PRINTER'S NO. 1675
No. 1421 Session of 1999
INTRODUCED BY O'BRIEN, GEORGE, COY, PESCI, ADOLPH, BEBKO-JONES,
BELFANTI, BUNT, M. COHEN, CURRY, DAILEY, DeLUCA, FRANKEL,
GEIST, HARHAI, JOSEPHS, KELLER, KIRKLAND, LAUGHLIN, LEDERER,
McILHINNEY, McNAUGHTON, MELIO, MUNDY, ORIE, RAMOS, SAYLOR,
SCHRODER, SERAFINI, SEYFERT, SOLOBAY, STABACK, E. Z. TAYLOR,
J. TAYLOR, TIGUE, TRELLO, TRUE, WALKO, WILT AND YOUNGBLOOD,
MAY 4, 1999
REFERRED TO COMMITTEE ON HEALTH AND HUMAN SERVICES, MAY 4, 1999
AN ACT
1 Amending the act of September 9, 1965 (P.L.497, No.251),
2 entitled "An act requiring physicians, hospitals and other
3 institutions to administer or cause to be administered tests
4 for phenylketonuria and other metabolic diseases upon infants
5 in certain cases," further providing for newborn child
6 screening and testing.
7 The General Assembly of the Commonwealth of Pennsylvania
8 hereby enacts as follows:
9 Section 1. Section 3 of the act of September 9, 1965
10 (P.L.497, No.251), known as the Newborn Child Testing Act, added
11 July 9, 1992 (P.L.398, No.86), is amended to read:
12 Section 3. Newborn Child Screening and Follow-up Program.--
13 (a) In order to assist health care providers to determine
14 whether treatment or other services are necessary to avert
15 mental retardation, permanent disabilities or death, the
16 department, with the approval of the board, shall establish a
17 program providing for:
1 (1) The screening tests of newborn children for diseases.
2 (2) Follow-up services relating to confirmatory testing,
3 assessment and diagnosis of newborn children with abnormal or
4 inconclusive screening test results.
5 (3) Annual review and update of current and new tests and
6 treatments to assure that available tests are included in
7 screening newborn children as these tests and treatments become
8 available.
9 (b) The department, with the approval of the board, shall
10 establish by regulation those diseases, in addition to
11 [phenylketonuria (PKU), maple syrup urine disease (MSUD) and
12 sickle-cell disease (hemoglobinopathies)] those diseases and
13 disorders listed in subsection (b.1), for which newborn children
14 shall be tested including all diseases nominated for inclusion
15 by the department, a Pennsylvania citizen or a Pennsylvania
16 physician for which scientifically feasible and cost-effective
17 test methods are available, and the methods for testing and
18 disseminating test results.
19 (b.1) Newborn children shall be tested for the following
20 diseases and disorders:
21 (1) Phenylketonuria (PKU).
22 (2) Maple syrup urine disease (MSUD).
23 (3) Sickle-cell disease (hemoglobinopathies).
24 (4) Galactosemia.
25 (5) Cystic fibrosis.
26 (6) Homocystinuria.
27 (7) Congenital toxoplasmosis.
28 (8) Congenital adrenal hyperplasia.
29 (9) Biotinidase deficiency.
30 (10) Medium chain acyl-CoA dehydrogenase (MCAD) deficiency.
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1 (11) Tyrosinemia.
2 (12) Beta-methylcrotonyl carboxylase (3-methylcrotonyl CoA
3 carboxylase (MCC) deficiency).
4 (13) HMG lyase deficiency (3-hydroxy-3-methylglutaryl CoA
5 (HMG CoA) lyase deficiency or 3 hydroxy-3-methylglutaric
6 aciduria).
7 (14) Argininosuccinic aciduria (argininosuccinic aciduria or
8 argininosuccinate lyase (ASL) deficiency).
9 (15) Isovaleric acidemia (isovaleric acidemia (IVA) or
10 isovaleric acid CoA dehydrogenase deficiency).
11 (16) Glutaric acidemia I (glutaric acidemia (GA) 1 or
12 glutaryl CoA dehydrogenase deficiency).
13 (17) Glutaric acidemia II (glutaric acidemia II or multiple
14 acyl CoA dehydrogenase (MAD) deficiency).
15 (18) Citrullinemia (argininosuccinate synthetase (ASS)
16 deficiency).
17 (19) Methylmalonic aciduria (methylmalonic aciduria (MMA) or
18 methymalonyl-CoA mutase deficiency).
19 (20) Propionic Acidemia (propionic acidemia (PPA) or
20 propionyl-CoA carboxylase (PCC) deficiency).
21 (21) LCHAD (long chain hydroxylacyl-CoA dehydrogenase
22 deficiency).
23 (22) VLCHAD (very long chain acyl-CoA dehydrogenase
24 deficiency).
25 (23) SCAD (short chain acyl-CoA dehydrogenase deficiency).
26 (24) LCAD (long chain acyl-CoA dehydrogenase deficiency).
27 (c) No screening test shall be performed if a parent or
28 guardian dissents on the ground that the test conflicts with a
29 religious belief or practice.
30 Section 2. This act shall take effect in 60 days.
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