††††† 902 KAR 4:030. Newborn Screening Program.

 

††††† RELATES TO: KRS 214.155

††††† STATUTORY AUTHORITY: KRS 194A.050, 211.090, 214.155

††††† NECESSITY, FUNCTION, AND CONFORMITY: KRS 214.155 requires the Cabinet for Health and Family Services to operate a newborn screening program for inborn errors of metabolism and other inherited disorders, and to establish a schedule of fees to cover the actual costs to the cabinet for the program. This administrative regulation requires that infants be tested for inborn errors of metabolism and other inherited disorders as specified in KRS 214.155, and establishes the schedule of fees to cover actual costs of the Newborn Screening Program.

 

††††† Section 1. Definitions. (1) "Laboratory" means the Division of Laboratory Services within the Cabinet for Health and Family Services, Department for Public Health.

††††† (2) "Program" means the Newborn Screening Program for heritable disorders operated by the Cabinet for Health and Family Services, Department for Public Health.

††††† (3) "Submitter" means any hospital, primary care provider, health department, birthing center, laboratory, or midwife submitting an infantís blood specimen for the purpose of newborn screening.

 

††††† Section 2. Tests for inborn errors of metabolism or other inherited disorders for newborn infants as part of newborn screening shall include the following tests:

††††† (1) 3-methylcrotonyl-CoA carboxylase deficiency (3MCC);

††††† (2) 3-OH 3-CH3 glutaric aciduria (HMG);

††††† (3) Argininosuccinic acidemia (ASA);

††††† (4) Beta-ketothiolase deficiency (BKT);

††††† (5) Biotinidase disorder;

††††† (6) Carnitine uptake defect (CUD);

††††† (7) Citrullinemia (CIT);

††††† (8) Congenital adrenal hyperplasia (CAH);

††††† (9) Congenital hypothyroidism;

††††† (10) Cystic fibrosis (CF);

††††† (11) Galactosemia;

††††† (12) Glutaric acidemia type I (GA I);

††††† (13) Hb S/beta-thalassemia (Hb S/Th);

††††† (14) Hb S/C disease (Hb S/C);

††††† (15) Homocystinuria (HCY);

††††† (16) Isovaleric acidemia (IVA);

††††† (17) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD);

††††† (18) Maple syrup urine disease (MSUD);

††††† (19) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD);

††††† (20) Methylmalonic acidemia (Cbl A,B);

††††† (21) Methylmalonic acidemia mutase deficiency (MUT);

††††† (22) Multiple carboxylase deficiency (MCD);

††††† (23) Phenylketonuria (PKU);

††††† (24) Propionic acidemia (PA);

††††† (25) Short-chain acyl-CoA dehydrogenase deficiency (SCAD);

††††† (26) Sickle cell disease;

††††† (27) Trifunctional protein deficiency (TFP);

††††† (28) Tyrosinemia type I (TYR I); and

††††† (29) Very long-chain acyl-CoA deficiency (VLCAD).

 

††††† Section 3. Submitter Responsibilities. (1) Except as provided in KRS 214.155(4), the administrative officer, or other person in charge of the hospital or institution caring for newborn infants, and the attending physician or midwife shall administer to, or verify administration of tests to, every infant in its care, a blood test to detect inborn errors of metabolism or other inherited disorders identified in Section 2 of this administrative regulation prior to hospital discharge. If a baby is not born in a hospital or institution, the attending physician or midwife shall be responsible for ensuring that these tests are administered between twenty-four (24) and forty-eight (48) hours of age.

††††† (2) A capillary blood specimen shall be obtained from a newborn infant, not requiring an extended stay due to illness or prematurity, between twenty-four (24) and forty-eight (48) hours of age.

††††† (3) If the infant is to remain in the hospital due to illness or prematurity, the hospital shall obtain the capillary blood specimen from that infant after twenty-four (24) and before seventy-two (72) hours of age.

††††† (4) If an infant is transferred from the birth hospital to another hospital during the newborn hospital stay, the following rules shall apply:

††††† (a) The sending hospital shall obtain the capillary blood specimen for the newborn screening blood test if the infant is twenty-four (24) hours of age or more when the infant is transferred to another hospital.

††††† (b) The receiving hospital shall ensure the newborn screening blood test is performed if the infant is less than twenty-four (24) hours of age when the infant is transferred.

††††† (5) If the information on the filter paper specimen card obtained by the submitter and sent to the laboratory is incomplete or inadequate, then the submitter, upon request of the program, shall use all reasonable efforts to locate the infant and obtain a complete and adequate specimen within ten (10) days. If the submitter is unable to obtain the specimen within ten (10) days, this shall be reported to the program.

††††† (6) that are responsible for the collection of the initial specimen for newborn screening shall:

††††† (a) Provide to an infantís parent or guardian educational materials regarding newborn screening;

††††† (b) Designate a newborn screening coordinator and physician responsible for the coordination of the facilityís newborn screening compliance;

††††† (c) Notify the program of the name of the individuals designated in subsection (6)(b) of this section each year in January and if the designated individual changes and;

††††† (d) Develop a written protocol for tracking newborn screening compliance. This protocol shall be submitted to the program each year in January.

††††† 1. The protocol shall include a requirement that the name of the physician attending the infant after birth or discharge, or a designee be placed on the filter paper specimen card sent with the initial specimen to the laboratory;

††††† 2. The protocol shall include verification that each infant born at that facility has had a specimen obtained for newborn screening on or before discharge and notification shall occur to the program within seven (7) days if any infant is missed; and

††††† 3. The hospital or facility that identifies that an infant has not had a specimen obtained for newborn screening prior to discharge shall use every reasonable effort to locate the infant and recommend that they present to the hospital or their primary care provider for a newborn screening specimen to be obtained.

††††† (e) Hospitals or facilities shall report all written refusals, in accordance with KRS 214.155(4), to the program within seven (7) days.

 

††††† Section 4. Specimen Collection. (1) Capillary blood specimens required in Section 3 of this administrative regulation shall be obtained by a heel stick. Blood from the heel stick shall be applied directly to filter paper specimen card. All circles shall be saturated completely using a drop of blood per circle on a filter paper specimen card. The specimen collector shall provide, on the filter paper specimen card, information requested by the laboratory.

††††† (2) The capillary blood specimen shall be air dried for three (3) hours and then shall be mailed or sent to the laboratory within twenty-four (24) hours of collection of the specimen or the next business day in which mail or delivery service is available.

††††† (3) Submitters send submit blood specimens to the Cabinet for Health and Family Services, Department for Public Health, Division of Laboratory Services, P.O. Box 2010, Frankfort, Kentucky 40602.

††††† (4) Specimens processed or tracked under the newborn screening program shall be limited to specimens on infants less than six (6) months of age.

 

††††† Section 5. Unsatisfactory or Inadequate Specimen. (1) If a specimen is unsatisfactory or inadequate to produce a valid result, the laboratory shall notify the submitter and the primary care provider on the filter paper specimen card by mail that the newborn screen needs to be repeated as soon as possible.

††††† (2) If a requested repeat specimen has not been received within ten (10) business days from the date the repeat request was issued, the laboratory shall notify the parent by mail of the need for a repeat screening test.

 

††††† Section 6. Special Circumstances - Blood Transfusion. If a newborn infant requires a blood transfusion, the following rules for newborn screening shall apply:

††††† (1) The hospital shall obtain a capillary blood sample for newborn screening prior to the infant being transfused, except in an emergency situation.

††††† (2) If the pretransfusion sample was obtained before twenty-four (24) hours of age, or if it was not obtained due to an emergency situation, then the hospital or primary care provider shall use all reasonable efforts to obtain a repeat capillary blood specimen from the transfused infant and submit it to the laboratory according to the following schedule:

††††† (a) Seventy-two (72) hours after last blood transfusion, rescreen for inborn errors of metabolism and inherited disorders listed in Section 2 of this administrative regulation; and

††††† (b) Ninety (90) days after last blood transfusion, rescreen for any disorder that relies on red blood cell analysis such as hemoglobinopathies, galactosemia, and biotinidase deficiency.

 

††††† Section 7. Reporting of Results. (1) Normal Results. Upon receipt of normal lab results, the laboratory shall mail results to the primary care provider and the submitter.

††††† (2) Abnormal Results.

††††† (a) Submitters and primary care providers shall receive a copy of all abnormal, presumptive positive, and equivocal results by mail.

††††† (b) In addition to receiving mailed results, primary care providers shall be notified of presumptive positive and equivocal results in the following manner:

††††† 1. Upon receipt of a presumptive positive lab result the program shall immediately notify the primary care provider listed on the filter paper specimen card of the result and recommend appropriate follow-up testing.

††††† 2. Upon receipt of an equivocal result, the program shall notify the primary care provider on the filter paper specimen card within two (2) business days of the result and next step recommendations.

††††† 3. If the program is unable to ascertain a correct primary care provider for a specimen to be obtained, for repeat screen or referral, they shall contact the parent of the infant.

††††† (c) The Cabinet for Health and Family Services shall share pertinent test results with state university-based specialty clinics or primary care providers who inform the cabinet that they are treating the infant who received the test, and may share pertinent test results with the local health department in the infant's county of residence that conducts newborn screening follow-up activities. These specialty clinics or primary care providers shall report results of diagnostic testing to the program within thirty (30) days or earlier upon request.

††††† (d) The laboratory shall report abnormal, presumptive positive, or equivocal results of tests for inherited disorders and inborn errors of metabolism to the program on behalf of the hospitals and submitters.

††††† (e) If a requested repeat specimen has not been received within ten (10) business days from the date the repeat request was issued, the program shall notify the parent by mail of the need for a repeat screening test.

 

††††† Section 8. Newborn Screening Fees. (1) Submitters obtaining and sending a blood specimen to the laboratory shall be billed a fee of $53.50 for the initial newborn screening test.

††††† (2) Submitters obtaining and sending a repeat blood specimen to the laboratory shall not be charged an additional fee of $53.50.

††††† (3) Fees due the Cabinet for Health and Family Services shall be collected through a monthly billing system. (MCH-3; 1 Ky.R. 640; eff. 4-9-75; Am. 6 Ky.R. 314; eff. 1-2-80; 9 Ky.R. 386; 555; eff. 10-6-82; 11 Ky.R. 652; eff. 11-13-84; 13 Ky.R. 786; eff. 11-11-86; 14 Ky.R. 2069; eff. 6-22-88; 21 Ky.R. 578; eff. 9-21-94; 32 Ky.R. 2036; 1487; 2274; eff. 6-21-2006.)