New Born Screening

Cool facts for the Cool facts for the day:day:When Britney Spears books into When Britney Spears books into hotels she uses the name hotels she uses the name

“ Allota Warmheart” so that “ Allota Warmheart” so that nobody will recognize her.nobody will recognize her.

The king of hearts The king of hearts is the only king is the only king without a without a moustache on a moustache on a standard playing standard playing cardcard

Chewing on gum Chewing on gum while cutting while cutting onions can help a onions can help a person from person from producing tears.producing tears.

Ants don’t sleep.Ants don’t sleep.

Goats’ eye have Goats’ eye have rectangular pupilsrectangular pupils

Pigs cannot look intoPigs cannot look into the sky the sky

New born New born screeningscreening

NBSNBS

Is a simple procedure to find out if your Is a simple procedure to find out if your baby has congenital metabolic d/obaby has congenital metabolic d/o

---that may lead to mental retardation or ---that may lead to mental retardation or even death if left untreatedeven death if left untreated

RA 9288RA 9288

Metabolic disorder may be detected even Metabolic disorder may be detected even before clinical s/sx are presentbefore clinical s/sx are present

Tx can be given to prevent Tx can be given to prevent consequences of untreated conditionsconsequences of untreated conditions

When:When:

24 hours after birth24 hours after birth Or even 48Or even 48thth-72-72ndnd hours of life hours of life

How:How:

Few drops are taken from the baby’s heelFew drops are taken from the baby’s heel Blotted to the special absorbent filter card Blotted to the special absorbent filter card

and then sent to the New Born Screening and then sent to the New Born Screening Center (NSC)Center (NSC)

Who will collect the Who will collect the sample:sample:

PhysicianPhysician NurseNurse Medical technologistsMedical technologists Trained midwifeTrained midwife

Where:Where:

Available in the ff:Available in the ff: HospitalsHospitals Lying-insLying-ins Rural Health UnitRural Health Unit Health CentersHealth Centers

How to claim result:How to claim result:

Health facilities where the NSB was doneHealth facilities where the NSB was done Normal result are available: 7-14 working Normal result are available: 7-14 working

days from time sample are received at days from time sample are received at NSCNSC

+ results are relayed to the parents + results are relayed to the parents immediately-- address and phoneimmediately-- address and phone

Meaning of NBS:Meaning of NBS:

Negative (-) screenNegative (-) screen

-- newborn result is NORMAL-- newborn result is NORMAL

Positive (+) ScreenPositive (+) Screen

--must be brought back to his health --must be brought back to his health practitionerpractitioner

Why do babies need to Why do babies need to be retested?be retested?

If the sample is taken <24 hours from If the sample is taken <24 hours from birthbirth

If there is a problem with the blood If there is a problem with the blood samplesample

If the first test showed a possible health If the first test showed a possible health problemproblem

***the attending physician will notify you if your baby ***the attending physician will notify you if your baby needs to be retestedneeds to be retested

What should be done when What should be done when a baby has a positive NBS a baby has a positive NBS result?result?

Should be referred at once to a specialist Should be referred at once to a specialist for confirmatory testing and further for confirmatory testing and further managementmanagement

Disorders that are included Disorders that are included in the Phil. NBS programin the Phil. NBS program

1.1. Congenital Hypothyroidism (CH)Congenital Hypothyroidism (CH)

2.2. Congenital Adrenal Hyperplasia (CAH)Congenital Adrenal Hyperplasia (CAH)

3.3. Galactosemia (GAL)Galactosemia (GAL)

4.4. Phenylketonuria (PKU)Phenylketonuria (PKU)

5.5. Glucose-6-Phosphate Dehydrogenase Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD def) Deficiency (G6PD def)

D/o ScreenedD/o Screened Effects if NOT Effects if NOT SCREENEDSCREENED

Effects if Effects if SCREEN & SCREEN & Treated earlyTreated early

CHCH Severe Mental Severe Mental RetardationRetardation

NormalNormal

CAHCAH DeathDeath Alive & NormalAlive & Normal

GALGAL Death/ CataractDeath/ Cataract Alive & NormalAlive & Normal

PKUPKU Severe Mental Severe Mental RetardationRetardation

Alive & NormalAlive & Normal

G6PD DefG6PD Def Severe Anemia, Severe Anemia, KernicterusKernicterus

NormalNormal

Congenital HypothyroidismCongenital Hypothyroidism

CH:CH:

CretinismCretinism ability to synthesize adequate amount ability to synthesize adequate amount

of thyroid hormone- physical & mental of thyroid hormone- physical & mental developmentdevelopment

permanentpermanent transienttransient

*defective thyroid gland *defective thyroid gland developmentdevelopment(Defect thyroxine synthesis)(Defect thyroxine synthesis)

*intrauterine transfer of *intrauterine transfer of goiter-inducing substances goiter-inducing substances (anti-thyroid /expectorant)(anti-thyroid /expectorant)

Clinical manifestations:Clinical manifestations:

Severity depends to the amount of Severity depends to the amount of thyroid tissue presentthyroid tissue present

Poor feeding, lethargy, prolonged Poor feeding, lethargy, prolonged neonatal jaundice, respi difficulty, neonatal jaundice, respi difficulty, cyanosis, constipation, bradycardiacyanosis, constipation, bradycardia

Most serious: MENTAL RETARDATIONMost serious: MENTAL RETARDATION

Untreated:+6 wks Untreated:+6 wks Classical featuresClassical features

Depressed nasal bridge Depressed nasal bridge Short foreheadShort forehead Puffy eyelidsPuffy eyelids Large tongueLarge tongue

*bone age is greatly retarded*bone age is greatly retarded

Dx:Dx:

Filter-paper blood-spot thyroxine T4Filter-paper blood-spot thyroxine T4

-24-48hours-24-48hours

-(early) False +-(early) False +

Result shows:Result shows:

T4 (<6mg/dl) and TSH (50uIU/ml)T4 (<6mg/dl) and TSH (50uIU/ml)

preterm & sick full-term repeat –corrected preterm & sick full-term repeat –corrected age: AFTER 30 WEEKS age: AFTER 30 WEEKS

Therapeutic mgt:Therapeutic mgt:

Life long thyroid hormone replacement Life long thyroid hormone replacement therapy – soon as possible after dxtherapy – soon as possible after dx

abolish all sign & reestablished normal abolish all sign & reestablished normal physical & mental developmentphysical & mental development

DOC: synthetic levothyroxine DOC: synthetic levothyroxine (Syntroid (Syntroid and Levothroid)and Levothroid)

If tx started early: normal physical growth If tx started early: normal physical growth and intelligence and intelligence

Nsg care:Nsg care: Early identificationEarly identification Life long tx- compliance with drug Life long tx- compliance with drug

regimenregimen Tasteless can crushed and mixedTasteless can crushed and mixed If dose missed: double next doseIf dose missed: double next dose

OverdoseOverdose Inadequate txInadequate tx

+ rapid pulse+ rapid pulse+dyspnea+dyspnea+irritability+irritability+Insomia+Insomia+fever, sweating, +fever, sweating, weight lossweight loss

+fatigue+fatigue+sleepiness+sleepinessDecrease appetiteDecrease appetiteconstipationconstipation

Phenylketunuria PKUPhenylketunuria PKU

A genetic d/o that results in CNS damage A genetic d/o that results in CNS damage from toxic level of phenylalanine in the from toxic level of phenylalanine in the blood (HYPERPHENYLALANINEMIA)blood (HYPERPHENYLALANINEMIA)

absence of enzyme phenylalanine absence of enzyme phenylalanine hydroxylase needed to metabolize the hydroxylase needed to metabolize the essential amino acid PHENYLALANINEessential amino acid PHENYLALANINE

Clinical manifestation:Clinical manifestation: Melanin: blond hair, blue eyes, fair Melanin: blond hair, blue eyes, fair

skin- susceptible to eczemaskin- susceptible to eczema Growth failureGrowth failure

In all childrenIn all children In older childrenIn older children

Digestive problem & Digestive problem & vomitingvomitingMental retardationMental retardationMusty odor urineMusty odor urine

Hypopigmentation Hypopigmentation of skinof skinEczemaEczemaHypertoniaHypertoniaBizarre behaviorBizarre behavior

Dx evaluation:Dx evaluation: GUTHRIE bacterial inhibition assay for GUTHRIE bacterial inhibition assay for

phenylalanine (bacillus subtilis)phenylalanine (bacillus subtilis)

NBorn: 0.5-1mg/dl --normalNBorn: 0.5-1mg/dl --normal Fresh heel blood – x cord bloodFresh heel blood – x cord blood Most reliable after taking infant proteinMost reliable after taking infant protein Not later than 7 daysNot later than 7 days + care provider+ care provider X layeringX layering Natural protein challenge test after Natural protein challenge test after

3mos. To confirm classic PKU 3mos. To confirm classic PKU

Therapeutic Therapeutic management:management:

Restriction of dietary proteinRestriction of dietary protein Maintain safe range of phenlylalanineMaintain safe range of phenlylalanine

(2-8mg/dl)(2-8mg/dl)

Brain damage: 11-15mg/dlBrain damage: 11-15mg/dl Meet child optimum level for growthMeet child optimum level for growth Special milk substitute +tyrosineSpecial milk substitute +tyrosine + breastmilk low protein + breastmilk low protein

Low phenylalanine diet throughout lifeLow phenylalanine diet throughout life 93% MR, 72% microcephaly93% MR, 72% microcephaly X high protein & dairy productsX high protein & dairy products Mother should be placed in low Mother should be placed in low

phenylalanine diet (pregnant)phenylalanine diet (pregnant)

Nursing care:Nursing care:

Diet restrictionDiet restriction Peer pressure – temptation in foodPeer pressure – temptation in food Involve in menu plan, reward – childInvolve in menu plan, reward – child Support family – express feelingsSupport family – express feelings Monitor physical, neurological, & Monitor physical, neurological, &

intellectual developmentintellectual development

galactosemiagalactosemia

Absence of hepatic enzyme --- galactose Absence of hepatic enzyme --- galactose 1-phospate uridyltrasferase 1-phospate uridyltrasferase

(conversion of galactose to glucose)(conversion of galactose to glucose)

Accumulation of Accumulation of activated 1-phospate activated 1-phospate metabolites of metabolites of galactose – extreme galactose – extreme toxic to various toxic to various tissues, tissues, *kidneys*kidneys*liver*liver*nervous system*nervous system

Hepatic dysfunction leads to:Hepatic dysfunction leads to:

-cirrhosis, resulting in jaundice in the -cirrhosis, resulting in jaundice in the infant by the second week of lifeinfant by the second week of life

Spleen-enlarged(portal hypertension)Spleen-enlarged(portal hypertension) Cataract– recognize at 1-2 mos.Cataract– recognize at 1-2 mos. Cerebral damageCerebral damage Lethargy & hypotoniaLethargy & hypotonia

Appear normal at birthAppear normal at birth-(ingest milk) show progressive symptoms -(ingest milk) show progressive symptoms like:like:

-vomiting-vomiting-diarrhea-diarrhea-weight loss-weight loss

SepsisSepsis deathdeath

Dx evaluation:Dx evaluation:

Infants’ hxInfants’ hx Physical examPhysical exam GalactosuriaGalactosuria Increase level of galactose in the bloodIncrease level of galactose in the blood

Tx mngt.:Tx mngt.:

Eliminate all milk & lactose containing Eliminate all milk & lactose containing food – breast milkfood – breast milk

Lactose-free formulaLactose-free formula Cereals- 4-6 mos.Cereals- 4-6 mos. Fruit juices and vegetable- 5-8 mosFruit juices and vegetable- 5-8 mos LACTOSE FREELACTOSE FREE GIVE- SOY MILKGIVE- SOY MILK

Tx birth- 2 mos long term complicationTx birth- 2 mos long term complication Eliminating source of galactose x improve Eliminating source of galactose x improve

outcomeoutcome

new strategies:new strategies: + enhance residual transferase activity+ enhance residual transferase activity Replace depleted metabolitesReplace depleted metabolites + gene replacement therapy+ gene replacement therapy

Nsg. Care:Nsg. Care:

Similar to PKUSimilar to PKU Diet: easier to maintain – many foods are Diet: easier to maintain – many foods are

allowedallowed X dairy productsX dairy products

Glucose-6-phospate Glucose-6-phospate dehydrogenase (G6PD)dehydrogenase (G6PD)

Is necessary to maintain of RBC lifeIs necessary to maintain of RBC life Lack of these enzymes are exposed to Lack of these enzymes are exposed to

oxidant such as ASA.(aspirin)oxidant such as ASA.(aspirin) +fever and back pain+fever and back pain +hemolytic anemia+hemolytic anemia Degree of RBC destruction depends on Degree of RBC destruction depends on

the drug and the extend of the exposurethe drug and the extend of the exposure

Avoidance of the drugs that include Avoidance of the drugs that include precipitate a reaction provides a simple precipitate a reaction provides a simple preventive measurespreventive measures

X aspirin, quinine-based antimararial X aspirin, quinine-based antimararial meds, anticonvulsant, meds, anticonvulsant,

Anesthetic agent may precipitate Anesthetic agent may precipitate symptoms of malignant hyperthermia symptoms of malignant hyperthermia

X BEANS= ADD hemolysis of bloodX BEANS= ADD hemolysis of blood

Congenital adrenal Congenital adrenal hyperplasia CAHhyperplasia CAH

Causes severe salt loss, dehydration and Causes severe salt loss, dehydration and abnormal high level of male sex abnormal high level of male sex hormoneshormones

Caused by decrease enzyme activity Caused by decrease enzyme activity required for cortisol production of adrenal required for cortisol production of adrenal cortexcortex

Increase production of ACTH –stimulate Increase production of ACTH –stimulate hyperplasia of adrenal glandhyperplasia of adrenal gland

Partial deficiency: enough aldosterone is Partial deficiency: enough aldosterone is produced & adequate cortisol to prevent produced & adequate cortisol to prevent sign of adrenocortical insufficiencysign of adrenocortical insufficiency

Complete 21-hydrolase: salt losing form, Complete 21-hydrolase: salt losing form,

aldosterone & cortisolaldosterone & cortisol

Clinical manifestation:Clinical manifestation:

androgen – musculinization 10androgen – musculinization 10thth wk of wk of fetal developmentfetal development

Most pronounce: female ambiguous Most pronounce: female ambiguous genetaliagenetalia

pigmentation of the skin -- ACTHpigmentation of the skin -- ACTH Salt wasting: few wks of lifeSalt wasting: few wks of life

-fail to wt gain, hyponatremia, -fail to wt gain, hyponatremia, heperkalemia. Cardiac arrestheperkalemia. Cardiac arrest

Untreated – early sexual maturationUntreated – early sexual maturation Females: amenorrheic, infertileFemales: amenorrheic, infertile Males: testes small, x spermatogenesisMales: testes small, x spermatogenesis Chromosomal typing - detect genetic Chromosomal typing - detect genetic

abnormalitiesabnormalities Ultrasound – identifies + or – female Ultrasound – identifies + or – female

organorgan CORTISONE – suppress abnormal high CORTISONE – suppress abnormal high

secretion of ACTHsecretion of ACTH

dosage during episode of infectiondosage during episode of infection Emergency situation: vomiting, sx, Emergency situation: vomiting, sx,

fracture, major injuries, bacterial and viral fracture, major injuries, bacterial and viral infectioninfection

Salt-losing type: ALDOSTERONE Salt-losing type: ALDOSTERONE REPLACEMENTREPLACEMENT

NSG MANAGEMENT:NSG MANAGEMENT:

Major importance: recognize ambiguous Major importance: recognize ambiguous genitalia genitalia

Prone to dehydrationProne to dehydration