Information for Health Care Providers
WHAT IS NEWBORN SCREENING?
Newborn screeningA screening test that looks for different disorders using a small sample of blood taken from a newborn’s heel. A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to figure out if the baby has a metabolic disorder. is a public health activity performed in every state. Currently, newborn screeningThe process of testing for disease in a person who does not show signs of having the disease (nonsymptomatic or asymptomatic person). The goal of screening is to catch the disease in its early stages. includes:
- Blood spot screening
This test screens newborns for different geneticRelating to (or due to) genes and heredity or the field of studying genes and heredity. and metabolic conditions including phenylketonuria (PKU)This is a group of birth defects found in some babies born to mothers who have PKU. Women with PKU who are not treated before or during pregnancy have a high risk of having babies with one or more of these health problems. Maternal PKU symptoms may include microcephaly (heads and brains that are very small), intellectual disability, heart defects, and low birth weight., medium chain acyl-CoA dehydrogenase deficiency (MCADD), and congenitalThis means ‘present at or before birth.’ It usually refers to health conditions or birth defects that are present in a baby at or prior to birth. adrenal hyperplasiaThis is an abnormal increase in the number of cells in a particular organ or tissue. It causes the organ or tissue to become larger than normal. (CAH).
- Critical congenital heart defects
Certain types of critical congenital heart defects (CCHDs) are screened for using a pulseA pulse is the throbbing of blood vessels created by the beating of the heart. It can most easily be felt in the wrist and neck. oximeter. The pulse oximeter is attached to the newborn after 24 hours of life and is positive if it is below a specific level.
- Hearing screening
A newborn’s hearing is screened via two different techniques: Otoacoustic Emissions or Auditory Brainstem Response. Both methods are performed after the newborn is about 12 hours old.
WHAT IS THE RECOMMENDED UNIFORM SCREENING PANEL?
The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children are a group of professionals and family advocates convened by the Secretary of Health. Their purpose is to review the evidence and public health impact of conditions that could potentially be added to the newborn screening panel. The committee then makes recommendations to the Secretary of Health about whether the conditions should be added to the panel. Conditions which the committee believes should be added to the newborn screening panel are part of the Recommended Uniform Screening Panel (RUSP).
For more information about the RUSP or the Committee on Heritable Disorders in Newborns and Children, go to: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/
WHAT CONDITIONS ARE SCREENED FOR IN MY STATE?
Although the Committee on Heritable Disorders in Newborns and Children makes recommendations on whether to include a specific condition on the newborn screening panel, each state decides for itself which conditions to include on their state newborn screening panels. As a result, state newborn screening panels differ slightly. To find out which conditions your state screens for, go to: web/stateProfile/input.action
WHERE CAN I FIND MY STATE’S NEWBORN SCREENING PROGRAM?
For contact information for your state’s newborn screening program, visit: https://data.newsteps.org/newsteps-web/stateProfile/input.action
WHERE CAN I FIND MORE INFORMATION?
Baby’s First Test is a family-friendly site with lots of information about newborn screening:
The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) is a data repository and great resource for newborn screening programs and providers: