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Newborn Screening:
KARROL ANNE M. TABULINA, RN
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NEWBORN SCREENINGREPUBLIC ACT 9288
1996
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NEWBORN SCREENING
� Newborn screening (NBS) is a simple procedure to f ind out if a ba by has a congenital meta bolicdisorder that ma y lead to mental retardation and even death if left untreated.
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What is the mandate for performingNewborn Screening on every baby?
± RA 9288 k nown as the
³Newborn Screening Act of 2004´ with its Implementing R ules and R egulations.
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IMPORTANCE
NEWBORN SCREENING
� Most ba bies with meta bolicdisorders look normal at birth. One will never k now that the
ba by has the disorder until the onset of signs and s ymptomsand more often ill eff ects are already irreversible.
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NEWBORN SCREENING When is newborn screening done?
� Ideally done on the 48th to 72nd hour of lif e (f irst 2 to 3 da y s of lif e).
� ± Ma y also be done 24 hours f rom birth since some disorders are not detected if the test isdone earlier than 24 hours f rom birth
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� Newborn screening is a simple procedure. Using
the heel prick method, a f ew drops of blood are tak en f rom the ba by's heel and blotted on aspecial a bsorbent f ilter card. The blood is dried f or 4 hours and sent to the Newborn Screening
La boratory (NBS La b).
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� P550. The DOH A dvisory Committee on
Newborn Screening has approved a maximum allow a ble f ee of P50 f or the collection of the sample.
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Who may collect the sample for newborn
screening?
A Trained
� physician
� nurse� midwife or
� medical technologist
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� Newborn screening is a v aila ble in participating
health institutions (hospitals, lying-ins, R ural Health Units and Health Centers). If ba bies are delivered at home, ba bies ma y be brought to the nearest institution off ering newborn screening.
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When are newborn screening
results available?� Seven (7) work ing da y s f rom the time the newborn screening
samples are received parents should claim the results f rom their ph y sician, nurse, midwif e or health work er.
� A ny la boratory result indicating an increased risk of a herita ble disorder (i.e. positive screen) shall be immediately released, within t went y-f our (24) hours, so that conf irmatory testing can be immediately done.
� A positive screen means that the newborn must be ref erred at once to a specialist f or conf irmatory testing and f urther management.
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What are the five (5) disorders
currently included in the newborn
screenin acka e?
DisorderScreened
EffectsSCREENED
Effect if SCREENED andtreated
TREATMENT
CH (Congenital
H ypoth yroidism
Severe Mental
R etardation Normal HOR MONES
CAH (Congenital A drenal H yperplasia)
Death A live and Normal HOR MONES
GAL (Galactosemia) Death or Cataracts A live and Normal DIETRESTRICTION
PKU(Phenylk etonuria)
Severe Mental R etardation
Normal DIETRESTRICTION
G6PD Def icienc y Severe A nemia, K ernicterus Normal
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disorders included in the
Newborn Screening Package
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Congenital Hypothyroidism(CH)
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THYROID
The th yroid is part of
the endocrine s y stem, w hich ismade up of several glands and tissues
that produce hormones.
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THYROID HORMONE FUNCTIONS
1. R esponsible f or the normal function of
certain body organs and is essential f or normal brain development
2. Controls the development of muscles and bones as well as grow th of teeth
3. Main regulator of body temperature4. Helps maintain heart rate
5. Helps in normalc y of bowel movements
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THYROIDGLAND
tak es up iodine from the food we eat to mak e thyroid hormones and
stores and releases them into the bloodstream as needed by the body
THYROIDHORMONES
1. TRI-IODOTHYRONINE (T3)
2. THYROXINE (T4)
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THYROID GLAND
regulated by
1. PITUITARY GLA ND (produces TSH)
2. HYPOTHALA MUS (produces THYROTROPIN
RELEASING HOR MONE TRH)TRH stimulates the pituitary gland to produce
THYROID STIMULATING HOR MONE TSH
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P ATHOPHYSIOLOGY
Low th yroid hormone level in circulation
H ypothalamus releases TRHto stimulate
Pituitary gland to produce / release TSH
Stimulates th yroid gland to release stored th yroid hormones (T3 & T4) into bloodstream
Pituitary gland detects adequate hormone levels in body
Slow s production of TSH
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CONGENITAL HYPOTHYROIDISM
Low th yroid hormone level in circulation
H ypothalamus releases TRH
stimulates
Pituitary gland release TSH
Stimulates th yroid gland to release th yroid hormones (T3& T4) into bloodstream
Def icient or a bsent THYROID HOR MONES
R elease more TSH
HIGH TSH LOW/ABSENT T3 &T4
Mental retardation/stunted growth
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Congenital Hypothyroidism (CH)
CH results f rom a def icienc y (HYPOPLASIA) or a bsence of th yroid hormone (APLASIA) , w hich isessential to grow th of the brain and the
body.
� If the disorder is not detected and
hormone replacement is not initiated within (4) week s, the ba by's ph y sical grow th will be stunted and she/he ma y suff er f rom mental retardation.
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Congenital Hypothyroidism
CAUSED BY:
1. def ective development of thyroid gland
2. development of th yroid gland in an abnormal location
3. maternal intak e of anti-thyroidmedication or excess iodine
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REVIEW
A newborn with congenital h ypoth yroidism (CH)
has little or a bsent ________ hormone and excess _______ hormone in the body. In majorit y of cases, CH is caused by def ective development of the ___________ gland,
Maternal intak
e of _____________ can also cause elev ated th yroid stimulating hormone in the newborn.
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REVIEW
A newborn with congenital h ypoth yroidism (CH)
has little or a bsent THYROID hormone and excess THYROID STIMULATING hormone in the body. In majorit y of cases, CH is caused by def ective development of the THYROID gland.
Maternal intak
e of A NTI-THYROID DRUGScan also cause elev ated th yroid stimulating hormone in the newborn.
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TREATMENT
NEWBORN SCREENING
DETECTION
THYROID HOR MONE REPLACEMENT bef ore 2 week s old called L-thyroxine).
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� Newborn Screeningnot done at birth
Positive f or Congenital H ypoth yroidismNo ph y sical signs at birthNot treated immediately 14-year old retarded boy
� Newborn Screeningdone at birthPositive f or Congenital H ypoth yroidismTreated immediately Normal 7-year old girl
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Congenital Adrenal Hyperplasia
(CAH)
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ADRENAL GLANDS
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CORTISOL FUNCTIONS
PITUITARY GLA ND� R esponsible f or giving commands to diff erent glands of the body
� releases hormone ACTH (A drenocorticotrophic hormone)
ADREN AL GLA NDS1. CORTISOL is also k nown as HYDROCORTISONE -
the ³stress hormone´
helps body cope w / stressf ul situations
protective mechanism of the body against illness or in jury
2. ALDOSTERONE salt retaining hormone
3. A NDROGEN male hormone
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Low level of cortisol in the body
Sensed by PITUITARY GLA ND
R eleases ACTH
Stimulates ADREN AL GLA ND to produce more cortisol
__________________________________________
high level of cortisol in the body
Sensed by PITUITARY GLA ND
R educes amount of ACTH it releases
Decreased stimulation ADREN AL GLA ND
Decreased production of cortisol
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Inherited defect in production of specific enzyme21 HYDROXYLASE which is used by adrenal glands to produce
CORTISOL AND ALDOSTERONE
SENSED BY THE PITUITARY GLANDReleases ACTH
Stimulates ADRENAL GLAND to produce CORTISOL
STILL LOW LEVEL OF CORTISOL
PITUITARY GLAND SECRETE HORMONES THAT WILL PUSH ADRENAL GLAND TOMAKE CORTISOL/ALDOSTERONE
ACTH mobilizes the adrenal to work even harder and shifts to producingEXCESSIVE AMOUNTS OF ANDROGENS INSTEAD
Too much androgen
Girl babies develop masculine characteristicsBoy babies develop masculine characteristics too rapidly
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GIRLS BOYS
NOTHING IS SUSPECTED ATBIRTH
Abnormal sex organ ( large clitoris± appearance of small penis
Closed labial folds)
Early appearance of pubic andaxillary hair
Excessive hair on face, arms, legs,chest
Deep voice
Failure to menstruate
NOTHING IS SUSPECTED ATBIRTH
ENLARGED PENIS
EARLY INCREASE IN HEIGHT
Early appearance of pubic andaxillary hair
EARLY DEVT OF MASCULINECHARACTERISTICS
(deep voice, adam¶s apple,muscular build)
SMALL TESTES UPON REACHING A DOLESCENCE ( has a scrotumof a little boy even when they are teenageers)
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CAH
� A lif elong disorder
� Incura ble but treata ble
TREATMENT
� HOR MONE REPLACEMENT
For those with a bnormal genitalia PEDIATRIC SURGERY B4 3 yrs old to prevent ps y chological and emotional problems
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REVIEW
ADREN AL GLA NDS HOR MONES
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 _________
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Galactosemia (GAL)
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WHAT IS GALACTOSEMIA?
Galactosemia is an inheritedrecessive deficiency in enzymegalactose-1-phosphate uridyl transf erase
/ GALT that metabolizes galactose
1 in 60 000 newborns are diagnosedwith Galactosemia every year
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M I L Kthe primary source of galactose
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Galactosemia (GAL)
inherited disorder that lack s an enzyme (galactose-1-phosphate uridyl transf erase /GALT) w hich helps the body break down the galactose
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MILK digestion
Lactose broken down into glucose and galactose
________________________
Glucose can be readily galactose needs to be
used by the body as an converted into glucose
energy source
GALACTOSE-1-PHOSPHATEURID YLTRANSFERASE/ GALT
Glucose
energy source by the body
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MILK digestion
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 inheritedfrom parents / defective
GALT
build up of galactose
Hypoglycemic failure to grow poor weight gain VOMITING, JAUNDICE,D
IARRHEA LIVER ENLARGEMENT
__________________________________________________CATARACT LIVER DISEASE KIDNEY PROBLEMS
BRAIND AMAGE DEATH
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TREATMENT
� A void MILK and MILK PRODUCTS
substituted with LACTOSE FREE or GALACTOSE FREE MILK such as SOY -BASEDMILK FOR MULA .
COMPLICATIONSSusceptible to E. COLI
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DIAGNOSIS
� Poor weight gain
� Lethargy
� Mental retardation
� death
Newborn screening for galactosemia is commonpractice (blood taken from a heelprick)
S i g n s & S y m p t o m s
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REVIEWIF LEFT UNTREATED, POSSIBLE OUTCOMES OF GALACTOSEMIA
ARE THE FOLLOWING EXCEPT:
A . DEATH
B. LIVER DA M AGE
C. DIARRHEA D. BLINDNESS
TRUE/FALSE ... The enzyme GALACTOSE-1PHOSPHATEURIDYLTRA NSFERASE converts glucose into galactose.
TRUE/FALSE... GALACTOSEMIA is a rare genetic disorder thatoccurs w hen an individual has very little or no GALT.
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PHENYLKETONURIA/PKU
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Phenylketonuria (PKU)
� PKU is an autosomal recessive meta bolicdisorder in w hich the body cannot properly use one of the building blocks of proteincalled phenylalanine, an essential aminoacid 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.
48
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7/31/2011
48
Symptoms
� Severe intellectual impairment
� Microcephaly
� Eczema
� Seizures
� H ypopigmentation
� H yperactivit y � A utistic beha vior
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� Screening of newborns f or 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 da y s.
� Protein diet restriction
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Glucose-6-PhosphateDehydrogenase Deficiency
(G6PD Def)
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G6PD Def
is an inherited condition in w hich the body doesn'tha ve enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD,
w hich helps red blood cells (RBCs) f unction normally.
This def icienc y can cause hemolytic anemia, usually after exposure to certain medications,
f oods, or even inf ections.
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G6PD Def
� G6PD def icienc y is an X-link ed recessive
hereditary disease, w hich means it iscaused by a def ective gene and eff ectsmales almost exclusively.
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G6PD� is one of many enzymes that help the body
process carbohydrates and turn theminto energy .
� also protects red blood cells f rom potentially harmf ul byproducts that can accumulate w hen aperson tak es certain medications or w hen the
body is f ighting an inf ection.
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� W ithout enough G6PD to protect the blood , RBCs can be damaged or destroyed.
� Hemoly tic anemia is a disorder in w hich the red blood cells are destroyed faster than the bone marrow can produce them.
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TRIGGERING FACTORS
Kids with G6PD deficiency typically do not showany symptoms of the disorder until their redblood cells are exposed to certain triggers,which can be:
� illness, such as bacterial and viral inf ections
� certain paink illers and f ever-reducing drugs lik e aspirin
� certain antibiotics (especially those that ha ve "sulf" in their names lik e sulfamethoxazole -
bactrim)
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TRIGGERING FACTORS
� certain antimalarial drugs (especially those thatha ve "quine" in their names lik e chloroquine)
� SOYA f oods - taho, tok w a, soy sauce
� R ed wine
� Legumes - munggo, garbanzos, a bitsuelas
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TRIGGERING FACTORS
� VITA MIN K
� Naphthalene (moth balls)
� FAVA beans
� Blueberries
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DEFICIENT G6PD in RBC·STRIGERRING FACTORS
. RBC DESTROYED .
HEMOLYTIC ANEMIA DESTROYED RBC BROKEN
DOWN BY LIVERSYMPTOMS
� 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
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SIGNS AND SYMPTOMSANEMIA LIKE SYMPTOMS� paleness (in dark er-sk inned children paleness is
sometimes best seen in the mouth, especially on the lips or tongue)
� extreme tiredness
� rapid heart beat
� rapid breathing or shortness of breath
� jaundice, or yellowing of the sk
in and eyes, particularly in newborns
� an enlarged spleen
� dark , tea-colored urine
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TREATMENT
� limit exposure to the triggers of its s ymptoms
� Folic acid
� Phototherapy
� ABSOLUTE CURE IS GENE REPLACEMENTTHERAPY but this is not yet a v aila ble at the present time
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REVIEW
_________ the vitamin that can trigger G6PD
_________ the k ind of acid that is administered to patients with hemoly tic anemia brought a bout
by G6PD
_________ the color of urine of patients with
G6PD
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REVIEW
VITA MIN K the vitamin that can trigger G6PD
FOLIC ACID the k ind of acid that is administered to patients with hemoly tic anemia brought a bout
by G6PD
TEA COLORED the color of urine of patients
with G6PD
Did you get a perfect score?
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THE END
LONG QUIZ get ½ length wise