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Newborn Screening:
ROSARIO ANNE R. BERNABE, RN, MAN

NEWBORN SCREENING
REPUBLIC ACT 9288
1996

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rosario anne r bernabe

NEWBORN SCREENING

Newborn screening (NBS) is a simple procedure to find out if a baby has a congenital metabolic disorder that may lead to mental retardation and even death if left untreated.

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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.

IMPORTANCE NEWBORN SCREENING

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Most babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the onset of signs and symptoms and more often ill effects are already irreversible.

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NEWBORN SCREENING
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

 Newborn screening is a simple procedure. Using the heel prick method, a few drops of blood are taken from the baby's heel and blotted on a special absorbent filter card. The blood is dried for 4 hours and sent to the Newborn Screening Laboratory (NBS Lab).
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rosario anne r bernabe

P550. The DOH Advisory Committee on Newborn Screening has approved a maximum allowable fee of P50 for the collection of the sample.

Who may collect the sample for newborn screening?

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A Trained physician nurse midwife or medical technologist

 Newborn screening is available in participating health institutions (hospitals, lying-ins, Rural Health Units and Health Centers). If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening.

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When are newborn screening results available?

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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.

Disorder Screened CH (Congenital Hypothyroidism CAH (Congenital Adrenal Hyperplasia) GAL (Galactosemia) PKU (Phenylketonuria) G6PD Deficiency

Effects SCREENED Severe Mental Retardation Death Death or Cataracts Severe Mental Retardation Severe Anemia, Kernicterus

Effect if SCREENED and rosario treated anne r bernabe Normal

TREATMENT

HORMONES

Alive and Normal Alive and Normal Normal

HORMONES DIET RESTRICTION DIET RESTRICTION

Normal

What are the five (5) disorders currently included in the newborn screening package?

disorders included in the Newborn Screening Package

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rosario anne r bernabe

What does congenital mean?

Congenital means existing at birth (inherited).

Congenital Hypothyroidism (CH)

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THYROID
The thyroid is part of the endocrine system, which is made up of several glands and tissues that produce hormones.

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THYROID HORMONE FUNCTIONS

1. Responsible for the normal function of certain body organs and is essential for normal brain development 2. Controls the development of muscles and bones as well as growth of teeth 3. Main regulator of body temperature 4. Helps maintain heart rate 5. Helps in normalcy of bowel movements

THYROID HORMONES

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1. TRI-IODOTHYRONINE (T3) 2. THYROXINE (T4)

Thyroid gland is regulated by 1. PITUITARY GLAND (produces TSH) 2. HYPOTHALAMUS (produces THYROTROPIN RELEASING HORMONE TRH) TRH stimulates the pituitary gland to produce THYROID STIMULATING HORMONE TSH

Low thyroid hormone level in circulation Hypothalamus releases TRH Pituitary gland releases TSH Stimulates thyroid gland to release thyroid hormones (T3 & T4) into bloodstream PT gland detects adequate hormone levels in body Slows production of TSH

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Low thyroid hormone level in circulation

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Hypothalamus releases TRH

Pituitary gland releases TSH

Stimulates thyroid gland to release thyroid hormones (T3 & T4) into bloodstream Deficient or absent THYROID HORMONES Release more TSH HIGH TSH LOW/ABSENT T3 &T4

PATHOPHYSIO CH

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Congenital Hypothyroidism (CH)

CH results from a deficiency (HYPOPLASIA) or absence of thyroid hormone (APLASIA) , which is essential to growth of the brain and the body. If the disorder is not detected and hormone replacement is not initiated within (4) weeks, the baby's physical growth will be stunted and she/he may suffer from mental retardation.

Congenital Hypothyroidism
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CAUSED BY:
1. defective development of thyroid gland 2. development of thyroid gland in an abnormal location 3. maternal intake of anti-thyroid medication or excess iodine 4. an inherent defect in manufacturing the thyroid hormone

NEWBORN SCREENING
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DETECTION THYROID HORMONE REPLACEMENT before 2 weeks old

TREATMENT

Congenital Adrenal Hyperplasia (CAH)

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rosario anne r bernabe

ADRENAL GLANDS

CORTISOL FUNCTIONS
PITUITARY GLAND

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Responsible for giving commands to different glands of the body releases hormone ACTH (Adrenocorticotrophic hormone)

ADRENAL GLANDS 1. CORTISOL is also known as HYDROCORTISONE the stress hormone

helps body cope w/ stressful situations protective mechanism of the body against illness or injury

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1. CORTISOL
Helps control blood pressure, blood sugar and heart function. The body uses more cortisol during times of stress, injury and infection. Not having enough cortisol can be life threatening because it can lead to shock (dangerously low blood pressure), which is also known as an adrenal crisis

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2. ALDOSTERONE
salt-saving hormone OR salt retaining hormone

Helps balance water, sodium and potassium in the body. Without enough aldosterone, the body cant hold on to sodium and water.

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ANDROGEN
MALE HORMONE

A male fetus needs androgens for normal genital development.

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What does hyperplasia mean?

Hyperplasia means an abnormal increase in the number of cells that make up an organ or tissue. This causes the organ or tissue to enlarge.

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Congenital adrenal hyperplasia

is an inherited disorder that affects the production of certain hormones and causes the adrenal glands to become too big (hyperplastic).

Low level of cortisol in rosario anne r bernabe the body

Sensed by PITUITARY GLAND Releases ACTH Stimulates ADRENAL GLAND to produce more cortisol __________________________________________ high level of cortisol in the body Sensed by PITUITARY GLAND

Reduces amount of ACTH it releases Decreased stimulationADRENAL GLAND

Decreased production of cortisol

rosario anne r bernabe Inherited defect in production of specific enzyme 21 HYDROXYLASE which is used by adrenal glands to produce CORTISOL AND ALDOSTERONE

SENSED BY THE PITUITARY GLAND ACTH

ADRENAL GLAND CORTISOL

PITUITARY GLAND SECRETE HORMONES THAT WILL PUSH ADRENAL GLAND TO MAKE CORTISOL/ALDOSTERONE

ACTH mobilizes the adrenal to work even harder and shifts to producing EXCESSIVE AMOUNTS OF ANDROGENS INSTEAD
Too much androgen

Girl babies develop masculine characteristics Boy babies develop masculine characteristics too rapidly

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Congenital Adrenal Hyperplasia (CAH)

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. If not detected and treated early, babies may die within 7-14 days.

GIRLS

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NOTHING IS SUSPECTED AT BIRTH Abnormal sex organ ( large clitoris appearance of small penis Closed labial folds) Early appearance of pubic and axillary hair Excessive hair on face, arms, legs, chest Deep voice

NOTHING IS SUSPECTED AT BIRTH ENLARGED PENIS EARLY INCREASE IN HEIGHT Early appearance of pubic and axillary hair

EARLY DEVT OF MASCULINE CHARACTERISTICS (deep voice, adams apple, muscular build)
SMALL TESTES UPON REACHING ADOLESCENCE ( has a scrotum of a little boy even when they are teenageers)

Failure to menstruate

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rosario anne r bernabe

CAH
A lifelong disorder Incurable but treatable TREATMENT HORMONE REPLACEMENT
For those with abnormal genitalia PEDIATRIC SURGERY B4 3 yrs old to prevent psychological and emotional problems

Galactosemia (GAL)
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Galactosemia (GAL)
GAL is a condition in which the body is unable to process galactose, the sugar present in milk. Accumulation of excessive galactose in the body can cause many problems, including liver damage, brain damage and cataracts.

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rosario anne r bernabe

Galactosemia (GAL)
inherited disorder that lacks an enzyme (galactose-1-phosphate uridyl transferase/Gal-1PUT) which helps the body break down the galactose

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Lactose broken down into glucose and galactose ________________________

Glucose can be readily used by the body as an energy source galactose needs to be converted into glucose

GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE/ GALT

Glucose

energy source by the body

MILK digestion

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Lactose broken down into glucose and galactose ______________________________________________

Glucose can be readily used by the body as an energy source

galactose needs to be converted into glucose

Defective genes inherited from parents / defective GALT build up of galactose

Hypoglycemic

DIARRHEA LIVER ENLARGEMENT

failure to grow

poor weight gain VOMITING, JAUNDICE,

__________________________________________________ CATARACT LIVER DISEASE KIDNEY PROBLEMS BRAIN DAMAGE DEATH

GALACTOSEMIA

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Galactosemia is an inherited disorder that affects the way the body breaks down the sugar called galactose is broken down. A larger sugar called lactose, sometimes called milk sugar, is broken down by the body into galactose and glucose. The body uses glucose for energy. Because of the lack of the enzyme (galactose-1-phosphate uridyl transferase) which helps the body break down the galactose, it then builds up and becomes toxic. In reaction to this build up of galactose the body makes some abnormal chemicals. The build up of galactose and the other chemicals can cause serious health problems like a swollen and inflamed liver, kidney failure, stunted physical and mental growth, and cataracts in the eyes. If the condition is not treated there is a 70% chance that the child could die.

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TREATMENT
Avoid MILK and MILK PRODUCTS substituted with LACTOSE FREE or GALACTOSE FREE MILK such as SOY-BASED MILK FORMULA.

galactose-restricted diet must be followed for life and requires close supervision and monitoring

PHENYLKETONURIA/ PKU
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rosario anne r bernabe

Phenylketonuria (PKU)
PKU is an autosomal recessive metabolic disorder in which the body cannot properly use one of the building blocks of protein called phenylalanine, an essential amino acid that converts into tyrosine causing elevation of phenylalanine in the blood.

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Phenylketonuria (PKU)
Phenylalanine is neurotoxic

Excessive accumulation of phenylalanine in the body causes brain damage.

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Symptoms
Severe intellectual impairment Microcephaly Eczema Seizures Hypopigmentation Hyperactivity Autistic behavior

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rosario anne r bernabe

Screening of newborns for PKU entails a simple heel stick blood sampling test called the Guthrie test..

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TREATMENT
should start as soon as possible but no later than 7 to 10 days. Protein diet restriction

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Def)

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G6PD Def

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is an inherited condition in which the body doesn't have enough of the enzyme glucose-6phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections.

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G6PD Def
G6PD deficiency is an X-linked recessive hereditary disease, which means it is caused by a defective gene and effects males almost exclusively.

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G6PD
is one of many enzymes that help the body process carbohydrates and turn them into energy. also protects red blood cells from potentially harmful byproducts that can accumulate when a person takes certain medications or when the body is fighting an infection.

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Without enough G6PD to protect the blood , RBCs can be damaged or destroyed. Hemolytic anemia is a disorder in which the red blood cells are destroyed faster than the bone marrow can produce them.

TRIGGERING FACTORS

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Kids with G6PD deficiency typically do not show any symptoms of the disorder until their red blood cells are exposed to certain triggers, which can be: illness, such as bacterial and viral infections certain painkillers and fever-reducing drugs like aspirin certain antibiotics (especially those that have "sulf" in their names like sulfamethoxazole bactrim)

TRIGGERING FACTORS

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certain antimalarial drugs (especially those that have "quine" in their names like chloroquine)

SOYA foods - taho, tokwa, soy sauce Red wine Legumes - munggo, garbanzos, abitsuelas

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TRIGGERING FACTORS
VITAMIN K Naphthalene (moth balls)

FAVA beans
Blueberries

DEFICIENT G6PD in RBCS

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TRIGERRING FACTORS

RBC DESTROYED

HEMOLYTIC ANEMIA SYMPTOMS

DESTROYED RBC BROKEN DOWN BY LIVER BILIRUBIN IS PRODUCED AS END PRODUCT

EXCESS BILIRUBIN ACCUMULATES

pallor Dizziness Headache Difficulty breathing Palpitations Tea colored urine Etc

1. In the skin (jaundice) 2. Brain (mental retardation or death

SIGNS AND SYMPTOMS

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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 an enlarged spleen dark, tea-colored urine

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TREATMENT
limit exposure to the triggers of its symptoms Folic acid

Phototherapy
ABSOLUTE CURE IS GENE REPLACEMENT THERAPY but this is not yet available at the present time

THE END
LONG QUIZ NEXT MEETING!!!
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