The Pennsylvania Newborn Child Testing Act was amended via Act 133 of 2020 and went into effect on May 24, 2021. As a result of this Act, all diseases screened for via dried blood spots by the Pennsylvania newborn screening program are now mandated for screening. This list of disorders includes thirty-six core conditions recommended by the Health and Human Services committee that make up the national recommended uniform screening panel (known as the RUSP). In addition to the core conditions, Pennsylvania screens all babies for twenty-five medical disorders that can be detected in the differential diagnosis of the thirty-six core conditions.

Prior to Act 133, all babies born in the Commonwealth were screened for 10 conditions that were paid for through state appropriations. Birthing hospitals, birthing centers, and midwives in Pennsylvania had the option to elect which, if any, of the twenty-six supplemental conditions on the newborn screening panel they had their clients screened for. The Pennsylvania Newborn Screening and Follow-up Program (NSFP) was concerned with the existence of this screening inequity based on where a parent chose to deliver their child within the Commonwealth. Act 133 ensures every newborn in the Commonwealth has access to the same essential core condition screenings.

The NSFP also initiated a waiver program, in conjunction with Act 133, to assist families identified to have a financial hardship with the cost of screening for the additional twenty-six core conditions. Pa. home birth midwives successfully utilize the waiver program to ensure the cost of screenings are waived for their eligible clients.

In addition to screening for the RUSP conditions, Krabbe disease was also added to the Pennsylvania panel, making Pennsylvania one of the leaders in screening for this devastating neurodegenerative disorder. After just seven months of screening, four babies have been diagnosed with Krabbe disease. Thanks to the changes associated with Act 133, these children were identified prior to the development of symptoms and are being cared for by experts at a Krabbe treatment center. Act 133 will allow Pennsylvania to expand statewide screening in the future to include screening for any disorder added to the RUSP or added by the Newborn Screening and Follow-up Technical Advisory Board, ensuring babies born within the state benefit from the positive outcomes associated with early screening, diagnosis, and treatment.