NEWBORN SCREENING

Question 1

“Newborn Screening Act of 2004”

Answer 1

RA 9288

Question 2

Screening of infants after birth for certain treatable congenital metabolic conditions

Answer 2

Newborn Screening Act

Question 3

Babies look normal at birth but develop
manifestations within the next

Answer 3

Two weeks

Question 4

Test is done _______ hours.

Answer 4

48-72 hours

Question 5

Benefits of NBS

Answer 5

Early Diagnosis
Intervention
Reduced Financial Burden

Question 6

NBS or RA 9288 was enacted by

Answer 6

Congress in April 2004

Question 7

Require all institutions to
provide newborn screening as a condition for licensure and accreditation.

Answer 7

DOH, PhilHealth, and PHIC

Question 8

First disorder that was screened in the USA

Answer 8

Phenylketonuria

Question 9

How many conditions in USA?

Answer 9

54 conditions

Question 10

Conditions in Germany

Answer 10

12 conditions

Question 11

Conditions in UK

Answer 11

2 conditions

Question 12

Conditions in France and Hongkong

Answer 12

1 conditions

Question 13

Diseases initially screened in PH

Answer 13

Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Galactosemia
Phenylketonuria
Glucose-6-phosphate dehydrogenase Deficiency
Maple Syrup Urine Disease

Question 14

Results from lack or absence of thyroid hormone most commonly due to dysgenesis of thyroid gland, rarely due to dyshormonogenetic goiter

Answer 14

CONGENITAL HYPOTHYROIDISM

Question 15

Severely stunted physical and mental growth due to congenital hypothyroidism

Answer 15

Cretinism

Question 16

Treatment of Congenital Hypothyroidism

Answer 16

Hormone replacement, must be initiated within 2 weeks

Question 17

Autosomal Recessive metabolic disorder with deficiency of particular enzyme in the biosynthesis of cortical steroid

Answer 17

Congenital Adrenal Hyperplasia

Question 18

90% of cases which leads to cortisol and
mineralocorticoid deficiency

Answer 18

21-hydroxylase deficiency

Question 19

Primary marker used in screening CAH

Answer 19

17 – hydroxyprogesterone

Question 20

Autosomal Recessive, disorder of galactose
metabolism

Answer 20

GALACTOSEMIA

Question 21

Galactose upon the action of
____________, will be converted to
galactose-1-phosphate + ADP

Answer 21

Galactokinase

Question 22

This galactose-1-phosphate will be
converted by Galactose-1-phosphate
uridyl transferase to _________

Answer 22

UDP-galactose and glucose-1-phosphate

Question 23

Then, last step will be

Answer 23

This UDP-galactose will be converted to
UDP-Glucose

Question 24

In these 3 reactions, the reaction _____ is the more reaction that is implicated in the development of galactosemia in majority of cases

Answer 24

2

Question 25

Galacticol accumulation

Answer 25

Can cause formation of cataract within few weeks after birth

Question 26

Autosomal Recessive Disorder (AR), severe deficiency of PAH (98%, Classic PKU)

Answer 26

PHENYLKETONURIA (PKU)

Question 27

Majority of cases – the one that is deficient is

Answer 27

Phenylalanine hydroxylase (PAH)

Question 28

In minority of cases, the enzyme that is deficient is

Answer 28

Dihydropteridine reductase (DHPR).

Question 29

Treatment for PHENYLKETONURIA (PKU) is

Answer 29

Restriction of phenylalanine intake; gene therapy.

Question 30

Some women reaching adulthood restore phenylalanine in their diet, because they are asymptomatic, which may lead to their children manifesting the disease due of hyperalaninemia.

Answer 30

Maternal PKU

Question 31

Lack of glucose-6-PO4 dehydrogenase (G6PD) enzyme

Answer 31

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY (G6PD DEFICIENCY)

Question 32

Most common condition among Newborn Screening (NBS) panel of disorders.

Answer 32

Glucose-6-phosphate dehydrogenase Deficiency

Question 33

Patient with Glucose-6-phosphate dehydrogenase Deficiency can have

Answer 33

Episodic hemolytic anemia from exposure to oxidative substances

Question 34

While waiting for the test result, parents should not expose their child to _______ .

Answer 34

Mothballs

Question 35

Provides reducing equivalence needed for the conversion of Oxidized glutathione (GSSG) to Reduced glutathione (GSH).

Answer 35

NADPH

Question 36

Caused by exposure of the mature red blood cells to oxidative substances

Answer 36

X-linked recessive condition

Question 37

Autosomal Recessive Disorder (AR), deficiency of -ketoacid dehydrogenase complex

Answer 37

MAPLE SYRUP URINE DISEASE (MSUD)

Question 38

Accumulation of these branched chain amino acids is toxic to brain and can cause urine to smell like

Answer 38

maple syrup or sweet, burnt sugar

Question 39

Complications may have been prevented if a carefully prescribed _____ .

Answer 39

Diet

Question 40

The Incidence in MSUD is

Answer 40

1 in 250,000 livebirths.

Question 41

True or False: Newborn screening can be Done using Blood or Urine.

Answer 41

True

Question 42

Blood = Detect about

Answer 42

50 Conditions

Question 43

Urine = More than

Answer 43

100 Conditions

Question 44

NEWBORN SCREENING PROCESS NEEDS:

Answer 44

-Pre-marriage Counseling -Prenatal Check-Up -Mothers’ Classes -Multimedia Education Campaign

Question 45

The process involves taking a few drops of blood from baby’s heel are collected _______ hours after birth.

Answer 45

24 hours

Question 46

The blood sample is placed on a

Answer 46

Special filter paper to dry.

Question 47

Fill out attached form with:

Answer 47

-Date and time of birth of baby -Date and time sample was collected -Infant’s weight and gestational age -Blood transfusion, if any. -Additional nutrition the baby may have received -Contact information of physician

Question 48

Results are available by ________ working days

Answer 48

7-14 days

Question 49

The time samples are received at

Answer 49

NBS center

Question 50

Negative screen means that the newborn is

Answer 50

Normal

Question 51

If positive results, newborn is asked to be brought back to physician for further testing such as

Answer 51

Confirmatory Testing

Question 52

The Four Criteria from The Publication Upon When Making Decisions for Early Newborn Screening Programs

Answer 52

1. Acceptable treatment protocol 2. An understanding of the condition's natural history 3. An understanding about who will be treated 4. An NBS test that is reliable for both affected and unaffected patients

Question 53

Can detect 25-30 different biochemical genetic diseases

Answer 53

Tandem Mass Spectrometry

Question 54

For Thyroid hormones in Congenital hypothyroidism

Answer 54

Immunoassays

Question 55

For Hemoglobinopathies (In Expanded NBS)

Answer 55

Isoelectric Focusing

Question 56

For Cystic fibrosis and severe combined immunodeficiency

Answer 56

Molecular Techniques

Question 57

Sino cute

Answer 57

shevy