4100 Family Health Services
4107 Testing Of Newborn Infants For Metabolic, Hematologic And Endocrinologic Disorders
Under the authority granted to the Department of Health and Social Services, Division of Public Health under 16 Del.C. §122(1), 16 Del.C. §122(3)(h), and 29 Del.C. §7904 the Department of Health and Social Services, Division of Public Health, State of Delaware adopts the following regulations pertaining to the testing of newborns for various disorders.
PURPOSE: These regulations describe the Newborn Screening Program administered by the Delaware Division of Public Health. Under the authorization of the statues listed above, each newborn delivered in the state must be provided a panel of screening tests to identify certain metabolic, hematologic and endocrinologic disorders that may result in developmental delay, mental retardation, serious medical conditions, or death.
These regulations clarify responsibilities among the parties involved.
These regulations apply to each newborn infant born in the State. The responsibility for implementation of the regulations rests with the institution in which the infant is born, or if an infant is born outside an institution, with the person required to prepare and file the certificate of birth and with the newborn’s primary care provider.
1.0 Definitions
“Blood Specimen For Metabolic, Hematologic And Endocrinologic Disorders” means a dried blood spot on a special filter paper utilized for screening (not diagnostic) tests to establish the likely presence of certain metabolic, hematologic or endocrinologic disorders.
“Designated Laboratory” is the laboratory or laboratories, which have been selected by the Division of Public Health to perform these services.
“Endocrinologic Disorder” means the absence or deficiency of a hormone resulting in interference with normal health, growth or development. These disorders include Congenital Hypothyroidism (CH) and Congenital Adrenal Hyperplasia (CAH).
“Hematologic Disorder” means, in these regulations, a condition in which a variation in one or more of the hemoglobin structural genes or in one or more of the genes involved in hemoglobin synthesis produces a variation in hemoglobin structure or synthesis, which result in variation in hemoglobin function. The term “hemoglobinopathies” includes sickle cell anemia, sickle cell hemoglobin C disease (SC disease), sickle beta thalassemia, beta thalassemia, alpha thalassemia, hemoglobin C disease and other clinically important variations in hemoglobin structure or synthesis.
“IMF” stands for Insufficient Milk Feeding, which is an inadequate time frame for milk feedings (<24 hours) prior to obtaining the blood spot specimen.
“Kit” means any or all parts of the combined materials, laboratory filter paper specimen forms, lancets, envelopes, Newborn Screening Program brochure, and/or other components provided by the State Newborn Screening Program for the purposes of collection of the blood spot specimen and for submission of the blood spot specimen for laboratory testing.
“Metabolic Disorder” means a disorder caused by a genetic alteration, which results in a defect in the structure or function of a specific enzyme or other protein. These disorders include, but are not limited to, Phenylketonuria (PKU), Galactosemia, Maple Syrup Urine Disease (MSUD), and Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency.
“Newborn Infant” means any infant born in the state who is under 4 weeks of age.
“Satisfactory Specimen” means a blood spot specimen on which an accurate laboratory analysis for the various disorders can be performed.
“The Newborn Screening Advisory Committee” means a committee, established through the Division of Public Health Newborn Screening Program, convened to provide advice and guidance to the Newborn Screening Program. Members include, but are not limited to: individuals or parents of individuals with one of the disorders for which screening is performed; physicians not employed by the Division of Public Health who have expertise in the disorders for which screening is performed; an attorney not employed by the Division of Public Health; an ethicist not employed by the Division of Public Health; representatives of relevant agencies within the Department of Health and Social Services. The Committee meets at least semi-annually. The Director of the Division of Public Health will appoint members after recommendation by the Newborn Screening Program.
“Unsatisfactory Specimen” means a blood spot specimen which is of insufficient quantity; or a blood spot specimen on which an accurate analysis for the various disorders cannot be performed.
2.0 Determination Of Required Screens
2.1 The Director of the Division of Public Health or designee shall determine the disorders subject to screening tests.
3.0 Persons Responsible For Submitting Blood Spot Specimens For Screening For Metabolic, Hematologic And Endocrinologic Disorders
3.1 The person or institution responsible for assuring that a satisfactory blood spot specimen is submitted for testing newborns for metabolic, hematologic and endocrinologic disorders shall be, in order of responsibility:
3.1.1 the hospital, birthing facility or other licensed health care facility in which the newborn is born,
3.1.2 the newborn’s primary care provider; or, if no provider is identified;
3.1.3 the parent or legal guardian.
3.2 In cases of newborns entering a health care facility before 48 hours of age as result of transfer from another facility or of an infant not born in a hospital or other licensed health care facility, the receiving facility shall be responsible for the timely collection of the blood spot specimen.
4.0 Manner Of Submitting Blood Spot Specimens
4.1 All dried blood spot specimens submitted to the designated laboratory for testing shall be collected using kits available from the Newborn Screening Program office and/or designated laboratory.
4.2 Blood spot specimens collected for testing shall be forwarded from the institution at which the specimen is collected to the designated laboratory within 24 hours of collection, either by the designated Division of Public Health courier or by mail.
5.0 Timing Of Collecting The Blood Spot Specimen For Screening Infants
5.1 A blood spot specimen for screening for metabolic, hematologic, and endocrinologic disorders shall be collected prior to hospital discharge, but in no event later than 3 days after birth from every newborn infant as follows:
5.1.1 For infants born outside of a hospital or other health care facility a specimen shall be collected not sooner than 24 hours after the onset of milk feeding, but no later than 3 days after birth, preferably between 36 and 72 hours of birth. A second specimen is to be collected between 7 and 28 days of age.
5.1.2 For infants who are born in a hospital or health care facility or who are born outside and transferred into the hospital and who will remain in the hospital for 24 hours of milk feedings or more a blood spot specimen shall be collected not sooner than 24 hours after the onset of milk feeding, but no later than 3 days after birth, preferably between 36 and 72 hours after birth. A second blood spot specimen is to be collected between 7 and 28 days of age.
5.1.3 For pre term or sick newborns, the initial blood spot specimen may be collected as late as 3 days of age and must be collected no later than 3 days regardless of birth weight, illness or nutritional status. The second dried blood spot specimen on preterm or sick newborns is to be done at hospital discharge or 28 days of life which ever comes first.
5.1.4 When an infant is discharged from a hospital or other health care facility before 24 hours of milk feedings a blood spot specimen shall be obtained immediately prior to discharge from the facility and a second dried blood spot specimen shall be obtained after 3 days of age and before 14 days of age.
6.0 Procedures For Follow Up Of Dried Blood Spot Specimens That Were Obtained Prior To 24 Hours Of Milk Feeding (Imf) And For Those Whose Results Are Designated As Abnormal Or Suspicious
6.1 The hospital or institution of birth or the hospital to which a newborn is transferred shall develop adequate procedures to insure that a satisfactory blood spot specimen is collected by the time each newborn is 2 weeks old from each newborn who is described by one or more of the following categories:
6.1.1 a newborn that is discharged from the institution prior to 24 hours of milk feedings (IMF).
6.1.2 a newborn on which the blood spot specimen is reported by the laboratory as “unsatisfactory”.
6.2 The hospital or institution of birth, the hospital to which a newborn is transferred and the primary care provider of the newborn shall cooperate with the Newborn Screening Program in completing follow up of newborns whose blood spot specimen result is designated as “abnormal” or “suspicious.” This cooperation shall include:
6.2.1 providing appropriate demographic information to the Newborn Screening Program as requested on each baby whose blood spot specimen result is designated as “abnormal” or “suspicious,”
6.2.2 providing the Newborn Screening Program with clinical information on each newborn as necessary for interpretation of the results of the testing of the blood spot specimen.
7.0 Reporting Of Results Of Newborn Screening Tests
7.1 The designated laboratory shall report the results to the Newborn Screening Program as designated in the contract.
7.2 The Newborn Screening Program shall contact with abnormal results the parent or legal guardian and primary health care provider in writing and/or by telephone.
7.3 A copy of the Newborn Screening laboratory report shall be available to the parent or legal guardian upon request made to the birth hospital medical record department or their primary health care provider.]
8.0 Confidentiality Of Records
8.1 The Newborn Screening Program shall maintain and treat as confidential all newborn screening communications with institutions, families and health care providers. The Newborn Screening Program shall maintain and treat as confidential a record of every newborn in whom a diagnosis of one or more of the various metabolic, hematologic, or endocrinologic disorders is confirmed.
8.2 Information may be disclosed by the Newborn Screening Program in summary forms, which do not identify individuals. Individuals or institutions requesting summary data must submit a proposal to the Newborn Screening Program and to the Institutional Review Board of the Division of Public Health.
9.0 Fees For Newborn Screening Tests Performed In The Designated Laboratory
9.1 The Division of Public Health Newborn Screening Program shall bill the institution or individual for services provided to the institution or individual for each newborn screened under these regulations including but not limited to, the cost of the kits for collection of specimens, the laboratory fee for analysis, and administrative costs. The fee will be determined annually (in July) based on cost of the program.
9.2 No Delaware newborn shall be denied testing for hereditary disorders because of inability of the newborn's parentor legal guardian to pay the fee. A "Statement of Fee Exemption" form will be provided to the practitioner or parent requesting exemption from fees. This form must be completed and submitted to the Newborn Screening Program Office within 30 days of birth.
10.0 Religious Exemption From Testing
10.1 A newborn may be excused from screening if the parent or legal guardian objects to the tests because the screening tests conflict with the religious tenets or practices of the parent or legal guardian.
10.2 In the event a religious exemption is claimed from the requirements for testing for Hereditary Disorders, the person otherwise responsible for submitting the specimen for testing shall be responsible for submitting a completed affidavit to the Delaware Newborn Screening Program Office, signed by the infant's parent or legal guardian, using the following language:
1. (I) (We) (am) (are) the (parent(s)) (legal guardian(s)) of (name of child)
2. (I) (We) hereby (swear) (affirm) that (I) (we) subscribe to a belief in a relation to a Supreme Being involving duties superior to those arising from any human relation.
3. (I) (We) further (swear) (affirm) that our belief is sincere and meaningful and occupies a place in (my) (our) life parallel to that filled by the orthodox belief in God.
4. This belief is not a political, sociological or philosophical view of a merely personal moral code.
5. This belief causes (me) (us) to request an exemption from the requirements for testing for Hereditary Disorders by the Delaware Newborn Screening Program for _____________________ (name of child).
_________________________
Signature of Parent (s) or
Legal Guardian(s)
SWORN TO AND SUBSCRIBED before me, a registered Notary Public, this __day of ________, 200__.
__________________________ (Seal)
Notary Public
My Commission Expires:
10.3 The Newborn Screening Refusal Form will be provided through the Newborn Screening Program Office.
11.0 Penalty For Non-compliance
Under the Authority granted to the Department of Health and Social Services, Division of Public Health under 16 Del.C §107, "whoever refuses, fails or neglects to perform the duties required under this chapter, or violates, neglects or fails to comply with the duly adopted regulations or orders of the Division shall be fined not less than $100 and not more than $1,000, together with costs, unless otherwise provided by law."
8 DE Reg. 100 (7/1/04)
Please note: The DHSS regulations on this website are not as yet complete. In conjunction with the Delaware Registrar of Regulations, DHSS is in process of compiling regulations relating to Title 16, as part of the continuing project to develop the Delaware Administrative Code.
