Newborn Screening Act of 2004

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.


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.


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.


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


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.


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.


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.


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


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.


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.


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


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

Documents

Newborn Screening Act of 2004