Newborn Screening:

KARROL ANNE M. TABULINA, RN

NEWBORN SCREENING
REPUBLIC ACT 9288
1996

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.

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

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.

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).

 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? 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.

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.

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 treated 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

Congenital Hypothyroidism (CH)

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

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 GLAND takes up iodine from the food we eat to make thyroid hormones and stores and releases them into the bloodstream as needed by the body
THYROID HORMONES 1. TRI-IODOTHYRONINE (T3) 2. THYROXINE (T4)

THYROID GLAND
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

PATHOPHYSIOLOGY
Low thyroid hormone level in circulation Hypothalamus releases TRH
to stimulate

Pituitary gland to produce / release TSH Stimulates thyroid gland to release stored thyroid hormones (T3 & T4) into bloodstream Pituitary gland detects adequate hormone levels in body Slows production of TSH

CONGENITAL HYPOTHYROIDISM
Low thyroid hormone level in circulation Hypothalamus releases TRH
stimulates

Pituitary gland release 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 Mental retardation/stunted growth

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
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

REVIEW
A newborn with congenital hypothyroidism (CH) has little or absent ________ hormone and excess _______ hormone in the body. In majority of cases, CH is caused by defective development of the ___________ gland, Maternal intake of _____________ can also cause elevated thyroid stimulating hormone in the newborn.

REVIEW
A newborn with congenital hypothyroidism (CH) has little or absent THYROID hormone and excess THYROID STIMULATING hormone in the body. In majority of cases, CH is caused by defective development of the THYROID gland. Maternal intake of ANTI-THYROID DRUGS can also cause elevated thyroid stimulating hormone in the newborn.

NEWBORN SCREENING

DETECTION

THYROID HORMONE REPLACEMENT before 2 weeks old called L-thyroxine).

TREATMENT

 Newborn Screening not done at birth Positive for Congenital Hypothyroidism No physical signs at birth Not treated immediately 14-year old retarded boy Newborn Screening done at birth Positive for Congenital Hypothyroidism Treated immediately Normal 7-year old girl

Congenital Adrenal Hyperplasia (CAH)

ADRENAL GLANDS

CORTISOL FUNCTIONS
PITUITARY GLAND
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

2. ALDOSTERONE salt retaining hormone 3. ANDROGEN male hormone

Low level of cortisol in 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

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 Releases ACTH Stimulates ADRENAL GLAND to produce CORTISOL STILL LOW LEVEL OF 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

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

BOYS

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 Failure to menstruate

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)

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

ADRENAL GLANDS HORMONES 1. 2. 3. CAH Inherited defect in production of specific enzyme _____________which is used by adrenal glands to produce ___________AND___________ CAH LACKS HORMONES _________ AND ___________ AND EXCESSIVE _________

REVIEW

Galactosemia (GAL)

WHAT IS GALACTOSEMIA?
Galactosemia is an inherited recessive deficiency in enzyme galactose-1-phosphate uridyl transferase / GALT that metabolizes galactose

1 in 60 000 newborns are diagnosed with Galactosemia every year

MILK
the primary source of galactose

http://learn.genetics.utah.edu/units/disorders/whataregd/galactosemia/images/galacpthwy.jpg

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

MILK digestion 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
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 failure to grow poor weight gain VOMITING, JAUNDICE,

DIARRHEA LIVER ENLARGEMENT

__________________________________________________ CATARACT LIVER DISEASE KIDNEY PROBLEMS BRAIN DAMAGE DEATH

TREATMENT
Avoid MILK and MILK PRODUCTS substituted with LACTOSE FREE or GALACTOSE FREE MILK such as SOY-BASED MILK FORMULA. COMPLICATIONS Susceptible to E. COLI

DIAGNOSIS Newborn screening for galactosemia is common

practice (blood taken from a heelprick)

Signs&Symptoms
Poor weight gain Lethargy Mental retardation death

REVIEW
IF LEFT UNTREATED, POSSIBLE OUTCOMES OF GALACTOSEMIA ARE THE FOLLOWING EXCEPT: A. DEATH B. LIVER DAMAGE C. DIARRHEA D. BLINDNESS TRUE/FALSE ... The enzyme GALACTOSE-1PHOSPHATE URIDYLTRANSFERASE converts glucose into galactose. TRUE/FALSE... GALACTOSEMIA is a rare genetic disorder that occurs when an individual has very little or no GALT.

PHENYLKETONURIA/ PKU

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 into tyrosine causing elevation of phenylalanine in the blood.

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

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

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)

G6PD Def
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.

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.

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.

 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
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
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

TRIGGERING FACTORS
VITAMIN K Naphthalene (moth balls) FAVA beans Blueberries

DEFICIENT G6PD in RBCS

TRIGERRING FACTORS

RBC DESTROYED

HEMOLYTIC ANEMIA SYMPTOMS pallor Dizziness Headache Difficulty breathing Palpitations Tea colored urine Etc

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

EXCESS BILIRUBIN ACCUMULATES

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

SIGNS 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 an enlarged spleen dark, tea-colored urine

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

REVIEW
_________ the vitamin that can trigger G6PD _________ the kind of acid that is administered to patients with hemolytic anemia brought about by G6PD _________ the color of urine of patients with G6PD

REVIEW
VITAMIN K the vitamin that can trigger G6PD FOLIC ACID the kind of acid that is administered to patients with hemolytic anemia brought about by G6PD TEA COLORED the color of urine of patients with G6PD Did you get a perfect score?

THE END

LONG QUIZ get lengthwise