Newborn Screening

By:
ROSE EDEN U. TULOY, RN, MN
Newborn Screening
 It is a public health program aimed at the early
identification of infants who are affected by
certain genetic/metabolic/infectious conditions.
 Early identification and intervention can lead to
significant reduction of morbidity, mortality and
associated disabilities in affected infant.
What is newborn screening?
• a simple procedure to find out if a baby has a congenital
metabolic disorder that may lead to mental retardation or
even death if left untreated.

What is the mandate for performing Newborn

Screening on every baby?
– RA 9288 known as the “Newborn Screening Act of
2004” with its Implementing Rules and Regulations.
Why is it important to have newborn screening?
– Most babies with metabolic disorder look normal at
birth.
– One will never know that the baby has the disorder
until the signs and symptoms are manifested. By this
time, irreversible consequences are already
present.

When is newborn screening done?

– Ideally done on the 48th to 72nd hour of life (first 2 to 3
days of life).
– May also be done 24 hours from birth since some
disorders are not detected if the test is done earlier
than 24 hours from birth.
 Benefits of NBS
1.Identification
2.Early intervention
3.Reduced morbidity
and mortality
4.Family planning
 The newborn screen is just that… a screen.
◦ Screening results, by themselves, cannot
determine the presence or absence of a
disorder.

 Diagnostic results refer to the combination of

signs, symptoms, and test results that allows
the doctor to confirm the diagnosis of a
respective disease.
How is newborn screening done?
• Using the heel prick method, a few drops of
blood are taken from the baby’s heel

• Blotted on a special absorbent filter

card

• Blood is dried for 4 hours and sent to the

Newborn Screening Center
The Heel Test
What about capillary tubes?
Not preferred
 Higher risk for collection error

◦ If used, must be sterile/clean & plain.

 No additives! Must be anti-coagulant free.
 However… no anti-coagulants = risk for clotting

◦ Risk of scratching the filter paper.

 Avoid touching the capillary tip to the paper.
◦ Use a new tube for each pre-printed circle.
 What about venous samples?

◦ Discouraged
◦ May be appropriate under certain
circumstances (e.g. NICU).
◦ More invasive than a heel stick.
◦ Do not draw blood from extremity with
infusing IV fluids.
 What about umbilical catheters?
● Discouraged
● May be appropriate under certain
circumstances (e.g. NICU).
● Ensure the line is cleared by withdrawing 2 –
2.5 cc (mL) of blood prior to collection a
specimen for NBS.
 What about umbilical cord
blood?
◦ Discouraged
◦ May be appropriate under certain
circumstances (e.g. NICU).
◦ Risk for maternal blood contamination.
◦ Repeat the newborn screen using the heel
stick method when indicated.
Who may collect the sample for newborn
screening?
A Trained
• physician
• nurse
• midwife or
• medical technologist
Where is newborn screening available?
• Available in participating
Newborn Screening Facilities
that includes
– hospitals
– lying-in centers
– RHU’s
– health centers.
• If babies are delivered at
home, the baby may be
brought to the nearest
Newborn Screening Facility.
When are newborn screening results
available?
• Seven (7) working days from the time the newborn screening
samples are received parents should claim the results from their
physician, nurse, midwife or health worker.

• Any laboratory result indicating an increased risk of a heritable

disorder (i.e. positive screen) shall be immediately released,
within twenty-four (24) hours, so that confirmatory testing can
be immediately done.

• A positive screen means that the newborn must be referred at

once to a specialist for confirmatory testing and further
management.
What does ‘screen positive’ mean?

•The infant is at increased risk for the

disorder indicated on the report.
•Further testing is needed to confirm the
diagnosis.
SIX (6) disorders currently included in the
newborn screening package?
Screened Effect if NOT Effect if SCREENED
SCREENED and TREATED
Congenital Hypothyroidism Severe Mental Normal
(CH) Retardation
Congenital Adrenal Death Alive and Normal
Hyperplasia (CAH)

Galactosemia (GAL) Death or Cataracts Alive and Normal

Phenylketonuria (PKU) Severe Mental Normal
Retardation
Glucose-6-phosphate Severe Anemia, Normal
dehydrogenase (G6PD) Deficiency Kernicterus
Maple Syrup Urine Disease Mental Normal
(MSUD) Retardation
Congenital Hypothyroidism
 Endocrine disorder of the thyroid gland, in which the gland fails to
develop or function properly, resulting in a lack of adequate thyroid
hormone production.(T3,T4)
 signs may not become apparent for months, after brain damage has
already occurred.
 Causes:
a. a missing, poorly formed, or abnormally small thyroid gland
b. a genetic defect that affects thyroid hormone production
c. too little iodine in the mother’s diet during pregnancy
d. radioactive iodine or antithyroid treatment for thyroid cancer
during pregnancy
e. use of medicines that disrupt thyroid hormone production — such
as antithyroid drugs, sulfonamides, or lithium — during pregnancy
CH Symptoms:
 lack of weight gain
 stunted growth
 fatigue, lethargy, excessive sleep (sluggishness)
 poor feeding
 thickened facial features
 abnormal bone growth
 mental retardation
 very little crying, Hoarse voice, cry
 constipation
 yellowing of the skin and whites of the eyes (jaundice)
 floppiness, low muscle tone (hypotonia)
 Delayed reflexes
 Swollen tongue
 swelling near the navel (umbilical hernia)
 Cool, dry, pale skin
CH Treatment:
 Pediatric endocrinologists treat babies with CH with thyroid hormone
(levothyroxine).
 treated within the first 4 weeks after birth or the
intellectual disability may be permanent.
 Levothyroxine - a pill that parents can crush up into
their baby’s breast milk, formula, or water
 Caution:
 Soy protein and concentrated iron formulas can
interfere with the absorption of thyroid hormone.
Congenital Adrenal Hyperplasia (CAH)
 Endocrine disorder of the adrenal glands resulting in a lack of the hormones
cortisol and aldosterone.
 Cortisol protects the body during stress/illness & regulates blood glucose.
two major types:
● Classic - rarer and is usually detected in infancy
■ 2/3 - salt-losing form
■ 1/3 - simple-virilizing form - less severe aldosterone deficiency

● Nonclassic - milder and more common, and may not become

evident until childhood or early adulthood.

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Classic CAH Symptoms:
● Female infants
○ ambiguous genitalia - clitoris is enlarged or the genitals look more
like those of a male child.
● Male infants – hypospadias, hyperpigmentation
● Both male and female infants can be seriously affected by a lack of
cortisol, aldosterone or both. This is known as an adrenal crisis, and it
can be life-threatening & can lead to complications within days after
birth.
 Monitor BMPs (for salt-wasting – hyponatremia; hyperkalemia).
 Low levels of sodium can lead to adrenal insufficiency & s/s
resembling dehydration. 26
Classic CAH Symptoms:
● Excess of the male sex hormones :

○ short height and early puberty for both boys and girls.

○ Appearance of pubic hair at a very early age

○ Rapid growth during childhood, but shorter than average final height

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Nonclassic CAH Symptoms:
● Often there are no symptoms when a baby is born.
● The condition is not identified on routine infant blood screening and usually becomes
evident in late childhood or early adulthood.
● Cortisol may be the only hormone that's deficient.
● Teenage and adult female may have normal appearing genitals at birth, but later in life,
they may experience:
○ Irregular or absent menstrual periods
○ Masculine characteristics such as facial hair, excessive body hair and a deepening
voice
○ Severe acne
● In both females and males, signs of nonclassic CAH may also include:
○ Early appearance of pubic hair
○ Rapid growth during childhood, an advanced bone age and shorter predicted final
height
29
CAH Causes:
● lack of the enzyme known as 21-hydroxylas. CAH may sometimes be
called 21-hydroxylase deficiency.
● two parents who either have CAH themselves
● autosomal recessive inheritance pattern - both carriers of the
genetic mutation

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Complications of CAH:
Classic:
● Adrenal crisis - low levels of cortisol in the blood.
 diarrhea, vomiting, dehydration, low blood sugar levels and shock
● ↓ Aldosterone - leads to dehydration and low sodium and high
potassium 
Nonclassic - doesn't cause adrenal crisis

 Males and females who have either classic or nonclassic CAH may

also experience fertility problems.

31
Diagnosis for CAH:
● Prenatal testing:
1. Amniocentesis
2. Chorionic villus sampling
● Newborns - screened for genetic 21-hydroxylase deficiency
● Older children and young adults
○ PE → Blood and urine tests (confirmatory)
○ Gene Testing
○ Testing to determine a child's sex
■ analyze chromosomes to identify genetic sex
■ pelvic ultrasound - presence of female reproductive structures such
as the uterus and ovaries.
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Treatment for CAH
● pediatric endocrinologist, & referral to urologists, psychologists and geneticists.
● goal of treating CAH with medications is to reduce excess androgen production
and replace deficient hormones
● classic CAH - by taking hormone replacement medications throughout their
lives.
● nonclassic CAH - may not require treatment or may need only small doses of
corticosteroids.
● taken on a daily basis
○ Corticosteroids replacement therapy - cortisol
○ Mineralocorticoids to replace aldosterone to help retain salt and get rid of
excess potassium
○ Salt supplements to help retain salt 33
Treatment for CAH
● Reconstructive surgery - severe ambiguous genitalia - make them look more feminine
 performed between 2 and 6 months of age
● Prenatal treatment
 Synthetic corticosteroids that cross the placenta to the fetus are controversial and
considered experimental. More research is needed to determine the long-term
safety and the effect of this treatment on fetal brain development.

34
GALACTOSEMIA (GAL)
• rare metabolic disorder that affects how the body processes a simple
sugar called galactose and turning it into energy

• can be life-threatening if left untreated

• If treated, children can live normal lives

• CAUSE:
• autosomal recessive inheritance pattern
GAL Symptoms:
 Poor feeding
 Vomiting
 Jaundice with whites of their eyes – due to high
bilirubin
 Diarrhea 
 severe weight loss 
 Failure to thrive.
GAL Symptoms:
 Without treatment:
 cataracts
 susceptible to infections
 liver damage (hepatomegaly) and kidney problems
 brain may not mature well → developmental
disabilities (MR)
 issues with their motor skills and muscles (Seizure)
 Girls - ovaries stops working→can’t have children.
Testing and Treatment for GAL
• + in NBS, follow-up test - blood and urine sample – to confirm
• Diet
 soy-based formula and must avoid milk or milk
byproducts
 cutting out some fruits, vegetables, and candies that
contain galactose
 calcium, vitamin C, vitamin D, and vitamin K
supplementation
• Girls with GAL - may require hormone treatment when they reach puberty
● rare inherited disorder that causes an amino acid called phenylalanine
to build up in the body
● Reduced or absent activity of phenylalanine hydroxylase (PAH), an
enzyme responsible for converting the amino acid phenylalanine into
tyrosine.
● The result is a toxic buildup of phenylalanine in the blood, which can
lead to irreversible brain damage.
● Sources of phenylalanine include protein & some artificial sweeteners.

40
PKU Symptoms:
 Irritability
 Seizures
 “Musty” or “Mouse-like” body odor - breath, skin or urine
 Fair skin and blue eyes, because phenylalanine can't transform into melanin
 Skin rashes (eczema)
 Abnormally small head (microcephaly)
 Hyperactivity
 Intellectual disability
 Development delays
 Behavioral, emotional and social problems
 Psychiatric disorders
41
42
Causes of PKU
● defective gene (genetic mutation)
● autosomal recessive inheritance pattern

Complications: (untreated)
○ Irreversible brain damage and marked intellectual disability beginning within the
first few months of life
○ Neurological problems such as seizures and tremors
○ Behavioral, emotional and social problems in older children and adults
○ Major health and developmental problems

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Treatment for PKU
● A lifetime diet with very limited intake of protein
● Taking a PKU formula — a special nutritional supplement — for life to make sure you
get enough essential protein (without phenylalanine) and nutrients that are crucial for
growth and general health
● Foods to avoid:
 Milk, Eggs, Cheese
 Nuts, Soybeans, Beans
 Chicken, Beef, Pork, Fish
 In limitations - Potatoes, grains and other vegetables
 diet sodas and other drinks that contain aspartame (NutraSweet, Equal).
Aspartame is an artificial sweetener made with phenylalanine.
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Treatment for PKU
● Neutral amino acid therapy -powder or tablet form

○ block some absorption of phenylalanine

● Sapropterin (Kuvan) - treat PKU

○ works by increasing your tolerance to phenylalanine.

○ use in combination with a PKU diet

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Maple Syrup Urine Disease (MSUD)
  rare metabolic disorder caused by a defect in the enzymes that break
down some amino acids from proteins because their bodies don’t
produce the necessary enzymes.
 This causes a buildup of toxins in your body that can damage your
brain and other organs. It can even lead to death if untreated. 
 Cause:  - autosomal recessive inheritance pattern
 4 main types 
 Classic or infantile MSUD
 Intermediate MSUD
 Intermittent MSUD
 Thiamine-responsive MSUD
Glucose-6-phosphate dehydrogenase (G6PD) Deficiency
● a genetic disorder that affects RBCs, which carry O2 from the lungs to tissues
throughout the body, most often on males
● defect in an enzyme called glucose-6-phosphate dehydrogenase causes RBCs
to break down prematurely
● most common medical problem - hemolytic anemia, which occurs when RBCs
are destroyed faster than the body can replace them.
● S/S:
○ Paleness, fever, abdominal pain, splenomegaly, hepatomegaly
○ yellowing of the skin and whites of the eyes (jaundice)
○ dark urine
○ Fatigue
○ SOB
○ rapid heart rate 47
Glucose-6-phosphate dehydrogenase (G6PD) Deficiency
● often triggered by:
○ bacterial or viral infections
○ some painkillers and fever-lowering drugs (Aspirin at high dose), NSAIDS
○ certain drugs (such as some antibiotics “sulf” and medications used to treat
malaria “quine”)
○ Other chemicals, such as those in mothballs
● Many people with this disorder, however, never experience any signs or symptoms and
are unaware that they have the condition.

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Glucose-6-phosphate dehydrogenase (G6PD) Deficiency
Exams and Tests
○ Bilirubin level
○ Complete blood count
○ Hemoglobin - urine
○ Haptoglobin level
○ LDH test
○ Methemoglobin reduction test
○ Reticulocyte count

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Glucose-6-phosphate dehydrogenase (G6PD) Deficiency
Treatment: - simple as removing the trigger.
 treating the infection (if present)
 stopping the use of a drug causing hemolysis
 severe anemia - treatment in the hospital to get oxygen and fluids.
 BT, in some case

Possible Complications:
 kidney failure or death may occur following a severe hemolysis

50
4 main types
1. Classic or infantile MSUD
 most common and severe form,
 show symptoms in the first three days after birth
 either completely lack the necessary enzymes or produce
too few of them to effectively break down amino acids.
2. Intermediate MSUD
 less severe than classic
 show up in babies and children between ages 5
months and 7 years.
4 main types
3. Intermittent MSUD
 will grow and develop normally
 Sx usually won’t show up until sickness or stress causes
them to appear.
 can often tolerate higher levels of the amino acids in their
urine and bloodstreams. 
4. Thiamine-responsive MSUD
 Thiamine, or vitamin B1, helps boost enzyme activity so that
your body can break down amino acids better
 improvement of their symptoms when taking high doses of
thiamine and following a special diet that limits protein. 
MSUD Symptoms:
  pee, earwax, sweat that smells sweet, like maple syrup or burnt sugar
 untreated classic MSUD
 irritable, have longer or irregular sleep patterns, and
have difficulty eating and breathing, muscle spasms,
fall into a coma, or stop breathing entirely.
 As they get older, they are at risk for physical and
mental disabilities or developmental delays. 
MSUD Symptoms:
  Intermediate, intermittent, and thiamine-responsive MSUD symptoms can
happen at any age.
 can show up or become worse if you are sick or under stress. Symptoms in
older children or adults include:
 Stomach pain
 Vomiting
 Anorexia and weight loss
 Muscle weakness or loss of control
 Involuntary movements
 Slurred speech
 Changes in consciousness or trouble remaining alert
MSUD Treatment:
 control buildup of amino acids in your body
 special diet to restrict the amount of protein you eat while still
providing the nutrients your body needs
 severe symptoms:
 IVs or feeding tubes to help deliver needed nutrients.
 glucose or insulin IVs to help regulate the amount of
amino acids in your blood
 filter your blood completely with a type of dialysis.
 Liver transplants offer a permanent treatment
 Donated livers will produce the necessary enzymes to
break down the amino
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