Main Body

Newborn Screening Program

NYCRR 10
Section 69-1

(Statutory authority: Public Health Law, sections 2500-a and 2500-f)

Section

69-1.1 Definitions Effective Date: 11/23/2005	69-1.6 Responsibilities of the public health officer Effective Date: 12/06/1989
69-1.2 Diseases and conditions tested Effective Date: 01/18/2006	69-1.7 Responsibilities of the specialized care centers Effective Date: 02/01/1997
69-1.3 Responsibilities of the chief executive officer Effective Date: 11/23/2005	69-1.8 Follow-up review, tracking and educational activities Effective Date: 12/06/1989
69-1.4 Responsibilities of the birth attendant Effective Date: 02/01/1997	69-1.9 Inapplicability of this Part Effective Date: 12/06/1989
69-1.5 Duties of the responsible physician Effective Date: 02/01/1997

Section 69-1.1 Definitions

Effective Date: 11/23/2005

As used in this Part:

1. Testing laboratory means the Wadsworth Center Laboratory of Newborn Screening and Genetic Services, New York State Department of Health, Empire State Plaza, Albany, New York 12201.
2. Responsible institution means the general hospital or diagnostic and treatment center providing birthing services.
3. Chief executive officer means the person who acts as the administrative officer of the institution and who is responsible to the licensed governing body for overall management of the hospital or diagnostic treatment center providing birthing services.
4. Birth attendant means the physician, licensed midwife or other person who attends a nonhospital birth and who is required to register the birth of a child by section 4130 of the Public Health Law.
5. Responsible physician means the physician or other licensed health care provider named on the specimen collection form, the infant's primary health care provider, if different, or the hospital staff physician as designated by the chief executive officer and identified to the testing laboratory.
6. Parent means the infant's parent or legal guardian or other person legally responsible for the health and well-being of the infant.
7. Public health officer means the officer or commissioner of health of a city, town, village, county or region, or public health nursing service in counties which do not have organized health departments.
8. Specimen collection form means the current specimen collection form as provided by the testing laboratory.
9. Specimen means a dried blood filter specimen collected on an approved specimen collection form.
10. Satisfactory specimen means a specimen received by the testing laboratory in a condition suitable for testing.
11. Unsatisfactory specimen means a specimen which is received by the testing laboratory in a condition unsuitable for testing.
12. Repeat specimen means an additional satisfactory specimen required by the testing laboratory.
13. Specialized care center means a health care facility established under article 28 of the Public Health Law which is approved by the department and certified by the Wadsworth Center to provide treatment and/or services to children identified by the testing laboratory.
14. HIV specialized care center means a health care facility established under Article 28 of the Public Health Law which:
    
    1. is designated as an AIDS Center for providing care to women and children; or
    2. receives state and/or federal funds for comprehensive treatment and services to HIV-exposed newborns identified by the testing laboratory, and to the newborns' mothers and families.
15. Department means the New York State Department of Health.

69-1.2 Diseases and conditions tested

Effective Date: 01/18/2006

1. Unless a specific exemption is granted by the State Commissioner of Health, the testing required by section 2500-a and section 2500-f of the Public Health Law shall be performed by the testing laboratory according to recognized clinical laboratory procedures.
2. Diseases and conditions to be tested for shall include: argininemia (ARG); argininosuccinic acidemia (ASA); biotinidase deficiency; branched-chain ketonuria, also known as maple syrup urine disease (MSUD); carnitine palmitoyl transferase Ia deficiency (CPT-IA); carnitine palmitoyl transferase II deficiency (CPT-II); carnitine-acylcarnitine translocase deficiency (CAT); carnitine uptake defect (CUD); citrullinemia (CIT); cobalamin A,B cofactor deficiency (Cbl A,B); congenital adrenal hyperplasia (CAH); cystic fibrosis (CF); dienoyl-CoA reductase deficiency (DE REDUCT); galactosemia; galactosylceramidase deficiency (Krabbe disease); glutaric acidemia type I (GA-I); hemoglobinopathies, including homozygous sickle cell disease; homocystinuria; human immunodeficiency virus (HIV) exposure and infection; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG); hyperammonemia/ornithinemia/citrullinemia (HHH); hypermethioninemia (HMET); hypothyroidism; isobutyryl-CoA dehydrogenase deficiency (IBG or IBCD); isovaleric acidemia (IVA); long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD); malonic aciduria (MAL); medium-chain acyl-CoA dehydrogenase deficiency (MCADD); medium-chain ketoacyl-CoA thiolase deficiency (MCKAT); medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD); 2-methylbutyryl-CoA dehydrogenase deficiency (2MBG); 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC); 3-methylglutaconic aciduria (3MGA); 2-methyl 3-hydroxy butyryl-CoA dehydrogenase deficiency (2M3HBA); methylmalonic acidemia (Cbl C, D); methylmalonyl-CoA mutase deficiency (MUT); mitochondrial acetoacetyl-CoA thiolase deficiency (BKT); mitochondrial trifunctional protein deficiency (TFP); multiple acyl-CoA dehydrogenase deficiency (MADD, also known as GA-II); multiple carboxylase deficiency (MCD); phenylketonuria (PKU); propionic acidemia (PA); short-chain acyl-CoA dehydrogenase deficiency (SCADD); tyrosinemia (TYR); and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

69-1.3 Responsibilities of the chief executive officer

Effective Date: 11/23/2005

The chief executive officer shall ensure that a satisfactory specimen is submitted to the testing laboratory for each newborn born in the hospital, or admitted to the hospital within the first twenty-eight (28) days of life from whom no specimen has been previously collected, and that the following procedures are carried out:

1. The infant's parent is informed of the purpose and need for newborn screening, and given newborn screening educational materials provided by the testing laboratory.
2. Specimen collection forms are properly stored in a cool and dry environment prior to use. Such forms shall be legibly and fully completed and shall include all information required by the testing laboratory for processing specimens, and conducting tracking and follow-up activities, including, but not limited to, information identifying:
   1. the infant's name; sex; whether single birth or, if twin birth, sequence of birth; ethnicity; date of birth; birth weight; medical record number; and whether premature and/or transfused, with transfusion date;
   2. the specimen, including identification number, the date collected, infant's age in hours at time of collection; and whether initial or repeat specimen;
   3. the mother's name, address, county of residence, telephone number, social security number, age in years and test result for hepatitis B surface antigen (HBs Ag);
   4. the hospital or responsible institution's name and city; permanent facility identifier (PFI) code; and whether hospital of birth, or home birth; and
   5. the responsible physician's name, address, telephone number and license number.
3. The above information shall also be submitted to the department in an electronic format which is consistent with the technical specifications established by the department.
   1. Providers submitting the required information in an approved and validated electronic format, and submitting the minimal necessary identifying information with the specimen, may be exempted by the department from the manual reporting requirements of this section. Additionally, upon receipt of a request from a provider, the department may exempt the provider from electronic submission of the information if the requirement imposes an undue burden on the provider due to a low number of births and limited access to electronic communications equipment, or if temporary equipment malfunctions occur.
   2. The requirement for electronic reporting shall take effect sixty (60) days from the effective date of these regulations.
4. Specimens shall be taken utilizing correct specimen collection techniques.
5. A specimen shall be taken upon discharge of the infant from the facility, except as noted below. If an infant is less than twenty-four (24) hours of age upon discharge, a second specimen marked "repeat" shall be collected between the seventy-second and one-hundred and twentieth hour of life.
   1. In the event of prolonged hospitalization for specialized medical care, a specimen shall be collected between the seventy-second and one-hundred and twentieth hour of life. A second specimen marked "repeat" shall be collected upon discharge or at one month of life, whichever comes first.
   2. The responsible institution shall make every effort to obtain a specimen prior to any anticipated blood transfusion.
   3. In the case of inter-hospital transfer of the infant, the transferring hospital shall provide written notification to the receiving hospital indicating whether or not a specimen has been taken prior to transfer. Following transfer, the chief executive officer of the receiving hospital shall assume responsibility for collection of the specimen in accordance with these regulations.
6. The date and time of specimen collection shall be recorded on the infant's permanent health record.
7. All specimens shall be allowed to air dry thoroughly on a flat nonabsorbent surface for a minimum of four (4) hours prior to transmittal to the testing laboratory. All specimens shall be forwarded to the testing laboratory within twenty-four (24) hours of collection by first class mail or its equivalent.
8. Thoroughly dried specimens shall be submitted in accordance with instructions provided by the testing laboratory.
9. All test results forwarded to the chief executive officer or his designee by the testing laboratory shall be included in the infant's permanent health record.
10. The chief executive officer or his designee shall transmit to the responsible physician a copy of those test results which are determined by the testing laboratory to be within acceptable limits.
11. The chief executive officer shall be responsible for ensuring that repeat specimens are submitted whenever the hospital is notified by the testing laboratory that the initial specimen was unsatisfactory or that an additional specimen is otherwise required.
    1. If a repeat specimen is required and notification has been received from the responsible physician that he/she is no longer the infant's current health provider, the chief executive officer shall determine the infant's new health care provider and cause such repeat specimen to be submitted to the testing laboratory.
    2. If a repeat specimen is not obtained, the chief executive officer shall submit to the testing laboratory written documentation of all efforts made to secure such repeat specimen within ten(10) working days of cessation of specimen collection efforts.
12. In addition to all applicable preceding requirements for HIV testing the following specific procedures shall be carried out:
    1. Obtain a history of HIV testing and treatment from the mother to enable counseling consistent with such history and knowledge of her own HIV status, and document such history in the medical record.
    2. If no HIV test result obtained during the current pregnancy is available for the mother not known to be HIV infected, arrange an immediate screening test of the mother with her consent or of her newborn for HIV antibody with results available as soon as practicable, but in no event longer than 12 hours after the mother provides consent for testing or, if she does not consent, 12 hours after the time of the infant's birth.
    3. The newborn HIV test result shall be maintained securely and confidentially in the medical record of the newborn in accordance with Public Health Law Article 27-F.
    4. The chief executive officer or his designee shall transmit to the responsible physician a copy of the newborn's HIV test result, and, at the request of the responsible physician, shall transmit the result to an HIV specialized care center.
    5. Make referrals as necessary for follow-up of HIV positive newborns who cannot be located.
    6. Ensure that data required by the department for program evaluation and, in the case of HIV positive newborns, for patient follow-up, is collected and provided to authorized staff at the department.
    7. Submit to the department information on the prior HIV testing and treatment history of the mother for the purposes of medical audits; such information shall be kept confidential as required by Public Health Law section 206(1)(j).

69-1.4 Responsibilities of the birth attendant

Effective Date: 02/01/1997

Responsibilities of the birth attendant. It is the duty of the birth attendant to submit to the testing laboratory an initial blood specimen from all infants born outside of, and not admitted to, a responsible institution.

1. The birth attendant must adhere to the procedures specified in subdivisions (a) through (l) of section 69-1.3 of this Part except for subdivisions (c), (i), (j) and (k).
2. The birth attendant shall collect or cause to be collected a repeat specimen when required by the testing laboratory and shall submit or cause such repeat specimen to be submitted to the testing laboratory within 24 hours of collection.
3. If a repeat specimen is not obtained, the birth attendant shall submit to the testing laboratory written documentation of efforts made to secure the repeat specimen.
4. For HIV testing, the following specific procedures shall be carried out:
   1. Obtain a history of HIV testing and treatment from the mother to enable counseling consistent with such history and knowledge of her own HIV status, and document such history in the medical record.
   2. Ensure that data required by the department for program evaluation and, in the case of HIV positive newborns, for patient follow-up, is collected and provided to authorized staff at the department.
   3. Submit to the department information on prior HIV testing and treatment history of the mother for the purposes of medical audits; such information shall be kept confidential as required by Public Health Law section 206(1)(j).

69-1.5 Duties of the responsible physician

Effective Date: 02/01/1997

The responsible physician shall:

1. fully inform the parent of the purpose and need for newborn screening, and interpret all test results;
2. conform with the specimen collection and submission procedures specified in section 69-1.3 of this Part.
3. promptly collect and submit repeat specimens requested by the testing laboratory. All repeat specimens shall be clearly marked REPEAT;
4. include in the infant's health record the test results received from the chief executive officer or from the testing laboratory;
5. in the case of confirmed abnormal test results, arrange for diagnostic evaluation and case management with an approved specialized care center;
6. provide case information, specimens and other information for tracking and follow-up reviews requested by the testing laboratory; and
7. in the case of newborns who test positive for HIV antibodies, in addition to applicable preceding requirements:
   1. provide or arrange for post-test counseling for the mother or, if the mother lacks capacity to consent to health care for the newborn, for the person authorized by law to give such consent; and
   2. provide or arrange for health care, case management and other social services as needed for the newborn; and
   3. maintain the newborn HIV test result securely and confidentially in the medical record of the newborn in accordance with Public Health Law Article 27-F; and
   4. provide the mother with referrals for health and social services as needed and transfer a copy of the newborn's HIV test result to the mother's physician as permitted by Public Health Law Article 27-F; and
   5. submit specimens, as specified by the testing laboratory, to the testing laboratory to determine the HIV infection status of the infant; or submit documentation of such test results from a permitted laboratory; or
   6. refer the mother and newborn to an HIV specialized care center for provision of the services required by paragraphs (1) through (5) of this subdivision.

69-1.6 Responsibilities of the public health officer

Effective Date: 12/06/1989

The public health officer shall:

1. inform the parent of the importance and need for newborn screening and distribute educational materials provided by the testing laboratory;
2. collect or cause a repeat specimen to be collected when notified of the need for a repeat specimen by the testing laboratory. The specimen must be submitted within 24 hours of collection; and
3. submit written documentation to the testing laboratory of efforts made to secure such repeat specimen if a repeat specimen is not obtained.

69-1.7 Responsibilities of the specialized care centers

Effective Date: 02/01/1997

The director of a specialized care center shall:

1. provide consultation and assistance to hospitals, physicians, the testing laboratory and other health care providers upon request;
2. provide diagnostic evaluation and treatment of each infant referred for evaluation and consultation and assistance to the infant's parent;
3. provide case information, specimens and other information for tracking and follow-up reviews requested by the testing laboratory; and
4. in the case of HIV specialized care centers, in addition to the preceding applicable requirements, upon request by the responsible physician for each HIV positive newborn identified by the testing laboratory:
   1. provide or arrange for post-test counseling for the mother or, if the mother lacks capacity to consent to health care for the newborn, for the person authorized by law to give such consent;
   2. provide or arrange for health care, case management and other social services as needed for the newborn;
   3. maintain the newborn HIV test result securely and confidentially in the medical record of the newborn in accordance with Public Health Law Article 27-F;
   4. provide or arrange for the mother's health and social services as needed; and transfer a copy of the newborn's HIV test result to the mother's health care provider as permitted by Public Health Law Article 27-F;
   5. submit specimens, as specified by the testing laboratory, to the testing laboratory to determine the HIV infection status of the infant; or submit documentation of such test results from a permitted laboratory.

69-1.8 Follow-up, review, tracking and educational activities

Effective Date: 12/06/1989

The testing laboratory shall:

1. record requested diagnoses and case follow-up information submitted by health care providers and specialty care centers;
2. maintain tracking records on identified cases; and
3. provide educational activities and materials.

69-1.9 Inapplicability of this Part

Effective Date: 12/06/1989

This Part shall not apply in the case of any infant or child whose parent or guardian is a member of a recognized religious organization whose teachings and tenets are contrary to the testing required by this Part and who notifies the person charged with having such tests administered of his objection thereto.