NEWBORN SCREENING Flashcards
“Newborn Screening Act of 2004”
RA 9288
Screening of infants after birth for certain treatable congenital metabolic conditions
Newborn Screening Act
Babies look normal at birth but develop
manifestations within the next
Two weeks
Test is done _______ hours.
48-72 hours
Benefits of NBS
Early Diagnosis
Intervention
Reduced Financial Burden
NBS or RA 9288 was enacted by
Congress in April 2004
Require all institutions to
provide newborn screening as a condition for licensure and accreditation.
DOH, PhilHealth, and PHIC
First disorder that was screened in the USA
Phenylketonuria
How many conditions in USA?
54 conditions
Conditions in Germany
12 conditions
Conditions in UK
2 conditions
Conditions in France and Hongkong
1 conditions
Diseases initially screened in PH
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Galactosemia
Phenylketonuria
Glucose-6-phosphate dehydrogenase Deficiency
Maple Syrup Urine Disease
Results from lack or absence of thyroid hormone most commonly due to dysgenesis of thyroid gland, rarely due to dyshormonogenetic goiter
CONGENITAL HYPOTHYROIDISM
Severely stunted physical and mental growth due to congenital hypothyroidism
Cretinism
Treatment of Congenital Hypothyroidism
Hormone replacement, must be initiated within 2 weeks
Autosomal Recessive metabolic disorder with deficiency of particular enzyme in the biosynthesis of cortical steroid
Congenital Adrenal Hyperplasia
90% of cases which leads to cortisol and
mineralocorticoid deficiency
21-hydroxylase deficiency
Primary marker used in screening CAH
17 – hydroxyprogesterone
Autosomal Recessive, disorder of galactose
metabolism
GALACTOSEMIA
Galactose upon the action of
____________, will be converted to
galactose-1-phosphate + ADP
Galactokinase
This galactose-1-phosphate will be
converted by Galactose-1-phosphate
uridyl transferase to _________
UDP-galactose and glucose-1-phosphate
Then, last step will be
This UDP-galactose will be converted to
UDP-Glucose
In these 3 reactions, the reaction _____ is the more reaction that is implicated in the development of galactosemia in majority of cases
2
Galacticol accumulation
Can cause formation of cataract within few weeks after birth
Autosomal Recessive Disorder (AR), severe
deficiency of PAH (98%, Classic PKU)
PHENYLKETONURIA (PKU)
Majority of cases – the one that is deficient is
Phenylalanine hydroxylase (PAH)
In minority of cases, the enzyme that is deficient is
Dihydropteridine reductase (DHPR).
Treatment for PHENYLKETONURIA (PKU) is
Restriction of phenylalanine
intake; gene therapy.
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.
Maternal PKU
Lack of glucose-6-PO4 dehydrogenase (G6PD) enzyme
GLUCOSE-6-PHOSPHATE DEHYDROGENASE
DEFICIENCY (G6PD DEFICIENCY)
Most common condition among Newborn
Screening (NBS) panel of disorders.
Glucose-6-phosphate dehydrogenase Deficiency
Patient with Glucose-6-phosphate dehydrogenase Deficiency can have
Episodic hemolytic anemia from
exposure to oxidative substances
While waiting for the test result, parents should not expose their child to _______ .
Mothballs
Provides reducing equivalence needed for the conversion of Oxidized glutathione (GSSG) to Reduced glutathione (GSH).
NADPH
Caused by exposure of the mature red blood cells to oxidative substances
X-linked recessive condition
Autosomal Recessive Disorder (AR), deficiency of -ketoacid dehydrogenase complex
MAPLE SYRUP URINE DISEASE (MSUD)
Accumulation of these branched chain amino acids is toxic to brain and can cause urine to smell like
maple syrup or sweet, burnt sugar
Complications may have been prevented if a carefully prescribed _____ .
Diet
The Incidence in MSUD is
1 in 250,000 livebirths.
True or False:
Newborn screening can be Done using Blood or Urine.
True
Blood = Detect about
50 Conditions
Urine = More than
100 Conditions
NEWBORN SCREENING PROCESS NEEDS:
-Pre-marriage Counseling
-Prenatal Check-Up
-Mothers’ Classes
-Multimedia Education Campaign
The process involves taking a few drops of blood from baby’s heel are collected _______ hours after birth.
24 hours
The blood sample is placed on a
Special filter paper to dry.
Fill out attached form with:
-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
Results are available by ________ working days
7-14 days
The time samples are received at
NBS center
Negative screen means that the newborn is
Normal
If positive results, newborn is asked to be
brought back to physician for further testing such as
Confirmatory Testing
The Four Criteria from The Publication Upon When Making Decisions for Early
Newborn Screening Programs
- Acceptable treatment
protocol - An understanding of the condition’s natural
history - An understanding about who will be treated
- An NBS test that is reliable for both affected
and unaffected patients
Can detect 25-30 different biochemical genetic diseases
Tandem Mass Spectrometry
For Thyroid hormones in Congenital hypothyroidism
Immunoassays
For Hemoglobinopathies (In Expanded NBS)
Isoelectric Focusing
For Cystic fibrosis and severe
combined immunodeficiency
Molecular Techniques
Sino cute
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