NEWBORN SCREENING

It is a public health program of screening in infants shortly after birth for a list of conditions that
are treatable, but not clinically evident in the newborn period. A health professional will take a few drops
of blood from the baby’s heel. The blood sample is sent to a newborn screening lab for testing.

Diseases that can be assessed in Newborn Screening

1. Phenylketonuria
2. Galactosemia
3. Congenital Adrenal Hyperplasia
4. Congenital Hypothyroidism
5. Glocose-6-Phosphate Dehydrogenase Deficiency

PHENYLKETONURIA (PKU)

It is a metabolic disease that is inherited as autosomal recessive trait, wherein there is an absence of
enzyme phenylalanine hydroxylase.

Phenylalanine is found in foods that contain protein.

Symptoms:

• lighter skin, hair, and eyes

• Delayed mental and social skills
• Head size much smaller than normal
• Hyperactivity
• Jerking movements of the arms or legs
• Mental disability
• Seizures
Treatment

• PKU is a treatable disease. Treatment involves a diet that is very low in phenylalanine, particularly
when the child is growing. The diet must be strictly followed.

• There are large amounts of phenylalanine in milk, eggs, and other common foods. The artificial
sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing
aspartame should be avoided.

GALACTOSEMIA

People with galactosemia have problems

digesting a type of sugar
called galactose from the food they eat.
Because they cannot break down galactose
properly, it builds up in their blood. Galactose
is found in milk and all foods that contain
milk.
Symptoms

• Diarrhea and vomiting within a few

days of drinking milk or formula
containing lactose.

Some of the other early effects of

untreated galactosemia include:

• Failure to gain weight or grow in

length
• Poor feeding and poor suck
• Lethargy
• Irritability

Treatment

• Lactose and galactose-free diet

• Calcium supplements
• Monitoring health
• Informing friend, relatives, teachers and child-care providers

CONGENITAL ADRENAL HYPERPLASIA

Inherited disorders of the adrenal gland. It is located on top of

each of the kidneys.

These glands make hormones, such as cortisol and

aldosterone, which are essential for life. People with
congenital adrenal hyperplasia lack an enzyme of adrenal
gland that needs to make the hormones.

At the same time, the body produces more androgen, a type

of male sex hormone. This causes male characteristics to
appear early (or inappropriately).

Symptoms

• Children with milder forms may not have signs or symptoms and may not be diagnosed until as
late as adolescence.
• Girls with a more severe form often have abnormal genitals at birth and may be diagnosed before
symptoms appear.
• Boys will appear normal at birth, even if they have a more severe form.
• In children with the more severe form of the disorder, symptoms often develop within 2 or 3
weeks after birth.
• Poor feeding or vomiting
• Dehydration
• Electrolyte changes (abnormal levels of sodium and potassium in the blood)
 • Abnormal heart rhythm
• Girls with the milder form will usually have normal female reproductive organs (ovaries, uterus,
and fallopian tubes). They may also have the following changes:
• Abnormal menstrual periods or failure to menstruate
• Early appearance of pubic or armpit hair
• Excessive hair growth or facial hair
• Failure to menstruate
• Some enlargement of the clitoris
• Boys with the milder form often appear normal at birth. However, they may appear to enter
puberty early. Symptoms may include:
• Deepening voice
• Early appearance of pubic or armpit hair
• Enlarged penis but normal testes
• Well-developed muscles
• Both boys and girls will be tall as children, but much shorter than normal as adults.

Treatment

• The goal of treatment is to return hormone levels to normal, or near normal. This is done by taking
a form of cortisol, most often hydrocortisone. People may need additional doses of medicine
during times of stress, such as severe illness or surgery.

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

It is a condition in which red blood cells break down when the body is exposed to certain drugs or the
stress of infection. It is hereditary which means it is passed down in families.

G6PD deficiency occurs when a person is missing or does not have enough of an enzyme called glucose-
6-phosphate dehydrogenase. This enzyme helps red blood cells work properly.
Red blood cell destruction can be triggered by infections, severe stress, and certain drugs, including:

• Aspirin
• Antimalarial drugs
• Nonsteroidal anti-inflammatory drugs (NSAIDs)

Symptoms

• People with this condition do not display any signs of the disease until their red blood cells are
exposed to certain chemicals in food or medicine, or to stress.
• Symptoms are more common in men and may include:
• Dark urine Enlarge spleen
• Fatigue Pallor
• Rapid heart rate Shortness of breath
• Yellow skin color

Treatment

• Treatment may involve:

• Medicines to treat an infection, if present
• Stopping any drugs that are causing red blood cell destruction
• Transfusions, in some cases

CONGENITAL HYPOTHYROIDISM

Congenital means present at birth. Hypothyroidism is a condition in which the person does not make
enough thyroid hormone.

The thyroid gland is a butterfly-shaped

organ at the base of the neck. Its job is to make
specific hormones that help the cells of the body
function correctly. The main hormone made by the
thyroid gland is thyroid hormone, also called
‘thyroxine’, or T4.

People with hypothyroidism have specific

symptoms and health issues. Babies who do not
have enough thyroid hormone are often slow to
grow, are sluggish, and have learning delays and
other specific health problems.

Symptoms

Some babies have a yellow color to their skin or the whites of their eyes. This is called jaundice. Other
signs that may occur in early infancy include:

• Low activity level - babies sleep more than usual and don’t move as much
• Poor feeding and poor suck
 • Fewer bowel movements or constipation
• Floppy muscle tone (hypotonia)
• Swelling around the eyes and a puffy face
• Large swollen tongue
• Cool, pale, dry skin
• Large soft spot on the skull (the fontanel) that closes late
• Large belly with protruding navel (‘umbilical hernia’)
• If left untreated, babies may develop some or all of the following effects over time:
• Coarse, swollen facial features
• Breathing problems
• Hoarse-sounding cry
• Delayed milestones (sitting, crawling, walking, talking)
• Wide, short hands
• Poor weight gain and growth
• Goiter (enlarged thyroid gland causing a lump in the neck)
• Anemia
• Slow heart rate

Treatment

1. Medication
L-Thyroxine is a synthetic form of thyroid hormone (but its chemical structure is identical to that
produced by the normal thyroid gland). This is given in tablet form to all babies with CH. The doctor
and endocrinologist will decide how much L-thyroxine the baby needs and how often. The doctors
will increase the amount of medication as the child grows. L-thyroxine needs to be taken on a daily
basis through the child’s whole life.

2. Monitoring
The child will need regular visits to the doctor to check his or her weight, height, development and
overall health. The child will also likely need regular blood tests to check the level of thyroid
hormone. Blood tests are usually done every one to three months until age one, and then every two
to four months until age three. They can usually be done less often after age three.

3. Developmental Evaluation
The doctor may suggest a formal evaluation of the child’s development. If the child show delays in
certain areas of learning or speech, extra help can be arranged. Early intervention programs are
available in most states to provide services to children before they reach school age.