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Pennsylvania Statutes Title 35 P.S. Health and Safety § 623. Newborn Child Screening and Follow-up Program

Current as of January 01, 2025 | Updated by Findlaw Staff

(a) In order to assist health care providers to determine whether treatment or other services are necessary to avert intellectual disability, physical disability or death, the department, with the approval of the Newborn Screening and Follow-up Technical Advisory Board, shall establish a program providing for:

(1) The screening tests of newborn children and follow-up services for the following diseases:

(i) Phenylketonuria (PKU).

(ii) Maple syrup urine disease (MSUD).

(iii) Sickle-cell disease (hemoglobinopathies).

(iv) Galactosemia.

(v) Congenital adrenal hyperplasia (CAH).

(vi) Primary congenital hypothyroidism.

(vii) Pompe.

(viii) Hurler Syndrome (MPS I).

(ix) Adrenoleukodystrophy (ALD).

(x) Spinal Muscular Atrophy (SMA).

(2) A birthing facility, certified nurse-midwife, unlicensed midwife or health care practitioner shall order the screening tests of newborn children for the following diseases:

(i) Isovaleric acidemia/Isovalery-CoA dehydrogenase deficiency (IVA).

(ii) Glutaric acidemia Type I/Glutaryl-CoA dehydrogenase deficiency Type I (GA I).

(iii) 3-Hydroxy 3-methylglutaryl-CoA lyase deficiency (HMG).

(iv) Multiple carboxylase deficiency (MCD).

(v) Methylmalonic acidemia (mutase deficiency) (MUT).

(vi) Methylmalonic acidemia (Cbl A, B).

(vii) 3-Methylcrontonyl-CoA carboxylase deficiency (3MCC).

(viii) Propionic acidemia/Propionyl-CoA carboxylase deficiency (PROP).

(ix) Beta-ketothiolase deficiency (BKT).

(x) Medium chain acyl-CoA dehydrogenase deficiency (MCAD).

(xi) Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).

(xii) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD).

(xiii) Trifunctional protein deficiency (TFP).

(xiv) Carnitine uptake defect (CUD).

(xv) Homocystinuria (HCY).

(xvi) Tyrosinemia type I (TYR I).

(xvii) Argininosuccinic acidemia (ASA).

(xviii) Citrullinemia (CIT).

(xix) Hb S/Beta-thalassemia (Hb S/Th).

(xx) Hb S/C disease (Hb S/C).

(xxi) Biotinidase deficiency (BIOT).

(xxii) Cystic fibrosis (CF).

(xxiii) Severe combined immunodeficiency disease (SCID).

(xxiv) Globoid Cell Leukodystrophy (Krabbe).

(b) Deleted by 2008, July 4, P.L. 288, No. 36, § 2, effective July 1, 2009.

(b.1) All laboratories performing the screening tests for newborn children shall report the results to the department for follow-up activities. The department shall provide follow-up services through the program relating to case management, referrals, confirmatory testing, assessment and diagnosis of newborn children with abnormal, inconclusive or unacceptable screening test results up to a newborn child's first year of life.

(c) No screening test shall be performed if a parent or guardian dissents on the ground that the test conflicts with a religious belief or practice.

(d) The department, with the approval of the Newborn Screening and Follow-up Technical Advisory Board, shall establish, by transmitting notice to the Legislative Reference Bureau for periodic publication in the Pennsylvania Bulletin, changes to the lists under subsection (a)(1) and (2) of those diseases for which newborn children shall be screened and laboratory screening results reported. Prior to making any change, the department and board shall jointly transmit a notice to the Legislative Reference Bureau for publication in the Pennsylvania Bulletin that establishes a public comment period of at least 30 days.

(d.1) The board shall consist of multidisciplinary members appointed by the secretary. The board shall include at least the following:

(1) An ethicist.

(2) Three pediatric physicians.

(3) A neonatologist.

(4) A genetic counselor.

(5) A hematologist.

(6) Two clinical geneticists.

(7) A nurse-midwife.

(8) A parent advocate.

(9) A representative recommended by a hospital association.

(e) Notwithstanding any provisions of this act or the act of April 23, 1956 (1955 P.L. 1510, No. 500),  1 known as the “Disease Prevention and Control Law of 1955,” to the contrary, test results and diagnoses based upon screening tests for the diseases listed in this section for newborn children shall be reported to the department. The department shall establish, by transmitting notice to the Legislative Reference Bureau for periodic publication in the Pennsylvania Bulletin, the method for reporting test results to the department.

(f) Test results for genetic diseases listed in this section and any diseases subsequently added by the department under subsection (d) shall be subject to the confidentiality provisions of the “Disease Prevention and Control Law of 1955.”

1 35 P.S. § 521.1 et seq.
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Cite this article: FindLaw.com - Pennsylvania Statutes Title 35 P.S. Health and Safety § 623. Newborn Child Screening and Follow-up Program - last updated January 01, 2025 | https://codes.findlaw.com/pa/title-35-ps-health-and-safety/pa-st-sect-35-623/

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