DEPARTMENT OF HEALTH
Changes to the Mandated Newborn Screening and Genetics Screening Panels
[51 Pa.B. 80]
[Saturday, January 2, 2021]
Senate Bill 983 was passed on November 25, 2020, and will take effect on May 24, 2021. This act (P.L. , No. 133) amends the act of September 9, 1965 (P.L. 497, No. 251), known as the Newborn Child Testing Act (act) (35 P.S. §§ 621—625). This legislation was introduced to provide further definitions and provide for mandated screening and follow-up. This law mandates submitters (hospitals, midwives and birth centers) to screen for the following disorders:
I. Phenylketonuria (PKU).
II. Maple syrup urine disease (MSUD).
III. Sickle-cell disease (hemoglobinopathies).
IV. Galactosemia (GALT).
V. Congenital adrenal hyperplasia (CAH).
VI. Primary congenital hypothyroidism (CH).
VII. Glycogen storage disease type II (Pompe).
VIII. Hurler syndrome (MPS I).
IX. Adrenoleukodystrophy (ALD).
X. Spinal muscular atrophy (SMA).
XI. Isovaleric acidemia/Isovalery-CoA dehydrogenase deficiency (IVA).
XII. Glutaric acidemia Type I/Glutaryl-CoA dehydrogenase deficiency Type I (GA I).
XIII. 3-Hydroxy 3-Methylglutaryl-CoA lyase deficiency (HMG).
XIV. Multiple carboxylase deficiency (MCD).
XV. Methylmalonic acidemia (mutase deficiency) (MUT).
XVI. Methylmalonic acidemia (Cbl A, B).
XVII. 3-Methylcrontonyl-CoA carboxylase deficiency (3MCC).
XVIII. Propionic acidemia/propionyl-CoA carboxylase deficiency (PROP).
XIX. Beta-Ketothiolase deficiency (BKT).
XX. Medium chain acyl-CoA dehydrogenase deficiency (MCAD).
XXI. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).
XXII. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD).
XXIII. Trifunctional protein deficiency (TFP).
XXIV. Carnitine uptake defect (CUD).
XXV. Homocystinuria (HCY).
XXVI. Tyrosinemia type I (TYR I).
XXVII. Argininosuccinic acidemia (ASA).
XXVIII. Citrullinemia (CIT).
XXIX. HB S/Beta-thalassemia (Hb S/Th).
XXX. HB S/C disease (Hb S/C).
XXXI. Biotinidase deficiency (BIOT).
XXXII. Cystic fibrosis (CF).
XXXIII. Severe combined immunodeficiency disease (SCID).
XXXIV. Globoid cell leukodystrophy (Krabbe).
Fiscal responsibility for screening costs is as follows: the Department of Health (Department) will be responsible for the screening costs of disorders I—X as previously listed. The submitter will be responsible for the screening costs of disorders XI—XXXIV as previously listed. Prior to making any changes to the previous list of disorders, the Department and the Newborn Screening and Follow-up Technical Advisory Board (Board) will jointly transmit notification by means of the Pennsylvania Bulletin that establishes a public comment period of at least 30 days. Mandated screening and follow-up will at a minimum include: disorders previously listed; disorders added by the Board; and disorders listed in the Recommended Uniform Screening Panel by the United States Department of Health and Human Services. For screening of the disorders previously listed, and any disorders added to the newborn screening panel, the submitter is required to utilize and enter into agreement with the newborn screening laboratory contracted with the Department.
Additional amendments include changes to the definitions listed in the act and the consistency of the multidisciplinary members of the Board.
For additional information, contact Stacey Gustin, Director, Division of Newborn Screening and Genetics, at (717) 783-8143. Speech and/or hearing-impaired persons use V/TT (717) 783-6514 or the Pennsylvania AT&T Relay Service at (800) 654-5984 (TT).
RACHEL L. LEVINE, MD,
[Pa.B. Doc. No. 21-11. Filed for public inspection December 31, 2020, 9:00 a.m.]
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