RA 9288

NEWBORN SCREENING ACT OF 2004

prevent death & developmental disorders among Filipino children initiated in the Philippines on June 27, 1996

June 27, 1996

NEWBORN SCREENING ACT OF 2004 prevent death & developmental disorders among Filipino children initiated in the Philippines on?

AO No- 1-A Series of 2000

POLICIES FOR NATIONWIDE IMPLEMENTATION OF NEWBORN SCREENING

AO No- 1-A Series of 2000

issued by DOH on Jan 3, 2000

- congenital hypothyroidism | congenital adrenal hyperplasia
- galactosemia, and phenylketonuria
- glucose-6-phosphate dehydrogenase defi

NEWBORN SCREENING (NBS) PANEL OF DISORDER

Jan 20, 2004

Date - Gloria Arroyo issued Proclamation No. 540, declaring the first week of October of each year as National Newborn Screening Week.

first week of October of each year

National Newborn Screening Week

NEWBORN SCREENING ACT OF 2004

RA 9288

April 7, 2004

NEWBORN SCREENING ACT OF 2004 was enacted on?

October 7, 2004

IRR of NEWBORN SCREENING ACT OF 2004 was issued on?

NEWBORN SCREENING ACT OF 2004

Act to protect & promote right to health of people, including right of children to survival as well as full & healthy dev't as normal indiv.

NEWBORN SCREENING ACT OF 2004

National NBS system that is COMPREHENSIVE, INTEGRATIVE, and SUSTAINABLE and will facilitate collaboration among government and non-government agencies at national and local levels, private sector, families & communities, professional health organizations, academic institutions, and non-government organization.

NEWBORN SCREENING ACT OF 2004

Ensures that every baby born in Philippines is offered opportunity to undergo NBS and be spared from heritable conditions that can lead to mental retardation and death if undetected and untreated.

NEWBORN SCREENING

It became part of the standard practice of neonatal care.

Department Memorandum No.2012-0154

Issued by DOH on May 15, 2012, directing inclusion of maple syrup urine disease (MUD) in the NBS Panel of Disorders, completing six parameters (6-Test or Option 1) of NBS

AO No. 2014-0045

Guidelines on the Implementation of the EXPANDED Newborn Screening Program

November 19, 2014.

AO No. 2014-0045 was issued on?

AO No. 2014-0045

- was issued on November 19, 2014
- released by DOH on March 29, 2019

Expanded NBS (ENBS Test or Option 2)

detects 28 newborn disorders falling under various types:
- hemoglobinopathies, amino acid disorders, organic aciduria
- disorders of fatty acid oxidation, endocrine disorders
- disorders of carbohydrate metabolism,
- disorders of biotin metabolism, cystic fibrosis

AO No. 2018- 0025

National Policy and Strategic Framework on Expanded Newborn Screening

AO No. 2018- 0025

DOH promulgated on November 5, 2018

AO No. 2014-0045

- Option 1 (6-Test) will be offered until April 30, 2019, only. - May 1, 2019: all infants born in accredited facilities shall be tested for Option 2 (ENBS test) only.

TAKE NOTE!

NEWBORN SCREENING (NBS)

Collecting a few drops of blood from the newborn onto an appropriate collection card and performing biochemical testing

NEWBORN SCREENING (NBS)

an appropriate collection card and performing biochemical testing to determine if the newborn has a heritable condition

NEWBORN SCREENING (NBS)

simple procedure to find out if newborn has a congenital disorder that may lead to mental retardation or even death

NEWBORN SCREENING (NBS)

essential public health strategy that enables early detection and management of several congenital disorders

newborn

a child from the time of complete delivery to 30 days old

- shall be performed after 24 hours of life but not later than three days from the complete delivery of the newborn.

- newborn placed in intensive care may be exempted from the three-day requirement but must be tested by seven days of age

RULE REGARDING THE PERFORMANCE OF NBS

- whole blood extracted through skin puncture, capillary puncture or heel stick

specimen of choice for NBS

ENBS filter paper card

In performing NBS, drops of blood are collected using?

ENDOCRINE DISORDERS

defects that involve errors in the production of endocrine hormones

Congenital HYPOthyroidism

ENDOCRINE DISORDERS - Disorder resulting from thyroid dysgenesis (TD) that presents as an absent, ectopic, or hypoplastic thyroid, which affects thyroid hormone production and commonly results in mental retardation.

Congenital adrenal hyperplasia

ENDOCRINE DISORDERS - group of disorders resulting from enzymatic defects in biosynthesis of steroids such as 21-hydroxylase deficiency.

Congenital adrenal hyperplasia

Others are due to cholesterol desmolase 11ß-hydroxylase deficiency, 17 ß- hydroxylase dehydrogenase deficiency, & 3 ß hydroxysteroid

AMINO ACID DISORDER

defects that involve errors in amino acid metabolism

Homocystinuria (Hcy)

AMINO ACID DISORDER - caused by cystathionine -synthase deficiency, an inborn error of the transsulfation pathway which causes INCREASE in levels of homocysteine & methionine in blood.

Methionine adenosine transferase (MAT) deficiency

AMINO ACID DISORDER - abnormal ELEVATION of plasma methionine that persists beyond infancy

Maple syrup urine disease (MSUD)

AMINO ACID DISORDER - due to a defect or deficiency of the branched-chain ketoacid dehydrogenase complex, in which elevated quantities of LEUCINE, ISOLEUCINE, VALINE, and their corresponding oxoacids accumulate in body fluids.

Phenylketonuria (PKU)

AMINO ACID DISORDER - disorder of aromatic amino acid metabolism in which phenylalanine cannot be converted to tyrosine due to deficiency or absence of phenylalanine hydroxylase.

hepatorenal tyrosinemia, tyrosinemia type 1, tyrosinosis, or hereditary tyrosinemia

AMINO ACID DISORDER - Tyrosinemia type I is aka

oculocutaneous tyrosinemia or RichnerHanhart syndrome

AMINO ACID DISORDER - Tyrosinemia type II is aka

Tyrosinemia type I

AMINO ACID DISORDER - deficient enzyme is fumarylacetoacetase

Tyrosinemia type II

AMINO ACID DISORDER - deficient enzyme is tyrosine aminotransferase

FATTY ACID OXIDATION DISORDERS (FAOD)

group of AUTOSOMAL RECESSIVE disorders caused by the deficiency or absence of any of the enzymes needed for beta-oxidation.

Carnitine palmitoyltransferase I deficiency (CPTID)

FAOD - rare metabolic disorder characterized by the lack of CPTI.

Carnitine palmitoyltransferase I-

FAOD - An enzyme of OUTER mitochondrial membrane that converts long-chain fatty acyl molecules to their corresponding acylcarnitines, transported across inner mitochondrial membr. for b-oxidation in mitochondrial matrix - catalyzes rate limiting step of long-chain fatty acid import into mitochondria and is main regulatory enzyme of system.

Carnitine palmitoyltransferase II deficiency (CPT2D)

FAOD - lack of carnitine palmitoyltransferase type II (CPT2), which is responsible for the last step of the carnine-dependent transport system.

Carnitine uptake deficiency (CUD)

FAOD

- carnitine transporter deficiency.
- abnormality in the transport mechanism that facilitates carnitine's entry into certain cells.

Carnitine uptake deficiency (CUD)

FAOD - found that neonates who test positive for this condition do not actually have the condition but reflect the decreased levels of their mothers.

Glutaric acidemia type II (GA2)

FAOD - disorder of fatty acid, amino acid, and choline oxidation caused by defects in any one of two flavoproteins, electron transport flavoprotein (ETF) or ETF: ubiquinone oxidoreductase (ETFQO) which affects around FOURTEEN (14) dehydrogenases.

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

FAOD - occurs when mutations in HADHA gene are present in newborn

Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

FAOD - component of trifunctional protein and catalyzes third step in fatty acid oxidation spiral, converting long-chain 3-hydroxyacyl- CoA esters into long-chain 3-keto-CoA species by using NAD as a cofactor

Medium chain-Acyl-CoA dehydrogenase deficiency (MCADD)

FAOD - MOST COMMON defect of fatty acid oxidation and is associated with sudden infant death syndrome (SIDS).

Very long chain-Acyl-CoA dehydrogenase deficiency (VLCAD)

FAOD - more severe condition than MCAD or SCAD deficiency and multiple tissues are affected.

Tri-functional protein deficiency

FAOD - occurs when markedly DECREASED activity of all three enzymatic components, LCHAD, long-chain 2,3 enoyl CoA hydratase and LKAT exist.

3-Methylcrotnyl CoA carboxylase deficiency (3MCCD)

ORGANIC ACIDURIAS - Disorder of leucine metabolism that was first described in 1970

3-Methylcrotnyl CoA carboxylase deficiency (3MCCD)

ORGANIC ACIDURIAS - its found that neonates who test positive for this condition in ENBS do not actually have the condition but instead reflect increased levels of metabolites of their mothers.

Beta Ketothiolase, deficiency

ORGANIC ACIDURIAS - defect of mitochondrial aceto-acetylCOA thiolase involving KETONE body metabolism and ISOLEUCINE catabolism.

Glutaric acidemia type I

ORGANIC ACIDURIAS - causes an INCREASE in glutaric, 3-hydroxyglutatic, glutaconic, and glutarylcarnitine.

Glutaric acidemia type I

ORGANIC ACIDURIAS - First described by Goodman and colleagues in 1975 caused by DEFICIENCY of glutaryl-CoA, which catalyzes oxidative decarboxylation of glutaryl-CoA, an intermediate in degradation of lysine & tryptophan.

Isovaleric acidemia (IVA)

ORGANIC ACIDURIAS - first organic acidemia to be described

Isovaleric acidemia (IVA)

ORGANIC ACIDURIAS - Caused by a DEFICIENCY of ISOVARYL-CoA dehydrogenase, an enzyme located proximally in the catabolic pathway of the essential branched-chain amino acid leucine.

Methylmalonic acidemia (MMA)

ORGANIC ACIDURIAS - due to a defect in metholmalonyl CoA mutase or a defect in the enzyme's vitamin B12, derived co-factor 5'-deoxyadenosylcobalamin.

Multiple carboxylase deficiency (MCD)

caused by holocarboxylase synthetase enzyme, which is responsible for covalent binding of biotin with inactive apocarboxylases or by biotinidase deficiency

UREA CYCLE DEFECTS

main pathway that body uses to eliminate excess nitrogen facilitates conversion of ammonia into urea, excreted into the urine

Citrullinemia

UREA CYCLE DEFECTS - Inborn error of metabolism resulting from deficiency of arginosuccinate synthetase.

arginosuccinate synthetase

enzyme present in all tissues but the level of which is highest in the LIVER where it helps facilitate the urea cycle.

HEMOGLOBINOPATHIES

abnormalities and are usually due to a single amino acid substitution

Thalassemia

HEMOGLOBINOPATHIES

- characterized by decreased production in a or b globin chains
- grouped into a and B

Thalassemia

HEMOGLOBINOPATHIES - imbalance in production of globin chain results in hemolytic anemia or precipitation of the red cells in the bone marrow or a process known as ineffective erythropoiesis.

a (Alpha) thalassemia
B (Beta) thalassemia

2 groups of Thalassemia

a (Alpha) thalassemia - deletion of the a globin gene
B (Beta) thalassemia - total absence of B chain production (B°) or partial reduction of the chain (B+)

a (Alpha) thalassemia -
B (Beta) thalassemia -

- loss of four genes
- loss of three genes
- Loss of two genes (trait) or one (silent carrier)

a (Alpha) thalassemia

loss of four genes

hydrops fetalis, fatal in utero

loss of three genes

HbH disease, which may manifest later in childhood as moderately SEVERE anemia.

- Loss of two genes (trait) or one (silent carrier)

may result in MILD anemia and these two are clinically insignificant.

Hemoglobin C

HEMOGLOBINOPATHIES - newborn is a carrier of hemoglobin C, also known as hemoglobin C trait or Hb AC.

Hemoglobin D-

HEMOGLOBINOPATHIES - newborn is a carrier of hemoglobin D, also known as hemoglobin D trait or Hb AD

Hemoglobin E

HEMOGLOBINOPATHIES - BE chain is synthesized at a reduced rate, leading to an IMBALANCE in the globin chains.

Sickle cell disease

HEMOGLOBINOPATHIES - affected infants are normal at birth but develop anemia later

Sickle cell disease

HEMOGLOBINOPATHIES - occurs in globin chains have predominant HbS.

NOTE:
HbS concentration - increase
HbF - decrease

Galactosemia (Gal)

Rare genetic METABOLIC disorder that is inherited in an autosomal recessive manner.

Galactosemia (Gal)

Inborn error of carbohydrate metabolism characterized by elevated levels of galactose and its metabolites

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Genetic abnormality resulting in an inadequate or decreased production of G6PD, which renders RBCs susceptible to oxidative agents, leading to HEMOLYTIC ANEMIA .

Cystic fibrosis (CF)

Progressive genetic disease that causes persistent LUNG infections and limits the ability to breathe

Cystic fibrosis (CF)

Inherited two copies of the defective gene; one copy from each parent. Both parents must have at least one copy of the defective gene for disease to occur in their offspring.

Biotinidase deficiency

- multiple carboxylase deficiency
- defect is an inability to cleave biocytin for biotin recycling.

Yes. A parent or legal guardian MAY refuse testing on the ground of religious belief

One of the objectives of R.A. No. 9288 is to ensure that NBS is accessible to all newborns. However, though accessible, a parent or legal guardian may refuse to subject their newborn to NBS on the ground of religious beliefs. Such refusal shall be made in writing and must be included in the newborn's medical record. The refusal will also be indicated in the national NBS database.

CAN A PARENT OR LEGAL GUARDIAN REFUSE TO SUBJECT THEIR NEWBORN TO ENBS?

NEWBORN SCREENING FACILITY (NSF)

Health facility that educates parents about NBS during prenatal period, COLLECT blood samples for NBS, sends the specimens to the NSC, recalls patients found positive in NBS, and assists in the management of patients.

NEWBORN SCREENING CENTER (NSC)

- facility equipped with an NBS laboratory that complies with the standards
- established by National Institutes of Health provides all required laboratory tests and recall/follow-up programs for newborns with heritable condition.

NEWBORN CONFIRMATORY CENTER (NBCC)

facility identified by DOH to be part of National Comprehensive Newborn Screening System Treatment Network

NEWBORN CONFIRMATORY CENTER (NBCC)

Equipped to perform confirmatory testing to ensure accuracy of screening results.

NEWBORN SCREENING REFERENCE CENTER

- central facility at National Institutes of Health
- defines testing and follow-up protocols
o maintains EXTERNAL laboratory proficiency testing program
o oversees the national testing database and case registries
o assists in training activities on various aspects of program
o oversees content of educational materials
o acts as Secretariat of Advisory Committee

- Prick the lateral portions of the plantar surface of the heel.
- Apply intermittent pressure on the area surrounding the heel, but do not squeeze.
- Wipe first blood droplet because of the potential contamination with tissue dices.
- Wait for sufficient blood to form. Drop the blood on the filter card, filling each circle so that it is uniformly absorbed when viewed from the backside of the card.
- Do not superimpose the blood on top of another spot.
- Dry filter card for at least FOUR (4) hrs or until completely dried by placing it in drying rack.
- After drying, you may how send it to the NSC through your preferred courier

PREFERRED MODE OF COLLECTION OF SAMBLE FOR NBS