NEWBORN SCREENING TEST

Question 1

Newborn Screening Test is also called

Answer 1

Blood spot screening
“Heel stick” or “24-hour test”

Question 2

No national newborn screening program prior to

Answer 2

2004

Question 3

Newborn Screening Study Group – Pilot study in

Answer 3

1996

Question 4

With this Newborn Screening Test

Answer 4

doctors can detect congenital conditions such as hormonal and metabolic disorders.

Question 5

nsufficient thyroid hormones that could lead to slow growth and intellectual disability.

Answer 5

Congenital hypothyroidism

Question 6

n inherited disorder where children cannot breakdown the amino acid phenylalanine, which can lead to brain damage.

Answer 6

Phenylketonuria

Question 7

a group of genetic disorders affecting the adrenal glands – structures that produce vital hormones. Babies with CAH lack one enzyme to make these vital hormones and are at risk of adrenal crisis, a life-threatening condition.

Answer 7

Congenital adrenal hyperplasia (CAH)

Question 8

an inherited condition where babies lack
the G6PD enzyme. This can result in hemolytic anemia, which can be fatal when not properly treated

Answer 8

Glucose-6 phosphate dehydrogenase (G6PD) deficiency

Question 9

the inability to metabolize galactose, a type of sugar commonly found in breastmilk.
This condition can be life-threatening if not treated early.

Answer 9

Galactosemia –

Question 10

Like phenylketonuria, babies with MSUD cannot metabolize specific
proteins. Infants with this condition have maple-smelling urine. Left untreated, MSUD can be fatal.

Answer 10

Maple syrup urine disease

Question 11

The ENBS tests for at least __ additional disorders like amino acid disorders and hemoglobinopathies, which affect the shape and number of red blood cells.

Answer 11

22

Question 12

Starting ____, the expanded newborn screening was offered by newborn screening facilities nationwide.

Answer 12

2015

Question 13

Data of Filipino newborns screened in the California newborn screening program from ___ have prompted the formal recommendation of Expanded Newborn Screening (ENBS) Program in the Philippines to the ACNBS.

Answer 13

2005 to 2011

Question 14

Congenital Hypothyroidism
Congenital Adrenal Hyperplasia

Answer 14

Endocrine Disorders

Question 15

Homocystinuria Hypermethioninemia/Methionine Adenosine Transferase Deficiency
Maple Syrup Urine Disease
Phenylketonuria
Tyrosinemia Type I
Tyrosinemia Type II, III

Answer 15

Amino Acid Disorders

Question 16

Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase II Deficiency Glutaric Acidemia Type II
Carnitine Uptake Deficiency

Answer 16

3. Fatty Acid Disorders

Question 17

3-Methylcrotnyl CoA Carboxylase Deficiency
Beta Ketothiolase Deficiency
Glutaric Acidemia Type I
Isovaleric Acidemia
Methylmalonic Acidemia
Multiple Carboxylase Deficiency
Propionic Acidemia

Answer 17

Organic Acid Disorders

Question 18

Citrullinemia
Argininosuccinic Aciduria

Answer 18

Urea Cycle Defect

Question 19

Hemoglobin C
Hemoglobin D
Hemoglobin E
Alpha Thalassemia
Beta Thalassemia
Sickle Cell Disease

Answer 19

Hemoglobinopathies

Question 20

Galactosemia
Glucose-6-Phosphate Dehydrogenase Deficiency
Cystic Fibrosis
Biotinidase Deficiency

Answer 20

Others

Question 21

Newborn babies are eligible if they meet all these criteria:

Answer 21

One of the parents is an eligible
PhilHealth Member.
Born in PhilHealth-accredited facilities.
Service is availed of right after delivery

Question 22

hen should the newborn screening be done in the Philippines?

Answer 22

he blood has to be collected immediately – usually 24 to 48 hours after birth, before the mother and child leave the lying-in clinic or hospital.

Question 23

Some pediatricians/pediatric endocrinologist prefer __ hours because of the stabilization of hormones at that point.

Answer 23

48

Question 24

The Newborn Screening Test can be done both in the hospital room and in the

Answer 24

nursery

Question 25

Procedure:

Answer 25

Gently warm the baby’s foot to
increase blood flow
Make a quick pinprick on the baby’s heel
Blot the blood on a special card.
Once the blood spots have dried, the card is sent off to the to the National Screening Center

Question 26

If the results are normal, the result will be released within

Answer 26

7 to 14 days after the test

Question 27

If the results are positive, the parents may hear _____from the health facility.

Answer 27

immediately

Question 28

Scenarios that may need a repeat test:

Answer 28

Premature babies
Insufficient blood samples
Unclear results

Question 29

or the “Newborn
Screening Act of 2004” ensures 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.

Answer 29

▶ Republic Act No. 9288

Question 30

When is the National Newborn Screening Week

Answer 30

First Week of October