MTLBE - Newborn Screening Act of 2004

RA 9288

Newborn Screening Act of 2004 is also known as ________

July 4, 2004

Newborn Screening Act of 2004 is approved on _______.

First Week of October

Gloria Arroyo issued Proclamation No. 540 that __________ of every year is the National Newborn Screening Week.

28 tests

Expanded NBS has _________ in total.

6 test

Original Newborn Screening has _________ in total.

RA 7722

An Act Promulgating a Comprehensive Policy And A National System For Ensuring Newborn Screening

Newborn Screening

It means the 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.

Expanded Newborn Screening

It is an examination that increases the coverage of the NBS panel from six to 28 types of congenital disorders that fall into various categories.

Administrative Order No.. 2014-0045

It expressly states that "effective May 1, 2019, all infants born in accredited NBS facilities shall be tested for ENBS only"

Newborn

A child from the time of complete delivery to 30 days old.

Heritable Condition

Any congenital trait that can result in mental retardation, physical deformity, or death if left undetected or untreated.

24 Hours; 3 days

As a rule, NBS shall be performed after __________ but not later than _______.

7 days

Newborn in ICU is exempted in 3-day requirement but must be tested in ________ of age.

Whole Blood

Specimen of choice for NBS

Skin Puncture (Heel stick)

Newborn Screening specimen is extracted through ___________.

Endocrine Disorders

Defects that involve errors in the production of endocrine hormones.

Endocrine Disorders

congenital hypothyroidism
congenital adrenal hyperplasia

Amino Acid Disorders

Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Homocystinuria (HCY)
Tyrosinemia Type I (TYR I)
Argininosuccinate lyase deficiency (ASA)
Citrullinemia (CIT)

Amino Acid Disorders

Defects that involve errors in amino acid metabolism

Fatty Acid Oxidation Disorders

Carnitine palmitoyltransferase I deficiency (CPT1D)
Carnitine palmitoyltransferase II deficiency (CPT2D)
Cartinine uptake deficiency (CUD)
Glutaric acidemia type II (GA2)
Medium chain-Acyl-CoA dehydrogenase deficiency (LCHADD)
Very long chain-Acyl-CoA dehydrogenase deficiency (VLCAD)
Tri-functional protein deficiency

Organic acidurias

Group of autosomal recessive disorders caused by the deficiency or absense of ay of the enzymes needed to break down specific proteins

Fatty Acid Oxidation Disorders

group of autosomal recessive disorders caused by the deficiency or absence of any of the enzymes needed for beta-oxidation

Organic acidurias

3-methyl CoA carboxylase deficiency (3MCCD)
Beta ketothiolase deficiency
Glutaric acidemia type I
Isovaleric acidemia (IVA)
Methylmalonic acidemia (MMA)
Multiple carboxylase deficiency (MCD)

Urea Cycle defects

Citrullinemia

Hemoglobinopathies

Alpha thalassemia
Beta thalassemia
Hemoglobin C
Hemoglobin D
Hemoglobin E
Sickle cell disease

Other Defects

Galactosemia
Glucose-6-phosphate deficiency (G6PD)
Cystic fibrosis
Biotinidase deficiency

Yes, on the grounds of religious beliefs.

Can a parent or legal guardian refuse to subject their newborn to ENBS?

Newborn Screening Facility

A health facility that educates parents about NBS during the prenatal period, collects blood samples for NBS, sends the specimens to the NSC, recalls patients found positive in NBS and assist in the management of patients.

Newborn Screening Center

It means a facility equipped with a newborn screening laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions.

Recall

It means a procedure for locating a newborn with a possible heritable condition for purposes of providing the newborn with appropriate laboratory to confirm the diagnosis and, as appropriate, provide treatment.

Follow-up

It means the monitoring of a newborn with a heritable condition for the purpose of ensuring that the newborn patient complies fully with the medicine of dietary prescriptions.

Newborn Confirmatory Center (NBCC)

It refers to the facility identified by DOH to be a part of National Comprehensive Newborn Screening System Treatment Network.

Newborn Screening Reference Center (NSFC)

It means the central facility at the NIH that defines testing and follow-up protocols, maintains an external laboratory proficiency testing program, oversees the national testing database and case registries, assists in training activities in all aspects of the program, oversees content of educational materials and acts as the Secretariat of the Advisory Committee on Newborn Screening.

Newborn Screening Continuity Clinic

An ambulatory clinic based in a tertiary hospital and identified by the DOH to be part of National Comprehensive Newborn Screening System Treatment Network.

Accreditation

A formal authorization issued by the DOH to an individual, partnership, corporation or association and to the NSC.

Certificate of Accreditation

A formal authorization issued to NSCs

License to Operate

A formal authorization issued to NBCC.

Three Years

COA validity is ______

One Year

LTO validity is ______

30 days

Application for COA should be filed within ______ after expiration date, unless it will be treated as new application.