rosario anne r bernabeNewborn Screening:ROSARIO ANNE R. BERNABE, RN, MAN
NEWBORN SCREENINGREPUBLIC ACT 92881996 rosario anne r bernabe
rosario anne r bernabeNEWBORN 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.
rosario anne r bernabeWhat 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 rosario anne r bernabeNEWBORN 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.
rosario anne r bernabeNEWBORN SCREENINGWhen 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 rosario anne r bernabe the heel prick method, a few drops of blood are taken from the babys 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).
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 rosario anne r bernabe screening?A Trained • physician • nurse • midwife or • medical technologist
rosario anne r bernabe• 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 rosario anne r bernaberesults 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.
Effect ifDisorder Effects SCREENED and TREATMENTScreened SCREENED treated anne r bernabe rosarioCH (Congenital Severe Mental Normal HORMONESHypothyroidism RetardationCAH (CongenitalAdrenal Death Alive and Normal HORMONESHyperplasia) DIETGAL (Galactosemia) Death or Cataracts Alive and Normal RESTRICTIONPKU Severe Mental DIET Normal(Phenylketonuria) Retardation RESTRICTION Severe Anemia,G6PD Deficiency Normal Kernicterus What are the five (5) disorders currently included in the newborn screening package?
disorders included in theNewborn Screening Package rosario anne r bernabe
rosario anne r bernabeWhat does congenital mean?Congenital means existing at birth (inherited).
Congenital Hypothyroidism(CH) rosario anne r bernabe
rosario anne r bernabeTHYROID The thyroid is part of the endocrine system, which is made up of several glands and tissues that produce hormones.
rosario anne r bernabeTHYROID HORMONE FUNCTIONS1. Responsible for the normal function of certain body organs and is essential for normal brain development2. Controls the development of muscles and bones as well as growth of teeth3. Main regulator of body temperature4. Helps maintain heart rate5. Helps in normalcy of bowel movements
THYROID HORMONES rosario anne r bernabe1. TRI-IODOTHYRONINE (T3)2. THYROXINE (T4)Thyroid gland is regulated by1. PITUITARY GLAND (produces TSH)2. HYPOTHALAMUS (produces THYROTROPIN RELEASING HORMONE TRH)TRH stimulates the pituitary gland to produce THYROID STIMULATING HORMONE TSH
rosario anne r bernabe Low thyroid hormone level in circulation Hypothalamus releases TRH Pituitary gland releases TSHStimulates thyroid gland to release thyroid hormones (T3 & T4) into bloodstreamPT gland detects adequate hormone levels in body Slows production of TSH
Low thyroid hormone level in circulation rosario anne r bernabe Hypothalamus releases TRH Pituitary gland releases TSHStimulates thyroid gland to release thyroid hormones (T3 & T4) into bloodstream Deficient or absent THYROID HORMONES Release more TSH HIGH TSH LOW/ABSENT T3 &T4PATHOPHYSIO CH
rosario anne r bernabeCongenital 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 babys physical growth will be stunted and she/he may suffer from mental retardation.
Congenital Hypothyroidism rosario anne r bernabeCAUSED 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 rosario anne r bernabe DETECTIONTHYROID HORMONE REPLACEMENT before 2 weeks oldTREATMENT
Congenital Adrenal Hyperplasia(CAH) rosario anne r bernabe
CORTISOL FUNCTIONS rosario anne r bernabePITUITARY GLAND• Responsible for giving commands to different glands of the body• releases hormone ACTH (Adrenocorticotrophic hormone) ADRENAL GLANDS1. CORTISOL is also known as HYDROCORTISONE - the “stress hormone” helps body cope w/ stressful situations protective mechanism of the body against illness or injury
rosario anne r bernabe1. 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”
rosario anne r bernabe2. ALDOSTERONE• salt-saving hormone OR salt retaining hormone• Helps balance water, sodium and potassium in the body.• Without enough aldosterone, the body can’t hold on to sodium and water.
rosario anne r bernabeANDROGENMALE HORMONE• A male fetus needs androgens for normal genital development.
rosario anne r bernabeWhat 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.
rosario anne r bernabeCongenital 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 theanne r bernabe rosario 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 rosario anne r bernabe 21 HYDROXYLASE which is used by adrenal glands to produce CORTISOL AND ALDOSTERONE SENSED BY THE PITUITARY GLAND ACTH ADRENAL GLAND CORTISOLPITUITARY 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
rosario anne r bernabe 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 anne r bernabe rosario NOTHING IS SUSPECTED AT BIRTHNOTHING IS SUSPECTED AT BIRTH ENLARGED PENISAbnormal sex organ ( large clitoris – appearance of small penis EARLY INCREASE IN HEIGHTClosed labial folds) Early appearance of pubic and axillaryEarly appearance of pubic and axillary hair hair EARLY DEVT OF MASCULINEExcessive hair on face, arms, legs, chest CHARACTERISTICS (deep voice, adam’s apple, muscular build)Deep voice SMALL TESTES UPON REACHINGFailure to menstruate ADOLESCENCE ( has a scrotum of a little boy even when they are teenageers)
rosario anne r bernabeCAH• A lifelong disorder• Incurable but treatableTREATMENT• HORMONE REPLACEMENTFor those with abnormal genitalia PEDIATRIC SURGERY B4 3 yrs old to prevent psychological and emotional problems
Galactosemia (GAL) rosario anne r bernabe 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.
rosario anne r bernabeGalactosemia (GAL)inherited disorder that lacks an enzyme (galactose- -phosphate uridyl transferase/Gal-1- PUT) which helps the body break down the galactose
MILK digestion anne r bernabe rosario Lactose broken down into glucose and galactose ________________________Glucose can be readily galactose needs to beused by the body as an converted into glucoseenergy source GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE/ GALT Glucose energy source by the body
MILK digestion rosario anne r bernabe Lactose broken down into glucose and galactose ______________________________________________Glucose can be readily galactose needs to beused by the body as an converted into glucoseenergy source Defective genes inherited from parents / defective GALT build up of galactoseHypoglycemic failure to grow poor weight gain VOMITING, JAUNDICE, DIARRHEA LIVER ENLARGEMENT__________________________________________________ CATARACT LIVER DISEASE KIDNEY PROBLEMS BRAIN DAMAGE DEATH
GALACTOSEMIA rosario anne r bernabe• 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- -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 % chance that the child could die.
rosario anne r bernabeTREATMENT• 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
rosario anne r bernabePhenylketonuria (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.
rosario anne r bernabePhenylketonuria (PKU)• Phenylalanine is neurotoxic• Excessive accumulation of phenylalanine in the body causes brain damage.
rosario anne r bernabeSymptoms• Severe intellectual impairment• Microcephaly• Eczema• Seizures• Hypopigmentation• Hyperactivity• Autistic behavior
rosario anne r bernabe• Screening of newborns for PKU entails a simple heel stick blood sampling test called the Guthrie test..
rosario anne r bernabeTREATMENT• should start as soon as possible but no later than 7 to 10 days.• Protein diet restriction
Glucose-6-PhosphateDehydrogenase Deficiency(G6PD Def) rosario anne r bernabe
G6PD Def rosario anne r bernabeis an inherited condition in which the body doesnt have enough of the enzyme glucose-6- phosphate 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.
rosario anne r bernabeG6PD Def• G6PD deficiency is an X-linked recessive hereditary disease, which means it is caused by a defective gene and effects males almost exclusively.
rosario anne r bernabeG6PD• 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.
rosario anne r bernabe• 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.
rosario anne r bernabeTRIGGERING FACTORSKids 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)
rosario anne r bernabeTRIGGERING 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
rosario anne r bernabeTRIGGERING FACTORS• VITAMIN K• Naphthalene (moth balls)• FAVA beans• Blueberries
DEFICIENT G6PD in RBC’S rosario anne r bernabe TRIGERRING FACTORS . RBC DESTROYED . HEMOLYTIC ANEMIA DESTROYED RBC BROKEN DOWN BY LIVER SYMPTOMS• pallor BILIRUBIN IS PRODUCED• Dizziness AS END PRODUCT• Headache• Difficulty breathing EXCESS BILIRUBIN ACCUMULATES• Palpitations 1. In the skin (jaundice)• Tea colored urine 2. Brain (mental retardation• Etc or death
rosario anne r bernabeSIGNS AND SYMPTOMSANEMIA 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
rosario anne r bernabeTREATMENT• 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 rosario anne r bernabeLONG QUIZ NEXT MEETING!!!SEE YAH