States Pennsylvania

Conditions Screened

Pennsylvania currently screens for 61 conditions

The Pennsylvania Program

Each state runs its program differently, for more detailed information please visit their website here.

Download Brochure

Here is a brochure for the state of Pennsylvania. Brochure »

What Conditions are Screened For in Pennsylvania?

Hemoglobin Disorders

Lysosomal Storage Disorders

Contacts

Pennsylvania Department of Health’s Newborn Screening and Follow-Up Program

1-717-783-8143

Division of Newborn Screening and Genetics

Pennsylvania Department of Health
7th Floor East, Health and Welfare Building
625 Forster Street
Harrisburg, PA 17120-0701

Jennifer Bixler
Director
Division of Newborn Screening and Genetics
Pennsylvania Department of Health
7th Floor East, Health and Welfare Building
625 Forster Street
Harrisburg, PA 17120-0701
Phone: 717-783-8143
Email: [email protected]

Joseph Wagner
Program Manager
Division of Newborn Screening and Genetics
Pennsylvania Department of Health
7th Floor East, Health and Welfare Building
625 Forster Street
Harrisburg, PA 17120-0701
Phone: 717-783-8143
Email: [email protected]

Patricia Alexander
Newborn Screening Coordinator
Division of Newborn Screening and Genetics
Pennsylvania Department of Health
7th Floor East, Health and Welfare Building
625 Forster Street
Harrisburg, PA 17120-0701
Phone: 717-783-8143
Email: [email protected]

Follow-up Program

Jordan Shover, Program Manager
Division of Newborn Screening and Genetics
Pennsylvania Department of Health
Floor East, Health and Welfare Building
625 Forster Street
Harrisburg, PA 17120-0701
Phone: 717-783-8143
Email: [email protected]

Early Hearing Detection and Intervention

Mark Beall, EHDI Program Administrator
Division of Newborn Screening and Genetics
Pennsylvania Department of Health
7th Floor East, Health and Welfare Building
625 Forster Street
Harrisburg, PA 17120-0701
Phone: 717-783-8143
Email: [email protected]

Search Educational Resources

Looking for resources? Check out our Newborn Screening Education and Training Resource Center.

VIEW RESOURCES

About Newborn Screening in Pennsylvania

Program Overview:

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 10 dried blood spot conditions and a mandatory supplemental panel consisting of 24 dried blood spot conditions. As a result of screening for these conditions, all conditions listed on the federally recognized Recommended Uniform Screening Panel are screened for. To learn more, please go to Pennsylvania Newborn Screening Website: Newborn Screening (pa.gov).

How is Newborn Screening Paid for in ­ Pennsylvania?

Pennsylvania does not charge a fee for the mandatory newborn screening panel. 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 supplemental 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 supplemental panel.  Pennsylvania offers a waiver program for those families that meet economic hardship criteria based on federal guidelines.

Policies and Resources

Opt-Out:

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 by submitting a signed parent refusal form.

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 Newborn Screening program work partners with the PA Early Intervention Program to ensure babies and young children with developmental delays and disabilities receive timely referrals and evaluations.  Early Intervention provides support services including speech therapy, physical therapy, and other types of services based on the needs of the child and family.

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 maturity.

To see a copy of the blood spot card used in Pennsylvania click here.

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