TITLE 7 HEALTH
CHAPTER 30 FAMILY AND CHILDREN HEALTH CARE SERVICES
PART 6 NEWBORN GENETIC SCREENING PROGRAM
7.30.6.1 ISSUING AGENCY: New Mexico Department of Health.
[7.30.6.1 NMAC - Rp, 7 NMAC 30.6.1, 10/30/12]
7.30.6.2 SCOPE: Universal screening of all infants born in
New Mexico (NM) for the congenital conditions listed and defined herein shall
be done through a statewide screening program established through the public
health division. The department shall
institute and carry on such laboratory services or may contract with another
agency or entity to provide such services as are necessary to detect the
presence of congenital disorders.
[7.30.6.2 NMAC - Rp, 7 NMAC 30.6.2, 10/30/12]
7.30.6.3 STATUTORY AUTHORITY: The statutory
authority for these regulations is contained in Section 9-7-6 NMSA 1978 and
Section 24-1-6 NMSA 1978 as amended Laws 1981, Chapter 95, Sec. 1.
[7.30.6.3 NMAC - Rp, 7 NMAC 30.6.3, 10/30/12]
7.30.6.4 DURATION: Permanent.
[7.30.6.4 NMAC - Rp, 7 NMAC 30.6.4, 10/30/12]
7.30.6.5 EFFECTIVE DATE: October 30, 2012, unless a later date is
cited at the end of a section.
[7.30.6.5 NMAC - Rp, 7 NMAC 30.6.5, 10/30/12]
7.30.6.6 OBJECTIVE: The purpose of these
regulations is to establish standards and procedures to assure congenital
metabolic conditions and other genetic disorders which can cause significant
mental or physical retardation or significant morbidity or mortality can be
detected by screening newborn infants.
Early detection and prompt referral for treatment may help prevent death
and alleviate the effects of these disorders.
These rules provide for screening tests to be performed on every newborn
except where, in accordance with these rules, the parents or guardians waive
this requirement in writing.
[7.30.6.6 NMAC - Rp, 7 NMAC 30.6.6, 10/30/12]
7.30.6.7 DEFINITIONS:
A. “Children’s medical service” (“CMS”) is
a unit of the public health division in the NM department of health that
engages in:
(1) identification of
children and youth with, or at risk for having, special health care needs
(CYSHCN);
(2) provision of
preventive, diagnostic, treatment services and care coordination toward the
attainment of maximum health for children with special health care needs, and
adults with cystic fibrosis;
(3) promotion of the development of quality health
care and outcome measures for this population (children and youth with special
health care needs);
(4) monitoring these outcomes and the impact of
changes in the health care system for this population;
(5) technical assistance and training for
individuals serving this population; and
(6) administration of the
universal newborn hearing screening program and the newborn genetic screening
program, and other necessary administrative services to assess the needs of
this population, facilitating access to care, and providing services.
B. “Hospital” means
a hospital or other institution having facilities for childbirth.
C. “Neonatal intensive
care unit” (“NICU”) means an intensive care unit specializing in the care
of ill or premature newborn infants.
D. “Newborn genetic screening program”
means a unit of the public health division under children’s medical services
department that engages in:
(1) surveillance, assurance
and policy development;
(2) public and provider
education;
(3) follow-up (both
short-term and long-term) to assure quality of care for infants who have
abnormal results on screening; and
(4) provision of
efficient service coordination between families and their infants, between the
contracted laboratory and other involved entities.
E. “Primary care physician”
(“PCP”) means a family practitioner, pediatrician, physicians assistant, nurse
practitioner, general practitioner, or midwife that will be assuming the
continuing care of the infant after discharge from the birth facility or after homebirth.
F. “Parents or
guardians” means persons with legal decision making authority for the
child.
[7.30.6.7 NMAC - Rp, 7 NMAC 30.6.7, 10/30/12]
7.30.6.8 DISORDERS:
A. Disorders
for which screening shall be performed include the following:
(1) 3-mthylcrotonyl-CoA deficiency;
(2) 3-OH 3-CH3 glutaric aciduria;
(3) argininosuccinic academia;
(4) mitochondrial acetoacetyl-CoA;
(5) biotinidase deficiency;
(6) carnitine uptake defect;
(7) citrullinemia;
(8) congenital adrenal hyperplasia;
(9) congenital hypothyroidism;
(10) cystic fibrosis;
(11) galactosemia;
(12) glutaric academia type I;
(13) Hb S/beta-thalassemia;
(14) hearing deficiency;
(15) homocystinuria;
(16) isovaleric
academia;
(17) long-chain L-3-OH acyl-CoA dehydrogenase
deficiency;
(18) maple syrup urine disease;
(19) medium chain acyl-CoA dehydrogenase deficiency;
(20) methylmalonic
academia;
(21) multiple carboxylase deficiency;
(22) phenylketonuria;
(23) proponic academia;
(24) sickle cell anemia;
(25) trifunctional protein deficiency;
(26) tyrosinemia type I; and
(27) very long-chain acyl-CoA dehydrogenase
deficiency.
[7.30.6.8 NMAC - N, 10/30/12]
7.30.6.9 NEWBORN BLOOD SAMPLE
COLLECTION:
A. Every newborn infant, whether born in a
hospital, birthing center, or at home shall receive tests on two newborn screening
blood samples; unless the parents or guardians, after being informed of the
reasons for the tests, waive the requirements for the tests in writing.
(1) The
first blood sample shall be obtained, between 24-48 hours of age.
(2)
The second blood sample shall be obtained
between the 10th and 14th day after birth.
(3)
Second screens may be taken at a hospital,
outpatient medical clinic and facility, outpatient laboratory, primary care
provider’s office or by a midwife.
B. All
birthing facilities, and midwives, in NM are required to practice uniform
discharge screening regardless of the age or feeding status of the newborn.
C. Prematurity
and transfusion status will be noted on the collection form in the space
provided. Newborns who require any
anticipated blood transfusion shall have a blood sample taken before the
procedure. In those rare events where a
screen was obtained after a transfusion, the facility is still required to
submit the specimen for screening.
D. All birthing hospitals, birthing
centers, and midwives will inform the parents of the requirement for a second
screen prior to discharge. The PCP, birthing hospital, midwives, nurses, nurse
practitioner or physician shall give the parents educational brochures supplied
by program, and shall advise them where the test may be obtained.
E. In the case of inter-hospital transfer of an infant, the
transferring hospital shall provide written notification to the receiving
hospital indicating whether or not a specimen has been taken prior to transfer.
(1) Infants
who are transferred to another facility within 48 hours of birth shall be
tested by the receiving facility.
(2) If a
newborn screening kit has been issued by the birth hospital to the infant, it
shall be sent with the infant ensuring that both facilities are notified of the
results.
(3) Following transfer, the receiving hospital
shall assume responsibility for collection of the specimen in accordance with
these rules.
[7.30.6.9 NMAC - Rp, 7 NMAC 30.6.8, 10/30/12]
7.30.6.10 WAIVER:
A. Pursuant to Section 24-1-6 NMSA 1978, parents or
guardians may waive the requirements for newborn screening tests in writing.
B. The department’s newborn screening program
will provide the hospital, birthing centers, and midwives with forms for
waiver.
C. The infant’s
PCP, midwife, or nurse shall provide parents or guardians with both written and
oral explanations before the parents or guardians may sign a waiver for newborn
screening test. The decision to waive
screening will be acknowledged by signature of the parents or guardian on the
form provided by the department. The
document of waiver shall be placed in the child’s hospital medical record and a
copy shall be sent to the children’s medical services newborn screening program
and a copy to the parent(s).
D. The waiver will
not be used for the purpose of changing the times of the screening or for
submitting only a single screen; it is used to waive the newborn screening
tests in their entirety. No
modifications can be placed on the form.
[7.30.6.10 NMAC - Rp, 7 NMAC 30.6.9,
10/30/12]
7.30.6.11 COLLECTION AND SCREENING PROCEDURES:
A. Newborn screening collection kits
shall only be purchased from the NM department of health’s children’s medical services
newborn screening program.
B. The department
of health’s newborn screening program shall set the rate for newborn screening
kits. The fees collected from purchase
of the kits shall be utilized by the program for testing, quality assurance,
and follow up of newborn screening conditions.
C. Each newborn
screening kit shall be completely filled out for each blood sample. The following is required to be completed on
each newborn screening kit:
(1) demographic area. All
contact information for mother must be completed as well as additional contact
information for the mother or a relative;
(2) name and phone number
of PCP or provider who will be following the newborn after discharge;
(3) specimen date and
time; and
(4) name and signature of
person collecting specimen.
D. Types of kits that can be used.
(1) Hospitals, birthing
centers, and midwives may only purchase newborn screening double kits.
(2) NICUs, outpatient
laboratories, clinics, and PCP offices may purchase a limited number of newborn
screening single kits at a time.
(3) NICUs in NM shall
purchase triple kits to be used in their units only, and they shall be used in
accordance with clinical and laboratory standards institute guidelines for
collection of newborn screening for pre-term, low birth weight, and sick newborns.
(4) Newborn screening
single kits are only to be used in NICUs for additional screening, or only in
the event a parent misplaces kits, or the birthing facility does not give the
kit to the parent at discharge.
(5) Each newborn screening
double kit is for one newborn and is not to be split between two newborns.
(6) A limited number of
single kits will be placed at public health offices across the state as a
safety net for parents to obtain kits in the event they misplace, lose a kit,
or the birthing facility in error does not send the second half of the double
kit home with the parent.
E. All first
newborn screens will be shipped by overnight courier assigned by the department
of health newborn genetic screening program. Specimens will be shipped to the address
indicated on the collection form within 24 hours of the time that the sample is
taken.
[7.30.6.11 NMAC - N, 10/30/12]
7.30.6.12 FOLLOW-UP PROCEDURES:
A. All results will
be reported to the hospital and infants PCP for placement in the child’s
medical record.
B. In the event of positive or
questionable screening test results, the department of health’s children’s medical
services newborn screening program and or contracted outreach lab short-term
follow-up program will immediately contact and inform the PCP of the need for
further testing. The primary care
physician will be responsible for contacting and informing the parents or
guardians of the need for further testing.
C. In the event no PCP
is named on the newborn screening form the newborn screening program will pursue
follow-up with the parents or guardians directly.
[7.30.6.12 NMAC - N, 10/30/12]
7.30.6.13 STORAGE OF NEWBORN SCREENING SPECIMENS:
A. The newborn screening
program of the department of health or contracted laboratory may store the blood
samples of newborns collected for the screening of genetic disorders for up to
one year. After that time, the blood
samples shall be destroyed.
B. The newborn screening
program may change the length and conditions of storage if the program
determines that such a change is necessary.
C. Bloodspot cards
shall not be disseminated after blood spot testing for any purpose unrelated to
newborn screening, except to parents or guardians who may request them in writing
during the retention period.
[7.30.6.13 NMAC - N, 10/30/12]
HISTORY OF 7.30.6 NMAC:
Pre-NMAC History: The material in this part
was derived from that previously filed with the State Records Center:
HSSD 77-2, Regulations
On Phenylketonuria, 5/4/77.
HED 79-HSD-1, Newborn
Screening Program Regulations, 6/28/79.
HED 89-8 (PHD), Newborn
Screening Program Regulations, 9/12/89.
DOH 92-02 (PHD), Newborn
Screening Program Regulations, 10/5/92.
History of Repealed Material:
7 NMAC 30.6, Newborn
Genetic Screening Program, filed 10/18/1996 - Repealed effective 10/30/2012.