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NEWBORN SCREENING SIGNIFICANCE

Republic Act no. 9288 otherwise known as the Most babies with metabolic disorders look
Newborn Screening Act of 2004. “normal” at birth
A simple procedure to find out if your baby has a By doing newborn screening, metabolic disorders
congenital metabolic disorder that may lead to may be detected even before clinical signs and
mental retardation or even death if left untreated. symptoms are present
Number one cause is mental retardation Treatment can be given to prevent consequences
of untreated conditions.
Vision:
WHEN IS NBS DONE?
The national comprehensive newborn screening
system envisions all Filipino children will be born NBS is usually done on 48th-72nd hour of life
healthy and well, with an inherent right to life, It may also be done 24 hours from birth
endowed with human dignity; and reaching their
full potential with the right opportunities and Some disorders are not detected if the test is done
accessible resources. earlier than 24 hours.
Mission: HOW IS NBS DONE?
To ensure that all Filipino children will have Using a heel prick method, a few drops of blood
access to and avail of total quality care for the are taken from the baby’s heel and bottled on a
optimal growth and development of their full special absorbent filter card.
potential. The blood is dried for 4 hours and sent to
Goal: Newborn Screening Center.
To reduce preventable deaths of all Filipino WHO WILL CONDUCT THE SAMPLE FOR
newborns due to more common and rare NBS?
congenital disorders through timely screening and The blood sample for NBS may be collected by a
proper management. trained:
Program objectives: 1. Physician
By 2030 all Filipino newborns are screened; 2. Nurse
strengthen quality of service and intensify 3. Midwife
monitoring and evaluation of NBS 4. Medical Technologist
implementation; sustainable financial scheme; WHERE IS NBS AVAILABLE?
strengthen patient management.
NBS is available in participating newborn
POLICIES AND LAWS screening facilities:
Republic Act No. 9288 or the Newborn Screening 1. Hospitals
Act of 2004 2. Lying-ins
Administrative Order No. 2018-0025: National 3. Rural Health Unit
Policy and Strategic Framework on Expanded 4. Health centers
Newborn Screening for 2017-2030 If babies are delivered at home, they may be
Administrative Order No. 2014-0045 or the brought to the nearest newborn screening facility.
Guidelines on the Implementation of the WHEN ARE NBS RESULTS AVAILABLE?
Expanded Newborn Screening Program
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Normal NBS results are available 7-14 days from If not detected and treated early, babies may die
the time NBS samples are received at a newborn within 7-14 days.
screening centers Clinical Manifestations:
Positive NBS results are delayed from the NSC to  Salt wasting
the NSF immediately  Deficient aldosterone → will start losing
Parents should claim the NBS results from their too much water and salt via urine →
physician or health practitioner. dehydration and very low blood pressure.
This can be life-threatening if not treated
NEWBORN SCREENING RESULTS
right away.
A negative screen means a NBS result is normal  Listlessness and drowsiness
A positive screen means that the newborn must be  Dehydration
brought back to his/her health practitioner for  Weight loss
further testing
Babies with positive results should be referred at
once to a specialist for confirmatory testing and
further management.
CONGENITAL HYPOTHYROIDISM
Caused by:
 Defective development of thyroid gland.
 Development of thyroid gland in an
abnormal location.
 Maternal intake of anti-thyroid medication
or excess iodine.  Low blood pressure
 An inherent defect in manufacturing the  Low blood salt
thyroid hormone.  Too much acid in the blood, called
metabolic acidosis
Clinical Manifestations:
If not treated:
 Jaundice
 Poor muscle tone Severe dehydration leads to shock, a serious
 Low body temperature situation in which not enough blood is getting to
 Long protruding tongue the brain and other organs called the “adrenal
 Large anterior fontanel crisis”. The signs of an adrenal crisis include:
 Umbilical hernia
CONGENITAL ADRENAL HYPERPLASIA
A disorder present at birth and characterized by
abnormalities in the production of certain
hormones of the adrenal glands.
An endocrine disorder caused by abnormalities in
specific enzyme of the adrenal gland that causes
severe salt lose, dehydration and abnormally high
levels of male sex hormones in both boys and
girls.
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Confusion, Irritability, Rapid heart rate, and An enlarged spleen

Coma. Dark, tea-colored urine
GALACTOSEMIA (GAL) Prevention and treatment:
GAL is a condition in which the body is unable to  Limit exposure to the triggers of its
process galactose, the sugar present in milk. symptoms
Accumulation of excessive galactose in the body  Folic acid
can cause many problems, including liver damage,  Phototherapy
brain damage, and cataracts.  Blood transfusion
Management: MAPLE SYRUP URINE DISEASE
▪ Avoid milk and milk products Maple syrup urine disease is an inherited disorder
▪ Substitute with lactose free or galactose in which the body is unable to process certain
free milk such as soy-based milk formula protein building blocks (amino acids) properly.
▪ Galactose-restricted diet must be followed The condition gets its name from the distinctive
for life and requires close supervision and sweet odor of affected infants’ urine and is also
monitoring. characterized by poor feeding, vomiting, lack or
energy (lethargy), and developmental delay. If
PHENYLKETONURIA (PKU)
untreated, maples syrup urine disease can lead to
PKU is an autosomal recessive metabolic disorder seizures, coma, and death.
in which the body can not properly use one of the
This condition is inherited in an autosomal
building blocks of protein called phenylalanine,
recessive pattern.
and essential amino acid that converts into
tyrosine causing elevation of phenylalanine in the
blood
Management:
➢ Protein diet restriction
G6PD DEFICIENCY
Is inherited condition in which the body lacks the
enzyme glucose-6-phosphate dehydrogenase, or
G6PD, in which helps red blood cells (RBCs)
function normally.
This deficiency can cause hemolytic anemia,
usually after exposure to certain medications,
food, or even infections.
Sign and symptoms: Anemia-like symptoms
Paleness (in darker-skinned children
paleness is sometimes best seen in the
mouth, especially on the lips or tongue)
Extreme tiredness
Rapid heartbeat
Rapid breathing or shortness of breath
Jaundice or yellowing of the skin and eyes,
particularly in newborns