4.newborn screening

8/6/2019 4.Newborn Screening

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Newborn Screening:

KARROL ANNE M. TABULINA, RN



NEWBORN SCREENINGREPUBLIC ACT 9288

1996



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.



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.



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.



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



� 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).



� 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.



Who may collect the sample for newborn

screening?

A Trained

� physician

� nurse� midwife or

� medical technologist



� 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.



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.



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



disorders included in the

Newborn Screening Package



Congenital Hypothyroidism(CH)



THYROID

The th yroid is part of

the endocrine s y stem, w hich ismade up of several glands and tissues

that produce hormones.



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



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)



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



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



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



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.



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



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.



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.



TREATMENT

NEWBORN SCREENING

DETECTION

THYROID HOR MONE REPLACEMENT bef ore 2 week s old called L-thyroxine).



� 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



Congenital Adrenal Hyperplasia

(CAH)



ADRENAL GLANDS



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



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



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



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)



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



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 _________



Galactosemia (GAL)



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



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



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



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



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



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



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.



PHENYLKETONURIA/PKU



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.



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

� H ypopigmentation

� H yperactivit y � A utistic beha vior



� Screening of newborns f or 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 da y s.

� Protein diet restriction



Glucose-6-PhosphateDehydrogenase Deficiency

(G6PD Def)



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.



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.



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.



� 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.



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)



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



TRIGGERING FACTORS

� VITA MIN K

� Naphthalene (moth balls)

� FAVA beans

� Blueberries



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



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



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



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



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?



THE END

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