What Conditions are Screened For in Pennsylvania?
Amino Acid Disorders
Fatty Acid Oxidation Disorders
Carnitine Uptake Defect (CUD)
Organic Acid Conditions
About Newborn Screening in Pennsylvania
Newborn screening in Pennsylvania is completed to ensure every newborn is tested for metabolic, endocrine, hemoglobin, other diseases that can be identified through dried blood spot testing, heart disease, and hearing loss. There are three parts to newborn screening: heel sticks to collect a small blood sample, a pulse oximetry to measure the amount of oxygen in the baby’s blood, and a hearing screening. These tests should be performed when babies are 24 to 48 hours old. If the baby was born in a hospital, the newborn screening tests will be completed prior to being discharged. If the baby was born at home or in a birth facility, the midwife or doctor attending the birth will provide information as to what steps need to be taken to have the newborn screening tests completed for the baby. Newborn screening does not confirm a baby has a condition. If the result of one of these tests is “abnormal,” the baby’s doctor and the family will be contacted immediately and additional testing will be needed. The Department of Health’s Newborn Screening Program’s goal is to eliminate or reduce mortality, morbidity and disabilities through screening and treatment of the disorders on the newborn screening panel.
In Pennsylvania, there is a mandatory screening panel which includes nine dried blood spot conditions and a mandatory follow-up panel which includes the remaining 23 core conditions on the Recommended Uniform Screening Panel (RUSP). To learn more, please go to the Pennsylvania's Newborn Screening website.
How is Newborn Screening Paid for in Pennsylvania?
Pennsylvania does not charge a fee for newborn screening. Screening for dried blood spot conditions on the mandatory screening panel are paid for by the Department of Health, through state appropriations. Conditions on the mandatory follow-up panel and point-of-care screenings (critical congenital heart disease and hearing screenings) are paid for by the hospital and are charged to insurance carriers. Individuals using a birthing center or a midwife for a home birth may be expected to pay for the point-of-care screenings and screenings for conditions on the mandatory follow-up panel. Check with your doctor or midwife to make sure you know what screens will be covered.
Policies and Resources
All newborns must participate in newborn screening unless the parents object on religious grounds. Health care providers must place a written statement of refusal, signed by the parent or guardian, in the child's medical record. Health care providers also must inform the Department of the number of patients who were not screened and must provide an explanation.
Support for families:
The Department of Health’s Newborn Screening program works closely with health care providers and treatment centers in the state to ensure newborns with abnormal newborn screening test results receive appropriate confirmatory diagnosis and treatment.
The Special Kids Network (SKN), in partnership with the Pennsylvania Elks Home Service Program, helps children and youth with special health care needs and disabilities get the services and support they require in order to thrive in their community and develop to their full potential. This is accomplished by: providing information on health care services and other resources by calling the SKN toll-free helpline (1-800-986-4550); offering service coordination to families through a partnership with the Pennsylvania Elks Home Service Program; supporting eight regional coordinators, who are all parents of children with special health care needs and disabilities to work in communities to identify service gaps and address the unique challenges of service systems.
Storage and Use of Dried Blood Spots:
After your newborn has been screened for all of the conditions, some blood will remain on the card, which is called a “residual dried blood spot.”
Pennsylvania retains the blood spot specimen for one year. The newborn screening laboratory, Department, or other entities involved in the newborn screening program may have access to test results during various stages of the newborn screening process and may not disclose any identifying information except to a parent or guardian or the designated health care provider. The Department of Health's contracted laboratory may not conduct research using the blood spot specimens.
Disclosure by the Department is permitted for the purposes of service delivery or with the consent of a parent, guardian, or screened individual who has reached the age of majority.