NHGRI logo
Generic Chromosome DNA

​Newborn Genetic Screening

updated: May 10, 2022

Definition

Newborn screening is a set of laboratory tests performed on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel prick when the baby is two or three days old. In the United States, newborn screening is mandatory for a defined set of genetic diseases, although the exact set differs from state to state. Newborn screening tests focus on conditions for which early diagnosis is important to treating or preventing disease.



Narration

Newborn genetic screening. Mandatory newborn screening programs are a classic public health success story. These programs save lives and prevent disability in thousands of infants every year by identifying certain conditions promptly after birth. Early detection of those conditions allows different kinds of treatments and interventions to be provided very early in a newborn's life when it can really make a difference in health outcomes and even help to prevent severe, irreversible disability. The reason why some states include different tests in their screening programs is complicated. A decision has to be made about what test to include based on which ones will bring about the best health outcomes for newborns. The decision-makers also have to consider the costs and feasibility of screening, diagnosis and treatment and weigh that against the potential health benefits of each test.

Sara Hull
Sara Chandros Hull, Ph.D.

Director

NHGRI Bioethics Core