NSQAP creates and sends out nearly a million dried blood spot reference specimens.

Working with manufacturers, NSQAP also tests all of the filter paper used in the blood collection devices before they are released for sale. The program tests thousands of strips of randomly selected paper each year. The filter paper needs to adhere to strict specifications so that the blood can be collected and analyzed correctly.

Dr. Carla Cuthbert is the branch chief of Newborn Screening and Molecular Biology Branch in CDC/NCEH that prepares the reference materials. She explains that while “newborn screening is more than a test, the [lab] testing process is actually very critical. You need to have some sort of evaluation to determine if an infant is at risk for a disease. We aim to offer appropriate leadership and expertise to ensure that the testing process is robust and reliable, providing high quality measurements—every day, for every test, on every baby’s samples.”