Newborn screening

Question 1

An essential public health strategy that enables the early detection and management of several metabolic disorders.

Answer 1

Newborn Screening Program

Question 2

by what year should all Filipino newborns are screened for the more common and life- threatening congenital metabolic disorders?

Answer 2

by year 2025

Question 3

Ensure that every baby born in the Philippines is offered the opportunity to undergo NBS

Answer 3

RA 9288 - Newborn Screening Act of 2004

Question 4

– Guidelines on the Implementation of the Expanded Newborn Screening Program (2014)

Answer 4

DOH AO No. 2014-0045

Question 5

Used to detect six (6) metabolic disorders + 22 eNBS = 28 NB Disorders

Answer 5

Regular NBS

Question 6

The expanded newborn screening program will increase the screening panel of disorders from six (6) to twenty-eight (28). This will provide opportunities to significantly improve the quality of life of affected newborns through facilitating early diagnosis and early treatment.

Answer 6

eNBS (expanded Newborn Screening)

Question 7

• results from lack of thyroid hormone which are essential to growth of the brain and body
• physical growth is stunted and may then suffer mental retardation

Answer 7

Congenital Hypothyroidism

Question 8

• causes severe salt loss, dehydration and abnormally high levels of male sex hormones in both boys and girls
• if not detected and treated early, newborn with this disorder may die within 9 to 13 days

Answer 8

Congenital Adrenal Hyperplasia

Question 9

▪ unable to process a certain part of milk sugar called galactose
▪ build up of too much galactose in the body can cause liver and brain damage
▪ Affected NB is treated by putting them on a special diet.

Answer 9

Galactosemia – accumulation of galactose in the blood.

Question 10

▪ rare condition in which the NB cannot properly use one of the building blocks of protein, called phenylalanine
▪ accumulates in the blood and causes brain damage; normal development can be prevented
▪ treatment is started early with a special diet

Answer 10

Phenylketonuria

Question 11

▪ rare condition in which the NB cannot properly use one of the building blocks of protein, called phenylalanine
▪ accumulates in the blood and causes brain damage; normal development can be prevented
▪ treatment is started early with a special diet

Answer 11

Phenylketonuria

Question 12

▪ leads to hemolytic anemia, yellow discoloration of the skin and other health problems
▪ may develop complications leading to mental retardation and even death

Answer 12

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Question 13

▪ an inherited
metabolic disorder in which the body is unable to process certain amino acids
▪ this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.

Answer 13

Maple Syrup Urine Disease (MSUD)

Question 14

hereditary disorder affecting the exocrine glands; production of abnormally thick mucus

Answer 14

Cystic Fibrosis

Question 15

unable to recycle the Vit. Biotin

Answer 15

Biotinidase disease

Question 16

a genetic defect that results in
abnormal structure of one of the globin chains of the hemoglobin molecule. Common hemoglobinopathies include sickle-cell disease.

Answer 16

Hemoglobinopathies

Question 17

is associated with a specific enzyme deficiency that causes the accumulation of organic
acids in blood and urine.

Answer 17

Organic acid disorder

Question 18

a genetic disorder that result from an inability of the body to produce or utilize one enzyme (Acyl-CoA) that is required to oxidize fatty acids.

Answer 18

Fatty acid oxidation disorder

Question 19

inherited in an autosomal recessive manner and affect both males and females. ASAL deficiency is one of a small number of conditions called “urea cycle disorders” (UCD). When the ASAL enzyme is not working, ammonia and other harmful substances build up in the blood and cause brain damage.

Answer 19

Amino acid disorders

Question 20

How much is the fee for newborn screening?

Answer 20

P550.00

Expanded NBS –P1500.00

Question 21

When are newborn screening results available?

Answer 21

Normal NBS Results are available by 7 - 14 working days from the time samples are received at the NSC