Newborn Screening

By: Jerel Vincen H. Fernandez, RMT

Learning Objectives
At the end of the lecture,
the student will be able
to:
• point out the significance of
performing newborn
screening
• identify the specific tests
done in newborn screening
• identify the law related to
newborn screening
Newborn Screening
• Newborn screening is a public
health program designed to screen infants
shortly after birth for a list of conditions that are
treatable, but not clinically evident in the
newborn period.

• Some diseases are manifested only after serious

damage has been done.
History
• Robert Guthrie was given much credit for the
start of newborn screening with his screening
test for Phenylketonuria back in the 1960’s

• After which, screening tests for Congenital

Hypothyroidism was added in the 1970’s

• The development of the reference method for

NBS, _________________________
further expanded the horizons of NBS
Material for NBS
• Sample tested: ____________________
• Specialized filter paper attached to a paper with
the patient’s pertinent information
▫ Name, gestational age and weight of patient
▫ Date and time of birth
▫ Date and time of sample collection
▫ Blood transfusion and parenteral nutrition
Precautions in Collection of blood
samples
• There would be at four (4) circular panels in the
filter paper

• Samples would be collected from a heel prick

• It is important the these circles would be

completely filled with the blood sample

• Collection time would be at least 24 hours after

birth to 7 days after birth
Precautions in Collection of blood
samples
• TAKE NOTE:
▫ Blood samples for NBS must be tested within a
maximum time of 3 DAYS

▫ The 7 day time span is only for newborns that

require intensive care (only one exempted to the 3
day maximum allowable time)
Diseases tested by NBS
• Phenylketonuria

• Congenital hypothyroidism

• Congenital Adrenal Hyperplasia

• Galactosemia

• G-6-PD deficiency

• MSUD
Phenylketonuria
• Commonly known as PKU
• Occurs because of a deficiency in the enzyme
___________________ (PAH)

• This enzyme breaks down excess phenylalanine

(break down product of proteins) maintaining
normal levels in the body

• Deficiency in PAH leads to over accumulation of

phenylalanine in the blood and brain causing mental
retardation, seizures and other neurologic defects.
Congenital Hypothyroidism
• Congenital hypothyroidism is a partial or
complete loss of function of the thyroid gland
(hypothyroidism) that affects infants from birth
(congenital)

• Affected babies may show no features of the

condition, although some babies with congenital
hypothyroidism are less active and sleep more
than normal.
Congenital Adrenal Hyperplasia
• Congenital adrenal hyperplasia (CAH) are
any of
several autosomal recessive diseases resulting
from mutations of genes for enzymes mediating
the biochemical steps of production of
mineralocorticoids, glucocorticoids or sex
steroids from cholesterol by the adrenal
glands (steroidogenesis)
Galactosemia
• is a rare genetic (autosomal
recessive) metabolic disorder that affects an
individual's ability to metabolize the
sugar galactose properly

• Has three types. Each type has a specific enzyme

deficiency

• High mortality rate

G6PD Deficiency
• G6PD- ____________________________

• Deficiency may lead to inability of the body to

reduce oxidative substances in the body
MSUD
• Commonly because of genetic defects in
Chromosome 19

• Characteristic maple syrup odor of urine

• Due to enzymatic defects that leads to the

accumulation of three (3) amino acids
▫ ________________
▫ ________________
▫ ________________
MSUD
• May lead to seizures, coma and eventually death
RA 9288
• Otherwise known as _________________

• Approved on: _____________________ by

President ___________________

• Has 19 sections
Reference Laboratories in the
Philippines
• Research Institute for Tropical Medicine -
National Reference Laboratory for Dengue,
Influenza, Tuberculosis and other Mycobacteria,
Malaria and other parasites, Bacterial enteric
diseases, Measles and other Viral exanthems,
Mycology, Enteroviruses, Antimicrobial
resistance and Emerging Diseases; NRL for
confirmatory testing of blood units.
Reference Laboratories in the
Philippines
• San Lazaro Hospital - National Reference
Laboratory for HIV/AIDS, Hepatitis, Syphilis
and other Sexually Transmitted Infections
(STls).
Reference Laboratories in the
Philippines
• East Avenue Medical Center- National
Reference Laboratory for Environmental and
Occupational Health; Toxicology and
Micronutrient Assay
Reference Laboratories in the
Philippines
• National Kidney and Transplant Institute
- National Reference Laboratory for Hematology
including Immunohematology,
Immunopathology and Anatomic Pathology
(consistent with previously issued D.O. 301-1 s.
1999)
Reference Laboratories in the
Philippines
• Lung Center of the Philippines- National
Reference Laboratory for Biochemistry.