MT Laws Week 12

June 27, 1996

The Philippine Newborn Screening Project was initiated in the Philippines on ___.

January 3, 2000

On ___, the DOH issued Administrative Order No. 1-A, series of 2000 stating the "Policies for the Nationwide implementation of Newborn Screening." During this period, the newborn screening (NBS) panel of disorders included congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and phenylketonuria only.

Administrative Order No. 1-A, series of 2000

On January 3, 2000, the DOH issued ___ stating the "Policies for the Nationwide implementation of Newborn Screening." During this period, the newborn screening (NBS) panel of disorders included congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and phenylketonuria only.

congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and phenylketonuria

On January 3, 2000, the DOH issued Administrative Order No. 1-A, series of 2000 stating the "Policies for the Nationwide implementation of Newborn Screening." During this period, the newborn screening (NBS) panel of disorders included ___, ___, ___, and ___ only.

December 9, 2003

On ___, the DOH issued Administrative Order No. series of 2003, with a subject "Strengthening Implementation of the National Newborn Screening System." This time, NBS covered congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and phenylketonuria with the addition of glucose-6-phosphate dehydrogenase deficiency.

Administrative Order No. series of 2003

On December 9, 2003, the DOH issued ___, with a subject "Strengthening Implementation of the National Newborn Screening System." This time, NBS covered congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and phenylketonuria with the addition of glucose-6-phosphate dehydrogenase deficiency.

glucose-6-phosphate dehydrogenase deficiency

On December 9, 2003, the DOH issued Administrative Order No. series of 2003, with a subject "Strengthening Implementation of the National Newborn Screening System." This time, NBS covered congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, and phenylketonuria with the addition of ___.

May 15, 2012

On ___, the DOH issued Department Memorandum No. 2012-0154 directing the inclusion of maple syrup urine disease in the NBS Panel of Disorders, completing the six parameters (6-Test or Option 1) of NBS.

Department Memorandum No. 2012-0154

On May 15, 2012, the DOH issued ___ directing the inclusion of maple syrup urine disease in the NBS Panel of Disorders, completing the six parameters (6-Test or Option 1) of NBS.

maple syrup urine disease

On May 15, 2012, the DOH issued Department Memorandum No. 2012-0154 directing the inclusion of ___ in the NBS Panel of Disorders, completing the six parameters (6-Test or Option 1) of NBS.

Administrative Order No. 2014-0045

The DOH issued ___ or the "Guidelines on the Implementation of the Expanded Newborn Screening Program" on November 19, 2014. The Expanded NBS (ENBS Test or Option 2) detects a total of 28 newborn disorders

November 19, 2014

The DOH issued Administrative Order No. 2014-0045 or the "Guidelines on the Implementation of the Expanded Newborn Screening Program" on ___. The Expanded NBS (ENBS Test or Option 2) detects a total of 28 newborn disorders

Expanded NBS

The DOH issued Administrative Order No. 2014-0045 or the "Guidelines on the Implementation of the Expanded Newborn Screening Program" on November 19, 2014. The ___ detects a total of 28 newborn disorders

28

The DOH issued Administrative Order No. 2014-0045 or the "Guidelines on the Implementation of the Expanded Newborn Screening Program" on November 19, 2014. The Expanded NBS (ENBS Test or Option 2) detects a total of _ newborn disorders

Option 1

The Newborn Screening Act is known as ___

Option 2

The Exanded Newborn Screening Act is known as ___

Newborn Screening Act ; biochemical testing

___ is the process of collecting a few drops of blood from the newborn onto an appropriate collection card and performing ___ to determine if the newborn has a heritable condition.

Section 4(8) of R.A. No. 9288

New Born Screening Act is defined by ___

metabolic and endocrine disorders, hemoglobinopathies, cystic fibrosis

NBS is further defined as an essential public health strategy that enables the early detection and management of several congenital disorders (___ and ___, ___, and ___), which, if left untreated, may lead to mental retardation, disability, or even death.300

30

The term "newborn" refers to a child from the time of complete delivery to _ days old.

24 hours ; 3 days

As a general rule, NBS shall be performed after ___ of life but not later than ___ from the complete delivery of the newborn.

intensive care ; 7 days

As an exception, a newborn that must be placed in ___ in order to ensure survival may be exempted from the three-day requirement but must be tested by ___ of age

Before

As an exception, a newborn that must receive a blood transfusion, NBS shall be performed ___ the blood transfusion

mental retardation ; physical deformity ; death

A heritable condition is any congenital trait that can result in ___, ___, or ___ if left undetected and untreated.

28+ panels

At present, the NBS program of the Department of Health offers an ENBS test consisting of ___ falling under various types of heritable conditions.

Congenital hypothyroidism

Endocrine Disorders

• ___

• Congenital adrenal hyperplasia

Congenital adrenal hyperplasia

Endocrine Disorders

• Congenital hypothyroidism

• ___

Homocystinuria

Amino Acid Disorders

• ___

• Hypermethioninemia

• Maple syrup urine disease

• Phenylketonuria

• Tyrosinemia type I, II, and III

Hypermethioninemia

Amino Acid Disorders

• Homocystinuria

• ___

• Maple syrup urine disease

• Phenylketonuria

• Tyrosinemia type I, II, and III

Maple syrup urine disease

Amino Acid Disorders

• Homocystinuria

• Hypermethioninemia

• ___

• Phenylketonuria

• Tyrosinemia type I, II, and III

Phenylketonuria

Amino Acid Disorders

• Homocystinuria

• Hypermethioninemia

• Maple syrup urine disease

• ___

• Tyrosinemia type I, II, and III

Tyrosinemia type I, II, and III

Amino Acid Disorders

• Homocystinuria

• Hypermethioninemia

• Maple syrup urine disease

• Phenylketonuria

• ___

Carnitine palmioyltransferase I deficiency

Fatty Acid Disorders

• ___

• Carnitine palmioyltransferase II deficiency

• Carnitine uptake deficiency

• Glutaric acidemia type II

• Long chain hydroxyacyl-CoA dehydrogenase deficiency

• Medium chain-Acyl-CoA dehydrogenase deficiency

• Very long chain-Acyl- CoA dehydrogenase deficiency

• Tri-functional protein deficiency

Carnitine palmioyltransferase II deficiency

Fatty Acid Disorders

• Carnitine palmioyltransferase I deficiency

• ___

• Carnitine uptake deficiency

• Glutaric acidemia type II

• Long chain hydroxyacyl-CoA dehydrogenase deficiency

• Medium chain-Acyl-CoA dehydrogenase deficiency

• Very long chain-Acyl- CoA dehydrogenase deficiency

• Tri-functional protein deficiency

Carnitine uptake deficiency

Fatty Acid Disorders

• Carnitine palmioyltransferase I deficiency

• Carnitine palmioyltransferase II deficiency

• ___

• Glutaric acidemia type II

• Long chain hydroxyacyl-CoA dehydrogenase deficiency

• Medium chain-Acyl-CoA dehydrogenase deficiency

• Very long chain-Acyl- CoA dehydrogenase deficiency

• Tri-functional protein deficiency

Glutaric acidemia type II

Fatty Acid Disorders

• Carnitine palmioyltransferase I deficiency

• Carnitine palmioyltransferase II deficiency

• Carnitine uptake deficiency

• ___

• Long chain hydroxyacyl-CoA dehydrogenase deficiency

• Medium chain-Acyl-CoA dehydrogenase deficiency

• Very long chain-Acyl- CoA dehydrogenase deficiency

• Tri-functional protein deficiency

Long chain hydroxyacyl-CoA dehydrogenase deficiency

Fatty Acid Disorders

• Carnitine palmioyltransferase I deficiency

• Carnitine palmioyltransferase II deficiency

• Carnitine uptake deficiency

• Glutaric acidemia type II

• ___

• Medium chain-Acyl-CoA dehydrogenase deficiency

• Very long chain-Acyl- CoA dehydrogenase deficiency

• Tri-functional protein deficiency

Medium chain-Acyl-CoA dehydrogenase deficiency

Fatty Acid Disorders

• Carnitine palmioyltransferase I deficiency

• Carnitine palmioyltransferase II deficiency

• Carnitine uptake deficiency

• Glutaric acidemia type II

• Long chain hydroxyacyl-CoA dehydrogenase deficiency

• ___

• Very long chain-Acyl- CoA dehydrogenase deficiency

• Tri-functional protein deficiency

Very long chain-Acyl- CoA dehydrogenase deficiency

Fatty Acid Disorders

• Carnitine palmioyltransferase I deficiency

• Carnitine palmioyltransferase II deficiency

• Carnitine uptake deficiency

• Glutaric acidemia type II

• Long chain hydroxyacyl-CoA dehydrogenase deficiency

• Medium chain-Acyl-CoA dehydrogenase deficiency

• ___

• Tri-functional protein deficiency

Tri-functional protein deficiency

Fatty Acid Disorders

• Carnitine palmioyltransferase I deficiency

• Carnitine palmioyltransferase II deficiency

• Carnitine uptake deficiency

• Glutaric acidemia type II

• Long chain hydroxyacyl-CoA dehydrogenase deficiency

• Medium chain-Acyl-CoA dehydrogenase deficiency

• Very long chain-Acyl- CoA dehydrogenase deficiency

• ___

3-Methylcrotnyl CoA carboxylase deficiency

Organic Acid Disorders

• ___

• Beta ketothiolase deficiency

• Glutaric acidemia type I

• Isovaleric acidemia

• Methylmalonic acidemia

• Multiple carboxylase deficiency

• Propionic acidemia

Beta ketothiolase deficiency

Organic Acid Disorders

• 3-Methylcrotnyl CoA carboxylase deficiency

• ___

• Glutaric acidemia type I

• Isovaleric acidemia

• Methylmalonic acidemia

• Multiple carboxylase deficiency

• Propionic acidemia

Glutaric acidemia type I

Organic Acid Disorders

• 3-Methylcrotnyl CoA carboxylase deficiency

• Beta ketothiolase deficiency

• ___

• Isovaleric acidemia

• Methylmalonic acidemia

• Multiple carboxylase deficiency

• Propionic acidemia

Isovaleric acidemia

Organic Acid Disorders

• 3-Methylcrotnyl CoA carboxylase deficiency

• Beta ketothiolase deficiency

• Glutaric acidemia type I

• ___

• Methylmalonic acidemia

• Multiple carboxylase deficiency

• Propionic acidemia

Methylmalonic acidemia

Organic Acid Disorders

• 3-Methylcrotnyl CoA carboxylase deficiency

• Beta ketothiolase deficiency

• Glutaric acidemia type I

• Isovaleric acidemia

• ___

• Multiple carboxylase deficiency

• Propionic acidemia

Multiple carboxylase deficiency

Organic Acid Disorders

• 3-Methylcrotnyl CoA carboxylase deficiency

• Beta ketothiolase deficiency

• Glutaric acidemia type I

• Isovaleric acidemia

• Methylmalonic acidemia

• ___

• Propionic acidemia

Propionic acidemia

Organic Acid Disorders

• 3-Methylcrotnyl CoA carboxylase deficiency

• Beta ketothiolase deficiency

• Glutaric acidemia type I

• Isovaleric acidemia

• Methylmalonic acidemia

• Multiple carboxylase deficiency

• ___

Citrullinemia

Urea Cycle Defects

• ___

• Argininosuccinic aciduria

Argininosuccinic aciduria

Urea Cycle Defects

• Citrullinemia

• ___

Alpha thalassemia

Hemoglobinopathies

• ___

• Beta thalassemia

• Hemoglobin C

• Hemoglobin D

• Hemoglobin E

• Sickle cell disease

Beta thalassemia

Hemoglobinopathies

• Alpha thalassemia

• ___

• Hemoglobin C

• Hemoglobin D

• Hemoglobin E

• Sickle cell disease

Hemoglobin C

Hemoglobinopathies

• Alpha thalassemia

• Beta thalassemia

• ___

• Hemoglobin D

• Hemoglobin E

• Sickle cell disease

Hemoglobin D

Hemoglobinopathies

• Alpha thalassemia

• Beta thalassemia

• Hemoglobin C

• ___

• Hemoglobin E

• Sickle cell disease

Hemoglobin E

Hemoglobinopathies

• Alpha thalassemia

• Beta thalassemia

• Hemoglobin C

• Hemoglobin D

• ___

• Sickle cell disease

Sickle cell disease

Hemoglobinopathies

• Alpha thalassemia

• Beta thalassemia

• Hemoglobin C

• Hemoglobin D

• Hemoglobin E

• ___

Galactosemia

Others

• ___

• Glucdse-6-phosphate dehydrogenase deficiency

• Cystic fibrosis

• Biotinidase deficiency

Glucdse-6-phosphate dehydrogenase deficiency

Others

• Galactosemia

• ___

• Cystic fibrosis

• Biotinidase deficiency

Cystic fibrosis

Others

• Galactosemia

• Glucdse-6-phosphate dehydrogenase deficiency

• ___

• Biotinidase deficiency

Biotinidase deficiency

Others

• Galactosemia

• Glucdse-6-phosphate dehydrogenase deficiency

• Cystic fibrosis

• ___

Endocrine disorders

___ are defects that Involve errors in the production of endocrine hormones.

Amino acid disorders

___ are defects that involve errors in amino acid metabolism

Fatty acid oxidation disorders

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

Organic acidurias

___ are a group of autosomal recessive disorders caused by the deficiency or absence of any of the enzymes needed to break down specific proteins.

Urea cycle defects

___ that elicit errors in nitrogen disposal.

Hemoglobinopathies

___ are structural abnormalities and are usually due to a single amino acid substitution.

religious beliefs

A parent or legal guardian may refuse testing on the ground of ___

national NBS database

In the even that a parent refuses NBS: 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 ___.

Newborn Screening Facility

An ___ is 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 assists in the management of patients.

Newborn Screening Center

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

Recall

___ refers to a procedure for locating a newborn with a possible heritable condition to provide the newborn with appropriate laboratory tests to confirm the diagnosis and administer treatment.

Follow-up

___ requires monitoring a newborn with a heritable condition to ensure that the newborn patient fully complies with the prescribed diet and medication.

Newborn Confirmatory Center

___ refers to a facility identified by the DOH to be part of the National Comprehensive Newborn Screening System Treatment Network. It is equipped to perform confirmatory testing to ensure the accuracy of screening results.

Newborn Screening Reference Center

___ is the central facility at the National Institutes of Health 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 on various aspects of the program, oversees content of educational materials, and acts as the Secretariat of the Advisory Committee on Newborn Screening

Certificate of Accreditation

A ___ is usually issued to NSCs.

License to Operate

The authority given to NBCCs is called ___

3 Years

COA is valid for ___

1 Year

LTO is valid only for ___

heel prick method

The preferred mode of collection of samples in NBS is the ___.

3 mm tip

NBS specimen collection kit

• lancets with ___

lateral portions of the plantar surface

Prick the___ of the heel

4 hours

Dry the filter card for at least ___

14 Days

After drying, you may now send it to the NSC through your preferred courier and any delays must not exceed ___