RULES AND REGULATIONS
Title 28--HEALTH
AND SAFETY
DEPARTMENT OF HEALTH
[28 PA. CODE CHS. 27, 28 AND 501]
Newborn Disease Screening and Follow-Up Program
[32 Pa.B. 2435] The Department of Health (Department), with the approval of the State Advisory Health Board (Board), adopts amendments to Chapter 28 (relating to screening and follow-up for diseases of the newborn). The Department also adopts amendments to specific sections of Chapters 27 and 501 (relating to communicable and noncommunicable diseases; and birth centers), as made necessary by the amendments to Chapter 28. The amendments are set forth in Annex A.
I. Purpose of the Final-Form Rulemaking
This final-form rulemaking incorporates changes to the Newborn Screening and Follow-Up Program (Program) required as a result of amendments to the Newborn Child Testing Act (act) (35 P. S. §§ 621--625), made by the act of July 9, 1992 (P. L. 398, No. 86). The amendments to the act add maple syrup urine disease (MSUD) and sickle-cell hemoglobinopathies (disease and trait) to the list of diseases for which routine screening of newborns is conducted, provide for the addition to the list by regulation of any other disease approved for inclusion by the Department and the Board, and require a screening and follow-up program to identify and treat newborn children with one of the diseases listed in the act or identified by regulation. See section 3 of the act (35 P. S. § 623). The Department is given the authority under the act to promulgate regulations, with the approval of the Board, to carry out these requirements. See section 5 of the act (35 P. S. § 625). The regulations require screening for galactosemia and congenital adrenal hyperplasia (CAH) under the Department's authority to add to the list of diseases for which routine screening of newborns is to be conducted, by regulation, any other disease approved for inclusion by the Department and the Board. Further, the final-form rulemaking requires screening for hemoglobinopathies (hemoglobin diseases) other than sickle cell hemoglobinopathies because the detection of other hemoglobin diseases, some of which may be life threatening, is unavoidable with the testing methodology currently available.
This final-form rulemaking also makes minor changes to Chapters 27 and 501. Both sets of minor revisions are necessary to ensure that no inconsistencies exist between the updated requirements of the expanded Program and other Department regulations.
Notice of proposed rulemaking was published at 31 Pa.B. 2271 (April 28, 2001) and provided a 30-day public comment period. The Department received three public comments to the proposed rulemaking and additional comments from Independent Regulatory Review Commission (IRRC). The Department's responses to these comments appear in the summary of this Preamble.
II. Summary
One commentator, the Pennsylvania Chapter of the American Academy of Pediatrics, stated that it was pleased to endorse the proposed rulemaking and offered its support in providing any necessary education to pediatricians once the regulations were finalized.
Another commentator believed that the Department should clarify the definition of ''hemoglobin diseases.'' The Department had used the term ''V'' in that definition to indicate a variant. However, as there is no hemoglobin named ''V,'' the commentator believed that the use of this term could be confusing. IRRC also raised this issue. The Department agrees with the commentator and the definition in § 28.1 (relating to definitions) was changed to use the word ''variant'' instead of the letter ''V.''
The final public commentator, the Hospital and Healthsystem Association of Pennsylvania (HAP), raised two concerns. The first concern was that the proposed rulemaking did not clearly state the process by which additions to the list of newborn disease screening are made and how public and clinical input will be sought. HAP suggested that this information be included in the final-form rulemaking. Further, HAP suggested that the Department should clearly articulate the clinical rationale and societal benefits for adding the two particular conditions (presumably CAH and galactosemia) included in these regulations. The Department does not believe that it is necessary to include in the regulations the process by which conditions are selected for screening. The process of selecting conditions for newborn screening testing is consistent with recommendations from the August 2000 National Newborn Screening Task Force Report issued by the Health Resources Services Administration. Determinations are made based on recommendations by the Newborn Screening Technical Advisory Committee, a Department-organized committee which provides both public and clinical input. Committee members include medical professionals in the pediatric field who specialize in endocrinology and metabolic disorders, as well as parents of affected children. The Department's Board must then approve the selection of conditions for screening. Criteria used in selecting conditions for screening include: reliable, valid and accurate testing methodologies must be available; there must be effective treatment that will benefit the newborn; follow-up systems must be in place to ensure access to appropriate care; properly trained professionals must be accessible; and the population demographics must support the cost effectiveness of testing.
The selection of CAH and galactosemia as conditions for which newborns are screened was the result of following the previously described procedure. The clinical rationale for and societal benefit derived from screening for these two conditions were set forth in the preamble to the proposed rulemaking. However, for clarification, the Department will elaborate further. CAH is a complex family of disorders arising from specific defects in the enzymes of the adrenal cortex necessary for the biosynthesis of steroids. Dehydration, shock and even death can occur, with high mortality from ''adrenal crisis.'' As severe forms of CAH can be rapidly fatal, quick diagnosis and intervention in the newborn are critical. Proper early intervention and medical treatment resets the abnormal balance of hormones and permits near normal development. Incidence is one case per 12,000 births. Approximately 25 other states screen for CAH.
Galactosemia is a genetic metabolic condition, which affects the body's ability to utilize certain sugars. Babies born with this condition cannot break down lactose or galactose. These are simple sugars found in breast milk, many formulas and milk products. The most common forms of galactosemia may result in death from sepsis within the first weeks of life or mental retardation in those who survive. Prompt diagnosis and intervention can prevent further damage. Treatment consists of special galactose and lactose-free milk substitutes and foods. One newborn in 60,000 is identified with classical galactosemia. When other forms of galactosemia are included, such as Duarte and Los Angeles, the rate increases to one newborn in 16,000 identified with a form of galactosemia. Forty-seven other states screen for galactosemia.
The second concern voiced by HAP is that the regulations have shifted the responsibility for follow-up notification and counseling to health care providers. The responsibility for follow-up has not been shifted from the Department to health care providers through these regulations. The act mandates physicians, hospitals and other institutions to test infants for PKU and other metabolic diseases.
Section 3 of the act specifically addresses the establishment of the Program by the Department, to assist health care providers to determine whether treatment or other services are necessary to avert mental retardation, permanent disabilities or death. Section 4 of the act (35 P. S. § 624) addresses the procurement of specimens by health care providers and states that health care providers shall cause to be procured blood specimens of newborn children for required screening and confirmatory tests. If the initial specimen is an unacceptable specimen or as otherwise required by the Department by regulation, the act requires that the health care provider collect a repeat specimen for screening and confirmatory tests.
The act is clear in terms of assignment of responsibility. The Department's regulations follow the act and more clearly describe the responsibilities of health care providers and the Department.
IRRC also raised two concerns related to § 28.21 (relating to responsibility for collecting and testing initial and repeat specimens). First, IRRC commented that the section does not specify what qualifications the newborn screening coordinator must have. IRRC commented that paragraph (1) states that the newborn screening coordinator must ''ensure that a specimen collection form contains correct and complete information'' and asks, ''What level of medical training does the newborn screening coordinator need to ensure the information is ''correct?''
It is not the Department's intent to regulate the level of training. The Department believes that no specific level of medical training is necessary to ensure that the information is correct. However, the newborn screening coordinator must have access to the medical record to verify that information on the specimen collection form is consistent with information on the medical record. Filling in the required information on the specimen collection form merely entails taking information from entries in the medical record and transcribing it on to the form. In some hospitals this may be performed by a nurse, medical technologist or medical secretary with access to the medical record.
IRRC's second concern regarding § 28.21 is that paragraph (7) is vague. IRRC asked what is the intent of the Department in requiring the newborn screening coordinator to assist the Department in follow-up of an abnormal or presumptive abnormal test result.
The intent of the Department is to minimize delays in notifying the parents of the test result due to inaccurate or missing demographic information on the newborn screening filter paper. A nurse who is a member of the Department's Program staff receives the test result from the Department's testing laboratory. If the result is abnormal, that nurse will contact the provider's newborn screening coordinator to verify the information from the filter paper. The nurse also informs the coordinator that the Department will contact the newborn's physician. The Department then contacts the physician (by phone and fax) and discusses the need for a referral of the newborn to a treatment center or recommends a consultation with a pediatric endocrinologist depending on the condition.
It is the responsibility of the health care providers to contact the parents of the newborn to inform them of the abnormal test result. This is not a new requirement. Under the regulations prior to these amendments, § 28.27 (relating to abnormal screening test results) stated that ''[i]f the results of any filter paper are presumptive positive, the health care provider or practitioner to whom the results were reported shall promptly notify the parents or guardian and arrange for follow-up and shall enter the report of the result into the patient's medical record.'' The Department has amended this section merely to make the language consistent with the rest of the regulations and to clarify the procedure.
The proposed rulemaking proposed changes to Chapter 27. However, that chapter was in the process of being amended at that time and the amendments to Chapter 27 have now been published as final (see 32 Pa.B. 491 (January 26, 2002)). Consequently, the language no longer exists in some of the Chapter 27 regulations to which the Department had proposed amendments to correlate with the proposed Chapter 28 newborn screening programs amendments. The revisions proposed to Chapter 28 in 31 Pa.B. 2271 were reevaluated in light of the new language of Chapter 27 and necessary changes have been incorporated into this final-form rulemaking.
At 31 Pa.B. 2271, changes were proposed to § 27.2 (relating to specific identified reportable diseases, infections and conditions), as that section existed on April 28, 2001. As a result of changes published in 32 Pa.B. 491, the changes proposed in 31 Pa.B. 2271 are no longer necessary.
There were no changes to § 27.4 (relating to reporting cases) proposed at 31 Pa.B. 2271. However, organizational changes in the Department since that time have necessitated minor changes to reflect the correct name of the Division in which the Program is located.
The changes to Chapter 27 that were published at 32 Pa.B. 491 added § 27.21a (relating to reporting of cases by health care practitioners and health care facilities). Now, additional changes to this section are needed to ensure that all of the conditions for which newborns are screened under Chapter 28 are reportable by health care practitioners and health care facilities.
At 31 Pa.B. 2271, changes were proposed to § 27.22 (relating to reporting of cases by clinical laboratories) as that section existed on April 28, 2001. As a result of changes to this section that were published at 32 Pa.B. 491, additional changes are necessary to ensure that all of the conditions for which newborns are screened under Chapter 28 are reportable by clinical laboratories.
At 31 Pa.B. 2271, changes were proposed to § 27.30 (relating to reporting of certain diseases in the newborn child) as that section existed on April 28, 2001. As a result of changes to this section that were published at 32 Pa.B. 491, additional changes are necessary to ensure that all of the conditions for which newborns are screened under Chapter 28 are reported to the Division in which the Program is located.
The proposed rulemaking proposed minor changes to Chapter 501. The final-form rulemaking make only one additional change to § 501.49 (relating to newborn infant care policies and procedures) so that the terminology used is consistent with that used in Chapter 28.
III. Affected Persons
This final-form rulemaking affects all health care providers providing care to pregnant women and newborn children in this Commonwealth, as well as the treatment centers and any laboratory with which the Department contracts to provide the screening services. Health care providers are required to collect blood filter paper specimens in accordance with updated procedures, assist the Department with follow-up of certain test results and forward data on specimen collection semiannually to the Department. Sickle cell and MSUD treatment centers are required to provide services to an increased number of children identified through the expanded Program. Treatment centers for galactosemia have been identified and are in place for Statewide screening for that condition. CAH will be dealt with in a similar fashion as primary congenital hypothyroidism, through referral to an endocrinologist. The laboratory with which the Department contracts is required to perform testing for MSUD, hemoglobin disease, galactosemia and CAH, in addition to PKU and primary congenital hypothyroidism. These regulations also generally affect all infants born in this Commonwealth, and, in particular, children born in populations at greatest risk for certain diseases (such as, MSUD and hemoglobin diseases).
IV. Cost And Paperwork Estimate
A. Cost
Statutorily mandated expansion of the Program to include testing for MSUD and sickle cell hemoglobinopathies (hemoglobin disease) will result in increased cost to the Commonwealth and, on a lesser scale, to health care providers. Annual costs of the Program are expected to increase by approximately $1.3 million to cover testing and follow-up for MSUD, hemoglobin disease, galactosemia and CAH. This amount will be funded entirely by State funds. The total annual budget for the expanded Program includes testing of 150,000 specimens for each of the six diseases (PKU, primary congenital hypothyroidism, MSUD, hemoglobin disease, galactosemia and CAH), additional personnel, new and replacement equipment for the Bureau of Laboratories and the testing laboratory and follow-up of children who are identified with one of the six diseases listed.
The cost to the private sector will be the cost incurred by health care providers in connection with providing the necessary follow-up to abnormal test results. The Department currently does not charge hospitals or parents for the costs of laboratory screening.
Expansion of the Program to include screening for MSUD, hemoglobin disease, galactosemia and CAH, however, will result in long-term savings as well. The total cost of screening all newborn children in this Commonwealth, including follow-up and some treatment for PKU, primary congenital hypothyroidism, MSUD, sickle cell disease, CAH and galactosemia is estimated at approximately $32 per child.
B. Additional Paperwork
The testing laboratory and health care providers will have additional reporting responsibilities resulting from the addition of diseases to the list of diseases for which screening is required. The increase in paperwork requirements will be minimal, however, because the specimens necessary for screening for MSUD, hemoglobin disease, galactosemia and CAH will be collected on the same specimen collection form currently used solely for PKU and primary congenital hypothyroidism screening. Furthermore, the testing laboratory will report screening test results for the newly added diseases on the same report form currently used solely for PKU and primary congenital hypothyroidism. The regulations require health care providers to submit data regarding specimen collection to the Department semiannually. Paperwork requirements within the Department will not change significantly except to the extent that the addition of MSUD, hemoglobin disease, galactosemia and CAH will result in more instances in which follow-up of abnormal results will be required.
The expanded program for screening for sickle cell hemoglobinopathies (hemoglobin disease) and MSUD was mandated by statute in 1992, and has, in fact, been operating since that time. As has been stated, screening for sickle cell hemoglobinopathies (hemoglobin disease) began in September 1992, and for MSUD began in March 1993. Screening for galactosemia and CAH began on a voluntary basis in State fiscal year 2000/2001. The regulations will not add to the paperwork currently being done by providers of their own volition, nor will they, for the most part, increase costs currently incurred as screening mandated by the act is carried out.
V. Effectiveness/Sunset Dates
The regulations will become effective upon final publication in the Pennsylvania Bulletin. No sunset date has been established; the Department will continually review and monitor the effectiveness of the Program.
VI. Statutory Authority
The Department obtains its authority to promulgate these regulations from several sources. The Disease Prevention and Control Law of 1955 (35 P. S. §§ 521.1--521.21) provides the Board with the authority to issue rules and regulations on a variety of issues relating to communicable and noncommunicable diseases, including the methods of reporting diseases, the contents of those reports and the health authorities to whom diseases are to be reported. See 35 P. S. § 521.16(a). Section 16(b) of the Disease Prevention and Control Law of 1955 (35 P. S. § 521.16(b)) gives the Secretary of Health (Secretary) the authority to review existing regulations and make recommendations to the Board for changes the Secretary considers to be desirable.
The Department also finds general authority for the promulgation of its regulations in section 2102(g) of The Administrative Code of 1929 (71 P. S. § 532(g)) which gives the Department the authority to promulgate its rules and regulations. Section 2111(b) of The Administrative Code of 1929 (71 P. S. § 541(b)) provides the Board with additional authority to promulgate regulations deemed by the Board to be necessary for the prevention of disease, and for the protection of the lives and the health of the people of this Commonwealth. That section further provides that the regulations of the Board shall become the regulations of the Department.
The Department's specific authority for promulgating the regulations relating to newborn screening and follow-up is found in the act. Section 5 of the act provides the Department, with the approval of the Board, the authority to promulgate regulations for the implementation and administration of the act. Section 3(b) of the act provides the Department, with the approval of the Board, the authority to establish by regulation those diseases for which newborn children shall be tested and the methods for testing and disseminating test results. Section 4(b) of the act provides the Department with the authority to establish by regulation the methods of procurement of blood specimens of newborn children by health care providers.
VII. Regulatory Review
Under section 5(a) of the Regulatory Review Act (71 P. S. § 745.5(a)), on April 18, 2001, the Department submitted copies of the notice of proposed rulemaking published at 31 Pa.B. 2271 to IRRC and to the Chairpersons of the House Health and Human Services Committee and the Senate Public Health and Welfare Committee for review and comment.
In compliance with section 5(c) of the Regulatory Review Act, the Department also provided IRRC and the Committees with copies of all comments received. In addition, the Department provided IRRC and the Committees with information pertaining to commentators and a copy of the detailed regulatory analysis form prepared by the Department in compliance with Executive Order 1996-1, ''Regulatory Review and Promulgation.'' A copy of this material is available to the public upon request. In preparing the final-form regulations, the Department has considered all comments received from IRRC and the public.
Under section 5.1(d) of the Regulatory Review Act (71 P. S. § 745.5a(d)), these final-form regulations were deemed approved by the House and Senate Committees on February 28, 2002. IRRC met on April 4, 2002, and approved the final-form regulations in accordance with section 5.1(e) of the Regulatory Review Act. The Attorney General approved the final-form regulations on April 29, 2002.
VIII. Contact Person
Questions regarding these final-form regulations may be submitted to: Joann Adair, Director, Division of Newborn Disease Prevention and Identification, Bureau of Family Health, Department of Health, P. O. Box 90, Harrisburg, PA 17108, (717) 783-8143. Persons with disabilities may submit questions to Joann Adair in alternative formats, such as by audio tape, Braille or using ITT (717) 705-5494. Persons with disabilities who would like to obtain this document in an alternative format (such as, large print, audio tape, Braille) should contact Joann Adair so that she may make the necessary arrangements.
Findings
The Department, with the approval of the Board, finds that:
(1) Public notice of the intention to adopt the amendments adopted by this order has been given under sections 201 and 202 of the act of July 31, 1968 (P. L. 769, No. 240) (45 P. S. §§ 1201 and 1202), and the regulations thereunder, 1 Pa. Code §§ 7.1 and 7.2.
(2) A public comment period was provided as required by law and all comments were considered.
(3) The adoption of this final-form rulemaking in the manner provided by this order is necessary and appropriate for the administration of the authorizing statutes.
Order
The Department, with the approval of the Board, acting under the authorizing statutes, orders that:
(a) The regulations of the Department, 28 Pa. Code Chapters 27, 28 and 501, are amended by adding § 28.5; by amending §§ 27.4, 27.21a, 27.22, 27.30, 28.1--28.2, 28.11, 28.12, 28.21--28.28, 28.41, 501.3 and 501.49; and by deleting §§ 28.3, 28.4 and 28.29--28.31 as set forth in Annex A, with ellipses referring to the existing text of the regulations.
(b) The Secretary shall submit this order and Annex A to the Office of General Counsel and the Office of Attorney General for approval as required by law.
(c) The Secretary shall submit this order, Annex A and a Regulatory Analysis Form to IRRC, the House Committee on Health and Human Services and the Senate Committee on Public Health and Welfare for their review and action as required by law.
(d) The Secretary shall certify this order and Annex A and deposit them with the Legislative Reference Bureau as required by law.
(e) This order shall take effect upon publication in the Pennsylvania Bulletin.
ROBERT S. ZIMMERMAN, Jr.,
Chairperson(Editor's Note: For the text of the order of the Independent Regulatory Review Commission, relating to this document, see 32 Pa.B. 2041 (April 20, 2002).)
Fiscal Note: Fiscal Note 10-137 remains valid for the final adoption of the subject regulations.
Annex A
TITLE 28. HEALTH AND SAFETY
PART III. PREVENTION OF DISEASE
CHAPTER 27. COMMUNICABLE AND NONCOMMUNICABLE DISEASES
Subchapter A. GENERAL PROVISIONS § 27.4. Reporting cases.
(a) Except for reporting by a clinical laboratory, a case is to be reported to the LMRO serving the area in which a case is diagnosed or identified unless another provision of this chapter directs that a particular type of case is to be reported elsewhere. A clinical laboratory shall make reports to the appropriate office of the Department.
(b) Upon the Department's implementation of its electronic disease surveillance system for certain types of case reports, persons who make those reports shall do so electronically using an application and reporting format provided by the Department. At least 6 months in advance of requiring a type of case report to be reported electronically, the Department will publish a notice in the Pennsylvania Bulletin announcing when electronic reporting is to begin.
(c) This section does not prohibit a reporter from making an initial report of a case to the Department or an LMRO by telephone. The reporter will be instructed on how to make a complete case report at the time of the telephone call.
(d) Department offices to which this chapter requires specified case reports to be filed are as follows:
(1) Cancer Registry, Division of Health Statistics, Bureau of Health Statistics and Research.
(2) Division of Infectious Disease Epidemiology, Bureau of Epidemiology.
(3) HIV/AIDS Epidemiology Section, Division of Infectious Disease Epidemiology, Bureau of Epidemiology.
(4) Division of Newborn Disease Prevention and Identification, Bureau of Family Health.
(e) A case shall be reported using the appropriate case report format. Information solicited by the case report form shall be provided by the reporter, irrespective of whether the report is made by submitting the form directly in hard copy or by telecommunication or electronic submission. An appropriate case report form or format may be procured from the office to which the type of case is reportable.
Subchapter B. REPORTING OF DISEASES, INFECTIONS AND CONDITIONS
GENERAL § 27.21a. Reporting of cases by health care practitioners and health care facilities.
* * * * * (b) The following diseases, infections and conditions in humans are reportable by health care practitioners and health care facilities within the specified time periods and as otherwise required by this chapter:
* * * * * (2) The following diseases, infections and conditions are reportable within 5 work days after being identified by symptoms, appearance or diagnosis:
* * * * * Congenital adrenal hyperplasia (CAH) in children under 5 years of age.
* * * * * Galactosemia in children under 5 years of age.
* * * * * Sickle cell disease in children under 5 years of age.
* * * * * § 27.22. Reporting of cases by clinical laboratories.
* * * * * (b) The diseases, infections and conditions to be reported include the following:
* * * * * Congenital adrenal hyperplasia (CAH) in children under 5 years of age.
* * * * * Galactosemia in children under 5 years of age.
* * * * * Sickle cell disease in children under 5 years of age.
* * * * * (e) Reports made on paper shall be made to the LMRO where the case is diagnosed or identified. Reports made electronically shall be submitted to the Division of Infectious Disease Epidemiology, Bureau of Epidemiology. Reports of CAH, galactosemia, maple syrup urine disease, phenylketonuria, primary congenital hypothyroidism, sickle cell disease, cancer and lead poisoning shall be reported to the location specifically designated in this subchapter. See §§ 27.30, 27.31 and 27.34 (relating to reporting cases of certain diseases in the newborn child; reporting cases of cancer; and reporting cases of lead poisoning).
* * * * *
DISEASES AND CONDITIONS REQUIRING SPECIAL REPORTING § 27.30. Reporting cases of certain diseases in the newborn child.
Reports of congenital adrenal hyperplasia (CAH), galactosemia, maple syrup urine disease, phenylketonuria, primary congenital hypothyroidism and sickle cell disease shall be made to the Division of Newborn Disease Prevention and Identification, Bureau of Family Health, as specified in Chapter 28 (relating to screening and follow-up for diseases of the newborn) and those provisions of § 27.4 (relating to reporting cases) consistent with Chapter 28 and this section.
CHAPTER 28. SCREENING AND FOLLOW-UP FOR DISEASES OF THE NEWBORN
GENERAL PROVISIONS § 28.1. Definitions.
The following words and terms, when used in this chapter, have the following meanings, unless the context clearly indicates otherwise:
Abnormal confirmatory test result--A test result obtained from a specimen of blood, serum or plasma which is diagnostic of the newborn disease under investigation.
Abnormal screening test result--A test result obtained from a specimen collected on a specimen collection form which is outside the parameters for a normal test result according to testing criteria applicable to the screening test result.
Admission--The formal acceptance of custody or care by a birth center or hospital of a newborn child who is provided with bassinet or incubator, nutrition and continuous nursing service.
Birth center--As defined in section 802a of the Health Care Facilities Act (35 P. S. § 448.802a).
Days of age--The measurement of age of the newborn child in 24-hour periods so that a newborn child is one day of age 24 hours after the hour of birth.
Department--The Department of Health of the Commonwealth.
Discharge--The release of the newborn child from care and custody within and by birth center or hospital to the care and custody of the parent or guardian.
Health care practitioner--A licensed physician or a practitioner licensed to deliver and care for pregnant women and newborn children.
Health care provider--A birth center, hospital or health care practitioner.
Hemoglobin diseases--Sickle cell (SS, SC, S + other variant, S beta Thalassemia, S O Arab) disease or trait or other clinically significant hemoglobin (CC, EE, F, H) disease or trait.
Hospital--As defined in section 802a of the Health Care Facilities Act.
Inconclusive screening test result--A test result obtained from a specimen collected on a specimen collection form that is equivocal according to criteria applicable to the screening test result and which indicates the need for a repeat specimen and repeat testing.
Initial specimen--The first sample of blood collected from the newborn child and submitted for testing purposes on a specimen collection form.
Newborn child--An infant less than 28 days of age.
Newborn screening program--The association of the Department, the testing laboratory and the health care provider to ensure that every newborn child born in this Commonwealth has a blood specimen collected and screened for the newborn diseases in § 28.2 (relating to newborn diseases listed).
Presumptive abnormal test result--An abnormal screening test result which is sufficiently abnormal to indicate the probable presence of a newborn disease listed in § 28.2.
Repeat specimen--A specimen collected from a newborn child on a specimen collection form after the initial specimen.
Repeat test--The laboratory testing performed on a repeat specimen.
Specimen collection form--The official newborn screening program specimen form that includes both a multipart section for providing required information about the newborn child and a filter paper tab for application of blood.
Testing laboratory--The licensed clinical laboratory under contract with the Department to perform testing for the newborn diseases listed in § 28.2.
Transfer--The release of the newborn child from care and custody within and by a birth center or hospital and subsequent admission to another hospital.
Treatment center--A center under contract with the Department to provide expert consultation, diagnosis and treatment for children with a presumptive abnormal test result.
Unacceptable specimen--A blood specimen collected from a newborn child on a specimen collection form which is found to be unsuitable for testing in accordance with accepted laboratory testing standards as determined by the Department.
§ 28.2. Newborn diseases listed.
A newborn child born in this Commonwealth shall be screened for the following diseases which may cause mental retardation, physical defects or death if not detected and treated soon after birth:
(1) Congenital adrenal hyperplasia (CAH).
(2) Galactosemia.
(3) Hemoglobin diseases.
(4) Maple syrup urine disease (MSUD).
(5) Phenylketonuria (PKU).
(6) Primary congenital hypothyroidism.
§ 28.3. (Reserved).
§ 28.4. (Reserved).
§ 28.5. Confidentiality.
(a) A health care provider, testing laboratory, the Department or any other entity involved in the newborn screening program may not release any identifying information relating to any newborn child screened in the newborn screening program to anyone other than a parent or guardian of the newborn child or the health care provider for the newborn child designated by a parent or the guardian except as follows:
(1) As may be necessary to provide services to the newborn child.
(2) With the consent of the newborn child's parent or guardian.
(3) With the child's consent when the child is 18 years of age or older, has graduated from high school, has married or has been pregnant.
(b) Only the Department will have the authority to release or authorize the release of nonidentifying information concerning the newborn screening program.
PURPOSE AND ADMINISTRATION OF TESTS § 28.11. Informing the parent or guardian.
Prior to specimen collection, the health care provider shall provide the pregnant woman, prior to the infant's birth, or the mother or guardian, after the infant's birth, with a pamphlet supplied by the Department to explain the nature of the newborn screening blood tests for the diseases in § 28.2 (relating to newborn diseases listed).
§ 28.12. Religious objections.
(a) A health care provider may not collect or cause to be collected, a specimen from a newborn child if the parent or guardian of the newborn child objects on the ground that the specimen collection conflicts with religious beliefs or practices held by the parent or guardian.
(b) If the parent or guardian of the newborn child objects to the collection of the specimen for screening on the ground that the specimen collection conflicts with religious beliefs or practices held by the parent or guardian, the health care provider shall ensure that the recorded objection of the parent or guardian is entered into the medical record of the newborn child. The entry shall include a written statement of the objection signed by the parent or guardian.
SPECIMEN COLLECTION AND FOLLOW-UP § 28.21. Responsibility for collecting and testing initial and repeat specimens.
(a) A birth center or hospital shall collect or cause to be collected from each newborn child delivered in that birth center or hospital, in accordance with instructions for newborn screening specimen collection in subsection (d), the initial and repeat specimens necessary to conduct the tests necessary for the detection of the newborn diseases specified in § 28.2 (relating to newborn diseases listed).
(b) When a newborn child is delivered other than in a birth center or hospital, the health care practitioner who delivered the newborn child shall collect or cause to be collected from the newborn child, in accordance with instructions for newborn screening specimen collection in subsection (d), the initial and repeat specimens necessary to conduct the tests necessary for the detection of the newborn diseases specified in § 28.2.
(c) The health care provider shall designate a newborn screening coordinator to do the following:
(1) Ensure that a specimen collection form contains correct and complete information.
(2) Ensure that the individual who collected the specimen records that act in the newborn child's medical record.
(3) Send all specimens collected by first class mail to the testing laboratory within 24 hours of collection.
(4) Record the laboratory screening results in the newborn child's medical records.
(5) Check each newborn child's record prior to discharge or release to ensure that a specimen has been collected.
(6) Ensure, in the event of transfer of the newborn child prior to 48 hours of age, that the receiving health care provider has been notified that it has the responsibility to collect the initial specimen.
(7) Assist the Department in follow-up of an abnormal or presumptive abnormal test result.
(8) Follow-up inconclusive test results.
(9) Receive notification from the testing laboratory or from the Department of the need for a repeat specimen.
(d) The health care provider shall ensure that the individual responsible for specimen collection shall collect the specimen necessary to conduct tests in accordance with consensus standards developed by the National Committee for Clinical Laboratory Standards (NCCLS) and accepted by the Department. The Department will publish these standards, and any revisions thereto, in a notice in the Pennsylvania Bulletin.
§ 28.22. Timing of initial specimen collection by birth centers or hospitals.
(a) A birth center or hospital shall collect the initial specimen from each newborn child regardless of feeding history or medical condition, as close to 48 hours of age as possible but not later than 72 hours of age unless the newborn child falls into one of the following categories:
(1) Transfer. If the newborn child is transferred to another hospital for continuing care prior to 48 hours of age, the hospital to which the newborn child has been transferred shall collect a specimen from the newborn child, regardless of feeding history or medical condition, as close to 48 hours of age as possible but not later than 72 hours of age.
(2) Exchange transfusion. If the newborn child is to undergo an exchange transfusion, the birth center or hospital shall collect the initial specimen for testing immediately prior to the exchange transfusion.
(3) Early discharge. If the newborn child is discharged from the birth center or hospital before 24 hours of age, the birth center or hospital shall collect the initial specimen from the newborn child as close to the time of discharge as is practicable, regardless of feeding history or medical condition. The birth center or hospital shall give the parent or guardian in whose care and custody the newborn child is discharged written notification of the need for a repeat specimen and shall also provide instructions to the parent or guardian for obtaining a repeat specimen from the newborn child as described in § 28.26 (relating to timing of repeat specimen collection).
(b) When a newborn child, who was delivered other than in a birth center or hospital, is admitted to a hospital within the first 27 days of age and the hospital has received no record of results of an approved screening test for the newborn diseases in § 28.2 (relating to newborn diseases listed), the hospital to which the newborn child is admitted shall collect the initial specimen within 48 hours of admission to the hospital and shall send the specimen to the testing laboratory specified by the Department within 24 hours of collection.
§ 28.23. Timing of initial specimen collection by health care practitioners.
A health care practitioner who delivers a newborn child other than in a birth center or hospital shall collect or cause to be collected the initial specimen from the newborn child, regardless of feeding history or medical condition, as close to 48 hours as possible but not later than 72 hours of age.
§ 28.24. Normal test results.
(a) Within 7-calendar days following the day when the testing laboratory obtains the normal test results, the testing laboratory shall send those results to the health care provider that collected the specimen from the newborn child.
(b) The health care provider to whom the normal test results are reported shall record the test results in the medical record of the newborn child.
§ 28.25. Circumstances requiring repeat specimens.
(a) The health care provider responsible for collecting the initial specimen shall collect or cause to be collected and submit for testing a repeat specimen if the initial specimen collected is either of the following:
(1) Unacceptable for testing.
(2) Yields an inconclusive screening test result.
(b) If a birth center or hospital collects the initial specimen from a newborn child prior to 24 hours of age because the newborn child is discharged from the birth center or hospital prior to 24 hours of age, the birth center or hospital shall collect or cause to be collected a repeat specimen.
(c) If the initial specimen collected yields an abnormal screening test result, the Department may require the health care provider responsible for collecting the initial specimen to collect a repeat specimen.
§ 28.26. Timing of repeat specimen collection.
(a) When the newborn child has been discharged from a birth center or hospital before 24 hours of age, the birth center or hospital shall collect or cause to be collected a repeat specimen from the newborn child, regardless of feeding history or medical condition, as close to 48 hours of age as possible but not later than 72 hours of age.
(b) When the initial specimen is unacceptable or when the initial specimen yields an inconclusive screening test result, the Department or testing laboratory will notify the health care provider that collected the initial specimen. Within 72 hours of receipt of notice from the Department or testing laboratory, the health care provider that collected the initial specimen shall collect or cause to be collected from the newborn child a repeat specimen.
(c) If the health care provider cannot locate a parent or guardian of the newborn child within 4 days of notification of need for a repeat specimen, the health care provider shall contact the Department for consultation regarding additional means for locating a parent or guardian.
§ 28.27. Abnormal screening test results.
(a) When testing of the initial or repeat specimen yields an abnormal screening test result, the Department will notify the health care provider that collected the specimen. The health care provider shall promptly notify a parent or guardian of the newborn child.
(b) If the health care provider cannot locate the newborn child's parent or guardian within 48 hours of receiving notice from the Department, the health care provider shall contact the Department for consultation regarding additional means for locating a parent or guardian.
(c) The Department will assist the health care provider with and make available confirmatory testing.
(d) If the result of the confirmatory test is abnormal, the Department will assist with referral for diagnosis, treatment, and other follow-up services for the newborn child through designated treatment centers or clinical specialists.
§ 28.28. Follow-up of symptoms consistent with newborn diseases.
When a sick child exhibits symptoms suggestive of a newborn disease listed in § 28.2 (relating to newborn diseases listed) and has not already been determined to have one of those newborn diseases, the health care provider to whom care of the sick child has been entrusted by the parent or guardian shall collect and submit a blood specimen for newborn disease testing in accordance with standard diagnostic procedures.
§§ 28.29--28.31. (Reserved).
RECORDS § 28.41. Recordkeeping requirements.
A health care provider offering maternity and newborn services shall collect and forward data semiannually to the Department on the number of patients for whom specimens for newborn disease testing have been collected and the number of patients for whom the specimens have not been collected, together with the reason in each instance for the failure to collect.
PART IV. HEALTH FACILITIES
CHAPTER 501. BIRTH CENTERS
GENERAL PROVISIONS § 501.3. Reports/contact person.
(a) The facility shall report regularly to the Department, on forms issued by the Department, statistical information that the Department may request and shall comply with the requirements for recordkeeping in § 28.41 (relating to recordkeeping requirements).
(b) Data that could lead to the disclosure of the identity of individuals involved will be considered confidential and may not be released without prior authorization of the legal parent, guardian or newborn infant upon obtaining the age of 18.
(c) Questions concerning reports required should be addressed to Director, Division of Primary Care and Home Health Services, Department of Health, Post Office Box 90, Harrisburg, Pennsylvania 17108.
§ 501.49. Newborn infant care policies and procedures.
The newborn infant care policies, protocols and procedures shall include the following:
(1) Resuscitation equipment for newborn infant care management of short-term assisted ventilation shall include bag and mask or bag and endotracheal tube, with oxygen supply available.
(2) Medication approved by the Department in § 27.98 (relating to prophylactic treatment of newborns), shall be instilled in the eyes of the newborn infant according to statute. If the parent or guardian of the newborn child objects on the ground that the prophylactic treatment conflicts with the parent's religious beliefs or practices, prophylactic treatment will be withheld, and an entry in the child's record indicating the reason for withholding treatment shall be made and signed by the Physician Director of Medical Affairs and the parent or guardian of the newborn infant.
(3) Before discharge from the center, the newborn infant shall be examined by a midwife or a physician, and the results shall be entered in the health record. An infant with identified abnormalities shall be referred for appropriate follow-up, in accordance with the birth center policies.
(4) The birth center shall explain to the mother the purpose and nature of the screening tests for diseases of the newborn, required by Chapter 28 (relating to screening and follow-up for diseases of the newborn), give her an informational pamphlet provided by the Department, inform her of her right to refuse the tests because of religious beliefs or practices, and see that the recorded written objection is entered into the medical record of the newborn child and signed by the parent or guardian, if screening is refused.
(5) The birth center shall comply with the requirements for specimen collection, testing and follow-up in §§ 28.21--21.28 (relating to specimen collection and followup).
(6) Policies and other criteria, which govern discharge of newborn infants, shall be in accordance with birth center policies.
(7) The birth center shall communicate with the pediatric care provider and transfer birth and newborn records to the pediatric care provider.
(8) The birth center shall provide a list of available counselors and counseling services, compiled under 23 Pa.C.S. § 2505 (relating to counseling), to mothers who are known to be considering relinquishing or termination of parental rights under 23 Pa.C.S. §§ 2101--2909 (relating to the Adoption Act).
[Pa.B. Doc. No. 02-888. Filed for public inspection May 17, 2002, 9:00 a.m.]
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