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CYTOGEN > NEWBORN SCREENING > Flashcards

NEWBORN SCREENING Flashcards

1
Q

“Newborn Screening Act of 2004”

A

RA 9288

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2
Q

Screening of infants after birth for certain treatable congenital metabolic conditions

A

Newborn Screening Act

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3
Q

Babies look normal at birth but develop
manifestations within the next

A

Two weeks

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4
Q

Test is done _______ hours.

A

48-72 hours

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5
Q

Benefits of NBS

A

Early Diagnosis
Intervention
Reduced Financial Burden

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6
Q

NBS or RA 9288 was enacted by

A

Congress in April 2004

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7
Q

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

A

DOH, PhilHealth, and PHIC

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8
Q

First disorder that was screened in the USA

A

Phenylketonuria

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9
Q

How many conditions in USA?

A

54 conditions

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10
Q

Conditions in Germany

A

12 conditions

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11
Q

Conditions in UK

A

2 conditions

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12
Q

Conditions in France and Hongkong

A

1 conditions

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13
Q

Diseases initially screened in PH

A

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

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14
Q

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

A

CONGENITAL HYPOTHYROIDISM

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15
Q

Severely stunted physical and mental growth due to congenital hypothyroidism

A

Cretinism

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16
Q

Treatment of Congenital Hypothyroidism

A

Hormone replacement, must be initiated within 2 weeks

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17
Q

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

A

Congenital Adrenal Hyperplasia

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18
Q

90% of cases which leads to cortisol and
mineralocorticoid deficiency

A

21-hydroxylase deficiency

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19
Q

Primary marker used in screening CAH

A

17 – hydroxyprogesterone

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20
Q

Autosomal Recessive, disorder of galactose
metabolism

A

GALACTOSEMIA

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21
Q

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

A

Galactokinase

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22
Q

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

A

UDP-galactose and glucose-1-phosphate

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23
Q

Then, last step will be

A

This UDP-galactose will be converted to
UDP-Glucose

24
Q

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

A

2

25
Q

Galacticol accumulation

A

Can cause formation of cataract within few weeks after birth

26
Q

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

A

PHENYLKETONURIA (PKU)

27
Q

Majority of cases – the one that is deficient is

A

Phenylalanine hydroxylase (PAH)

28
Q

In minority of cases, the enzyme that is deficient is

A

Dihydropteridine reductase (DHPR).

29
Q

Treatment for PHENYLKETONURIA (PKU) is

A

Restriction of phenylalanine
intake; gene therapy.

30
Q

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.

A

Maternal PKU

31
Q

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

A

GLUCOSE-6-PHOSPHATE DEHYDROGENASE
DEFICIENCY (G6PD DEFICIENCY)

32
Q

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

A

Glucose-6-phosphate dehydrogenase Deficiency

33
Q

Patient with Glucose-6-phosphate dehydrogenase Deficiency can have

A

Episodic hemolytic anemia from
exposure to oxidative substances

34
Q

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

A

Mothballs

35
Q

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

A

NADPH

36
Q

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

A

X-linked recessive condition

37
Q

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

A

MAPLE SYRUP URINE DISEASE (MSUD)

38
Q

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

A

maple syrup or sweet, burnt sugar

39
Q

Complications may have been prevented if a carefully prescribed _____ .

A

Diet

40
Q

The Incidence in MSUD is

A

1 in 250,000 livebirths.

41
Q

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

A

True

42
Q

Blood = Detect about

A

50 Conditions

43
Q

Urine = More than

A

100 Conditions

44
Q

NEWBORN SCREENING PROCESS NEEDS:

A

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

45
Q

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

A

24 hours

46
Q

The blood sample is placed on a

A

Special filter paper to dry.

47
Q

Fill out attached form with:

A

-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

48
Q

Results are available by ________ working days

A

7-14 days

49
Q

The time samples are received at

A

NBS center

50
Q

Negative screen means that the newborn is

A

Normal

51
Q

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

A

Confirmatory Testing

52
Q

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

A
  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
53
Q

Can detect 25-30 different biochemical genetic diseases

A

Tandem Mass Spectrometry

54
Q

For Thyroid hormones in Congenital hypothyroidism

A

Immunoassays

55
Q

For Hemoglobinopathies (In Expanded NBS)

A

Isoelectric Focusing

56
Q

For Cystic fibrosis and severe
combined immunodeficiency

A

Molecular Techniques

57
Q

Sino cute

A

shevy

CYTOGEN (11 decks)

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