Newborn Screening Act Newborn Screening Act of 2004of 2004
IntroductionIntroduction
Newborn Screening is a simple procedure to determine whether a baby has congenital metabolic disorder that may lead to mental retardation and even death if left untreated.
Disorders includedDisorders included
Congenital hypothyroidism (CH)Congenital adrenal hyperplasia (CAH)Galactosemia (GA)Phenylketonuria (PKA)Glucose-6-phosphate dehydrogenase
deficiency (G6PD def)
Congenital hypothyroidismCongenital hypothyroidism
Deficiency in the production of thyroid hormonePrevalence: 1:3,350Poor growth, mental retardation, deafness and
neurological abnormalities can result without prompt identification and treatment.
Early diagnosis and adequate treatment with thyroxine within the first weeks of life results in normal growth and intelligence.
Congenital adrenal hyperplasiaCongenital adrenal hyperplasia
A group of inherited disorders caused by abnormalities in specific enzymes of the adrenal gland
Ninety percent of congenital adrenal hyperplasia cases are caused by the lack of the enzyme steroid 21-hydroxylase
Prevalence: 1:13,500 Babies with untreated congenital adrenal hyperplasia may
develop vomiting and severe dehydration (aldosterone deficient, salt-wasting CAH), which can be life threatening
Increased production of androgens can result in ambiguous genitalia in infants
PhenylketonuriaPhenylketonuria
Autosomal recessive disorder caused by the lack of phenylalanine hydroxylase, the enzyme that converts the amino acid phenylalanine to tyrosinePrevalence: 1:20,000
Without early diagnosis and strict adherence to a special diet, brain damage and mental retardation can occur
Phenylalanine is present in almost all foods
GalactosemiaGalactosemia
Autosomal recessive disorderPrimary form is a deficiency of GALT
galactose-1-phosphate uridyl transferaseenzyme needed to break down the milk sugar lactose
Prevalence: 1:60,000Life-threatening galactosemia, mental
retardation,and blindness can occurClinical symptoms may present as early as
the first week of life.
Newborn screening is done on the 48 hours or at least 24 hours from birth.
The baby must be screened again after 2 weeks for more accurate result.
A physician, medical technologist, nurse, a midwife can collect sample for newborn screening.
A few drops of blood are obtained from the baby’s heel and blotted on a special absorbent filter card.
Republic Act no. 9288Republic Act no. 9288
An Act promulgating a comprehensive policy and a national system for ensuring newborn screening.
Article 1: General ProvisionArticle 1: General Provision
Section 1: Short Title:◦“Newborn Screening Act of 2004”
Section 2: Declaration of Policy◦The state shall protect and promote the right to health of
the people, including the rights of children to survival and full and healthy development as normal individuals.
◦The state shall institutionalize a national newborn screening system that is comprehensive, integrative, and sustainable and will facilitate collaboration among government and non-government agencies at the national and local levels, the private sector, families and communities, professional health organizations, academic institutions, and NGOs
The national newborn screening shall ensure that every baby born in the Philippines is offered the opportunity to undergo newborn screening and thus be spared from heritable conditions that can lead to mental retardation and death if undetected and untreated.
Article 1: General ProvisionsArticle 1: General Provisions
Section 3: Objectives:◦Ensure that every newborn has access to newborn
screening for certain heritable conditions that can result in mental retardation, serious health complications or death if left undetected and untreated.
◦Establish and integrate a sustainable newborn screening system within the public health delivery system.
◦Ensure that all health practitioners are aware of the advantages of newborn screening and of their respective responsibilities in offering newborns the opportunity to undergo newborn screening.
Article 1: General ProvisionArticle 1: General Provision
Section 3: Objectives:◦Ensure that parents recognize their
responsibility in promoting their child’s right to health and full development, within the context of responsible parenthood, by protecting their child from preventable causes of disability and death through newborn screening.
Article 2: Definition of TermsArticle 2: Definition of Terms
Comprehensive Newborn Screening System: ◦Education of relevant stakeholders◦Collection and biochemical screening of blood◦Tracking and confirmatory testing◦Clinical evaluation and biochemical/medical
confirmation of test results◦Drugs and medical/surgical management and dietary
supplementation to address the heritable conditions◦Evaluation of activities to assess long term outcome◦Patient outcome and quality assurance.
Article 2: Definition of TermsArticle 2: Definition of Terms
Follow-up:◦Monitoring of a newborn
Health Institutions:◦Hospital, health infirmaries, health centers, lying-in
centers, puericulture centers (public or private)Health care practitioners:
◦Physicians, nurses, midwives, nursing aides, and traditional birth attendants.
Heritable condition:◦Condition that can result in mental retardation,
physical deformity or death.
Article 2: Definition of TermsArticle 2: Definition of Terms
NIH: National Institute of HealthNewborn:
◦Means a child from the time of complete delivery to 30 days old.
Newborn screening:◦Process of collecting a few drops of blood from
the newborn onto an appropriate collection card and performing biochemical testing for determining if the newborn has a heritable condition.
Article 2: Definition of TermsArticle 2: Definition of Terms
Newborn Screening Center:◦Facility equipped with a newborn screening laboratory
that complies with the standards.Newborn Screening Reference Center:
◦Central facility at the NIH that defines testing and follow up protocols, maintains an external laboratory proficiencies and national database.
Parent Education:◦Various means of providing parents or legal guardians
informationRecall:
◦Procedure of locating a newborn
Article 2: Definition of TermsArticle 2: Definition of Terms
Treatment:◦The provision of prompt, appropriate and
adequate medicine, medical and surgical management or dietary prescription to a newborn for purposes of treating or mitigating the adverse health consequences.
Article 3: Newborn screeningArticle 3: Newborn screening
Section 5: Obligation to inform◦Health practitioner informs the parents or legal
guardian of the newborn of the availability, nature and benefits of newborn screening.
◦Education and notification – responsibility of the DOH.
Section 6: Performance of Newborn Screening◦Shall be performed after 24 hours of life but not
later than 3 days from complete delivery of the newborn
Article 3: Newborn screeningArticle 3: Newborn screening
Section 6: Performance. . . (cont.)◦Newborn in the ICU – may be exempted from the 3-day
requirement but must be tested by 7 days of age. ◦Shall be the joint responsibility of the parent(s) and the
practitioner or other person delivering the newborn to ensure that newborn screening is performed.
Section 7: Refusal to be Tested ◦A parent or legal guardian may refuse testing on the
grounds of religious beliefs, but shall acknowledge in writing their newborn at risk for undiagnosed heritable conditions.
Article 3: Newborn ScreeningArticle 3: Newborn Screening
Section 7: (Refusal . . . Cont.)◦A copy of this refusal documentation shall be made
part of the newborn’s medical record and refusal shall be indicated in the national newborn screening database.
Section 8: Continuing Education, Re-education and Training Health Personnel◦DOH with the assistance of the NIH◦conduct continuing information, education, re-
education, and training programs for health personnel on the rationale, benefits, procedures of newborn screening.
Article 3: Newborn ScreeningArticle 3: Newborn Screening
Section 8: Continuing Education, Re-education and Training Health Personnel (cont.)◦Disseminate information materials on newborn
screening at least annually to all health personnel involved in maternal and pediatric care.
Section 9: Licensing and Accreditation◦DOH and the Phil Health Insurance Corporation
(PHIC) shall require health institutions to provide newborn screening services as a condition for licensure or accreditation.
Article 4: ImplementationArticle 4: Implementation
Section 10: Lead Agency◦DOH◦Establish the advisory committee on newborn
screening◦Develop the implementing rules and
regulations for the immediate implementation of a nationwide newborn screening program within one hundred eight (108) days from the enactment of this Act.
◦Coordinate with the department of the interior and local government (DILG) for the implementation of the NBS programs.
Article 4: ImplementationArticle 4: Implementation
Section 10: Lead Agency◦Lead Agency: DOH◦Advisory Committee on Newborn Screening◦Coordinate with the NIH NBS Reference Center
for the accreditation of Newborn screening centers and preparation of defined testing protocols and quality assurance programs.
◦Coordinate with DILG for implementation of the NBS program.
Article 4: ImplementationArticle 4: Implementation
Section 11: Advisory Committee on Newborn Screening◦Ensure sustained inter-agency collaboration◦Integral part of the office of the secretary of the
DOH◦Review annually and recommend conditions to
be included in the newborn screening panel of disorders
◦Review and recommend the newborn screening fee.
Article 4: ImplementationArticle 4: Implementation
Section 11: ◦Committee: 8 members:
Chairman: Secretary of the DOH Executive director of the NIH, who shall act as Vice Chairman Undersecretary of the DILG Executive Director of the Council for the Welfare of Children Director of the Newborn Screening Reference Centers 3 representatives appointed by the Secretary of Health
(pediatrician, obstetrician, endrocrinologist, family physician, nurse or midwife) – term: 3 years subject for reappointment for another 3 years.
NIH: secretariat of the committee
Article 4: ImplementationArticle 4: Implementation
Section 12: Establishment and Accreditation of Newborn Screening Centers◦Strategically located and accessible◦Certified laboratory performing all tests included in
the newborn screening program◦recall/follow up programs for infants found positive
for any and all of the heritable conditions.◦Be supervised and staffed by trained personnel
who have been duly qualified by the NIH◦Submit to periodic announced and unannounced
inspections by the Reference center.
Article 4: ImplementationArticle 4: Implementation
Section 13: Establishment of a Newborn Screening Reference Center◦NIH shall establish a NBS Reference Center
National testing database Case registries, training, technical assistance Continuing education for laboratory staff
Section 4: ImplementationSection 4: Implementation
Section 14: Quality Assurance◦NIH:
Responsible for drafting and ensuring good laboratory practice standards for newborn screening centers
Establish an external laboratory proficiency testing and certification program
Principal repository of technical information relating to newborn screening standards and practices
Technical assistance to newborn screening centers needing such assistance.
Article 4: ImplementationArticle 4: Implementation
Section 15: Database◦NBS Reference center shall maintain a national
database of patients tested and a registry for each condition.
◦NBS Reference center shall submit reports annually to the committee and to the DOH on the status of an relevant information derived from the database
Article 4: ImplementationArticle 4: Implementation
Section 16: Newborn Screening Fees◦Testing costs◦Education◦Sample transport◦Follow-up cost◦Reasonable overhead expenses
Article 5: Final ProvisionsArticle 5: Final Provisions
Section 17: Repealing ClauseSection 18: Separability ClauseSection 19: Effectivity