SlideShare una empresa de Scribd logo
1 de 88
Newborn Screening: 
ROSARIO ANNE R. BERNABE, MAN, RN ROSARIO ANNE R. BERNABE MAN 1
Objectives: 
1. Overview of Newborn Screening 
2. Provide knowledge and understanding about 
Newborn Screening in the Philippines. 
2. The role of NBS in identifying the 5 
metabolic disorders of newborn 
3. Describe the clinical manifestations and the 
complications that may arise if the disorders 
are not promptly detected and treated. 
4. The role of nurses in the prevention and 
management of metabolic disorders. ROSARIO ANNE R. BERNABE MAN 2
NEWBORN SCREENING 
1996 
REPUBLIC ACT 9288 
A public health program 
aimed at the early 
identification of infants 
who are affected by 
certain 
genetic/metabolic/ 
infectious conditions. 
PHOTO OREGONMOD.COM 
ROSARIO ANNE R. BERNABE MAN 3
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. 
• PHOTO OREGONMOD.COM 
ROSARIO ANNE R. BERNABE MAN 4
SIGNIFICANCE: 
NEWBORN SCREENING 
Most babies with metabolic 
disorders look normal at 
birth. 
onset of signs and symptoms 
irreversible. 
PHOTO CDC.GOV 
ROSARIO ANNE R. BERNABE MAN 5
NEWBORN SCREENING 
When is newborn screening done? 
• Newborn screening is ideally done on the 
48th hour or at least 24 hours from birth.. 
• The baby must be screened again after 2 
weeks for more accurate results. 
ROSARIO ANNE R. BERNABE MAN 6
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 air dried for 4 
hours and sent to the Newborn Screening 
Laboratory (NBS Lab) in Manila. 
ROSARIO ANNE R. BERNABE MAN 7
When are newborn screening 
results available? 
• Seven (7) working days from the time the 
newborn screening samples are received. 
• Laboratory result indicating an increased risk 
or of a heritable disorder (i.e. positive screen) 
shall be immediately released, within twenty-four 
(24) hours followed by confirmatory 
testing can be immediately done. 
ROSARIO ANNE R. BERNABE MAN 8
ROSARIO ANNE R. BERNABE MAN 9
Who may collect the sample for newborn 
screening? 
A Trained 
• physician 
• nurse 
• midwife or 
• medical technologist 
ROSARIO ANNE R. BERNABE MAN 10
Disorder Screened Effects SCREENED 
Effect if SCREENED 
and treated 
TREATMENT 
CH (Congenital 
Hypothyroidism 
Severe Mental 
Retardation 
Normal HORMONES 
CAH (Congenital 
Adrenal Hyperplasia) 
Death Alive and Normal HORMONES 
GAL (Galactosemia) Death or Cataracts Alive and Normal DIET RESTRICTION 
PKU (Phenylketonuria) 
Severe Mental 
Retardation 
Normal DIET RESTRICTION 
G6PD Deficiency 
Severe Anemia, 
Kernicterus 
Normal 
AVOIDANCE OF 
TRIGGERING 
FACTORS 
The five (5) metabolic disorders 
being identified by newborn screening 
ROSARIO ANNE R. BERNABE MAN 11
PHOTO DOH 
CONGENITAL HYPOTHYROIDISM 
ROSARIO ANNE R. BERNABE MAN 12
What does congenital mean? 
Congenital means existing at birth (inherited). 
ROSARIO ANNE R. BERNABE MAN 13
THYROID 
A butterfly-shaped 
organ at the base of 
the neck AND is part 
of the endocrine 
system, which is 
made up of several 
glands and tissues 
that produce 
hormones. 
ROSARIO ANNE R. BERNABE MAN 14
WHAT ARE HORMONES? 
Hormones are 
chemicals that 
send messages to 
other organs or 
tissues of the 
body, telling them 
to do specific 
things. 
ROSARIO ANNE R. BERNABE MAN 15
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 
ROSARIO ANNE R. BERNABE MAN 16
THYROID HORMONES 
1. TRI-IODOTHYRONINE (T3) 
2. THYROXINE (T4) - crucial for normal growth 
and development of the body and brain 
among newborns. 
ROSARIO ANNE R. BERNABE MAN 17
THYROID HORMONES 
Thyroid gland is regulated by 
1. HYPOTHALAMUS (produces THYROTROPIN 
RELEASING HORMONE TRH) 
2. PITUITARY GLAND (produces TSH) 
TRH stimulates the pituitary gland to produce 
THYROID STIMULATING HORMONE TSH. 
ROSARIO ANNE R. BERNABE MAN 18
NORMAL PATHOPHYSIOLOGY 
Low thyroid hormone level in circulation 
Hypothalamus releases TRH 
Pituitary gland releases TSH 
Stimulates thyroid gland to release thyroid hormones (T3 & T4) 
into bloodstream 
PT gland detects adequate hormone levels in body 
Slows down production of TSH 
ROSARIO ANNE R. BERNABE MAN 19
CONGENITAL HYPOTHYROIDISM 
HYPOTHYROIDISM 
is a condition in which the person does not 
make enough thyroid hormone. 
ROSARIO ANNE R. BERNABE MAN 20
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 
4. an inherent defect in manufacturing 
the thyroid hormone 
ROSARIO ANNE R. BERNABE MAN 21
MISSING, MISPLACED, TOO SMALL, OR NOT PRODUCING ENOUGH THYROID 
HORMONES 
Low thyroid hormone level in circulation 
Hypothalamus releases TRH 
Pituitary gland releases 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 
CONGENITAL HYPOTHYROIDISM 
ROSARIO ANNE R. BERNABE MAN 22
CONGENITAL HYPOTHYROIDISM 
Clinical Manifestations 
1.Jaundice 
2.Poor muscle tone 
3.Low body temperature 
4.Long protruding tongue 
5.Large anterior fontanel 
6.Umbilical hernia 
PHOTO: WIKIPEDIA 
ROSARIO ANNE R. BERNABE MAN 23
GOALS OF TREATMENT 
1. Maintain the T4 level of the client above the 
normal range. 
2. Maintain the TSH level in normal range 
(below 10 mIU/L) 
3. Avoid overtreatment 
- premature closure of cranial sutures and 
fontanelles 
4. Provide psychological support to the family 
ROSARIO ANNE R. BERNABE MAN 24
MANAGEMENT 
Thyroid Replacement before 2 weeks old 
TREATMENT 
L -THYROXINE tablet form for babies with CH 
-crushed into food or dissolved into a small amount 
of formula, juice or other liquid 
NOTE: DO NOT GIVE 
Soy-based formulas and iron supplements - reduce 
the amount of absorption 
ROSARIO ANNE R. BERNABE MAN 25
ROSARIO ANNE R. BERNABE MAN 26
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. Hormone replacement with 
_______ can abate mental retardation. 
ROSARIO ANNE R. BERNABE MAN 27
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. 
ROSARIO ANNE R. BERNABE MAN 28
CONGENITAL ADRENAL HYPERPLASIA 
ROSARIO ANNE R. BERNABE MAN 29
CONGENITAL ADRENAL HYPERPLASIA 
Congenital Adrenal 
Hyperplasia (CAH) 
A disorder present at 
birth and characterized 
by abnormalities in the 
production of certain 
hormones of the 
adrenal glands. 
ROSARIO ANNE R. BERNABE MAN 30
ADRENAL GLANDS 
Suprarenal glands 
Two small glands located 
superior to each kidney. 
Releases hormones 
1. Epinephrine or Adrenalin 
2. Cortisol 
3. Aldosterone 
ROSARIO ANNE R. BERNABE MAN 31
ADRENAL HORMONES 
EPINEPHRINE / ADRENALIN 
Secreted by adrenal medulla 
- the fight or flight 
hormone 
-prepares the body for 
vigorous physical 
activity. 
PHOTO: LIVESTRONG.CO,M 
ROSARIO ANNE R. BERNABE MAN 32
ADRENAL HORMONES 
ADRENAL CORTEX 
1. CORTISOL / 
HYDROCORTISONE 
- the “stress hormone” 
helps body cope w/ 
stressful situations 
protective mechanism 
of the body against 
illness or injury 
ROSARIO ANNE R. BERNABE MAN 33
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. BERNABE MAN 34
ADRENAL CORTEX HORMONES 
2. ALDOSTERONE-The 
salt retaining 
hormone 
ROSARIO ANNE R. BERNABE MAN 35
ALDOSTERONE (salt retaining hormone ) 
Blood pressure drops 
Sensed by pituitary gland 
Release ACTH 
Stimulates adrenal glands 
Directs our kidneys to pull salt and water out of urine and put it back into the 
blood 
Raises BP back to normal 
And prevents body from losing too much liquid 
ROSARIO ANNE R. BERNABE MAN 36
ADRENAL CORTEX HORMONES 
ANDROGEN 
MALE HORMONE 
Stimulate the 
development 
of male sexual 
Characteristics. 
PHOTOMINDANDMRUOSSCALREI.OC OAMNNE R. BERNABE MAN 37
CONGENITAL ADRENAL HYPERPLASIA 
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. 
ROSARIO ANNE R. BERNABE MAN 38
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 
ROSARIO ANNE R. BERNABE MAN 39
ADRENAL HORMONES 
PITUITARY GLAND 
• Responsible for giving commands to different glands of 
the body 
• releases hormone ACTH (Adrenocorticotrophic 
hormone) 
• Stimulate the production of adrenal hormones 
ROSARIO ANNE R. BERNABE MAN 40
What 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. BERNABE MAN 41
Inherited defect in production of specific enzyme 
21 HYDROXYLASE which is used by adrenal glands to produce 
CORTISOL AND ALDOSTERONE 
LOW LEVEL OF CORTISOL AND ALDOSTERONE 
SENSED BY THE PITUITARY GLAND 
ACTH 
ADRENAL GLAND 
WILL PUSH ADRENAL GLAND TO MAKE CORTISOL/ALDOSTERONE 
PITUITARY CONTINUES TO SRELEASE ACTH 
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 MAN 42
CLINICAL MANIFESTATIONS 
• SALT WASTING 
Deficient aldosterone will start losing too much water 
and salt via urine dehydration and very low blood 
pressure. This can be life-threatening if not treated right 
away. 
• Listlessness and drowsiness 
• Dehydration 
• Weight loss 
• Low blood pressure 
• Low blood salt 
• Too much acid in the blood, called metabolic acidosis 
ROSARIO ANNE R. BERNABE MAN 43
If not treated, 
severe dehydration leads to shock, a serious 
situation in which not enough blood is getting 
to the brain and other organs called the 
"adrenal crisis”. The signs of an adrenal crisis 
include: 
• Confusion 
• Irritability 
• Rapid heart rate 
• Coma 
ROSARIO ANNE R. BERNABE MAN 44
CHILDREN WITH CAH 
GIRLS 
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 
Severe acne 
BOYS 
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, adam’s apple, muscular build) 
SMALL TESTES UPON REACHING 
ADOLESCENCE ( has a scrotum of a little 
boy even when they are teenageers) 
Severe acne 
ROSARIO ANNE R. BERNABE MAN 45
MALE GENITALIA 
ROSARIO ANNE R. BERNABE MAN 46
Ambiguous clitoris 
ROSARIO ANNE R. BERNABE MAN 47
AMBIGUOUS CLITORIS FEMALE 
ROSARIO ANNE R. BERNABE MAN 48
CLITEROMEGALY - FEMALE 
ROSARIO ANNE R. BERNABE MAN 49
MANAGEMENT 
HORMONE REPLACEMENT 
• HYDROCORTISONE a synthetic form of cortisol 
in a pill form. 
• must be taken throughout life to prevent CAH effects. 
• CUSHING SYNDROME 
For those with abnormal genitalia PEDIATRIC 
SURGERY B4 3 yrs old to prevent psychological 
and emotional problems 
ROSARIO ANNE R. BERNABE MAN 50
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 
ROSARIO ANNE R. BERNABE MAN 
51
GALACTOSEMIA / GAL 
ROSARIO ANNE R. BERNABE MAN 52
Galactosemia (GAL) 
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. BERNABE MAN 53
Galactosemia (GAL) 
An inherited disorder that lacks an enzyme 
(galactose-1-phosphate uridyl 
transferase/Gal-1-PUT) which helps the body 
break down the galactose. 
ROSARIO ANNE R. BERNABE MAN 54
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-PHOSPHATE 
URIDYLTRANSFERASE/ GALT 
Glucose 
energy source by the body 
ROSARIO ANNE R. BERNABE MAN 55
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 
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 
ROSARIO ANNE R. BERNABE MAN 56
MANAGEMENT 
• 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. BERNABE MAN 57
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. 
ROSARIO ANNE R. BERNABE MAN 58
PHOTO PHGFOUNDATION.ORG 
PHENYLKETONURIA / PKU 
ROSARIO ANNE R. BERNABE MAN 59
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 
that converts into tyrosine causing elevation 
of phenylalanine in the blood. 
ROSARIO ANNE R. BERNABE MAN 60
Phenylketonuria (PKU) 
• Phenylalanine is neurotoxic 
• Excessive accumulation of phenylalanine in 
the body causes brain damage. 
ROSARIO ANNE R. BERNABE MAN 61
• Protein 
• smaller building blocks called amino acids. 
• A number of different enzymes are needed to 
process these amino acids for use by the 
body. Because of missing or non-working 
enzymes, people with amino acid disorders 
cannot process certain amino acids. 
• These amino acids, along with other toxic 
substances, then build up in the body and 
cause problems. 
• Mousy odor 
ROSARIO ANNE R. BERNABE MAN 62
PKU 
“phenylalanine hydroxylase” (PAH), is either 
missing or not working properly. 
ROSARIO ANNE R. BERNABE MAN 63
ROSARIO ANNE R. BERNABE MAN 64
The first effects are 
usually seen around 6 
months of age. 
Untreated infants may 
be late in learning to 
sit, crawl and stand. 
They may pay less 
attention to things 
around them. Without 
treatment, a child with 
PKU will become 
mentally retarded. 
ROSARIO ANNE R. BERNABE MAN 65
CLINICAL MANIFESTATIONS 
• Severe intellectual impairment 
• Microcephaly 
• Eczema 
• Seizures 
• Hypopigmentation 
• Hyperactivity 
• Autistic behavior 
ROSARIO ANNE R. BERNABE MAN 66
PKU 
ROSARIO ANNE R. BERNABE MAN 67
PHENYLKETONURIA 
• Screening of newborns for PKU entails a 
simple heel stick blood sampling test called 
the Guthrie test. 
ROSARIO ANNE R. BERNABE MAN 68
MANAGEMENT 
• should start as soon as possible but no later 
than 7 to 10 days. 
• Protein diet restriction 
ROSARIO ANNE R. BERNABE MAN 69
GLUCOSE-6-PHOSPHATE 
DEHYDROGENASE DEFICIENCY 
(G6PD DEF) 
ROSARIO ANNE R. BERNABE MAN 70
G6PD Def 
is an inherited condition in which the body lacks 
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. BERNABE MAN 71
G6PD Def 
• G6PD deficiency is an X-linked hereditary 
disease, which means it is caused by a 
defective gene and effects males almost 
exclusively and is transmitted by the mother 
only to son or daughter who will become 
another carrier. 
ROSARIO ANNE R. BERNABE MAN 72
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. 
ROSARIO ANNE R. BERNABE MAN 73
G6PD DEFICIENCY 
• 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. BERNABE MAN 74
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) 
ROSARIO ANNE R. BERNABE MAN 75
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 
ROSARIO ANNE R. BERNABE MAN 76
TRIGGERING FACTORS 
• VITAMIN K 
• Naphthalene (moth balls) 
• FAVA beans 
• Blueberries 
ROSARIO ANNE R. BERNABE MAN 77
PATHOPHYSIOLOGY 
Mother (carrier) Father 
(XX) (XY) 
defective X plus Y 
ROSARIO ANNE R. BERNABE MAN 78
DEFICIENT G6PD in RBC’S 
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. BERNABE MAN 79
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 
ROSARIO ANNE R. BERNABE MAN 80
PREVENTION/TREATMENT 
• limit exposure to the triggers of its symptoms 
• Folic acid 
• Phototherapy 
BLOOD TRANSFUSION 
ROSARIO ANNE R. BERNABE MAN 81
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 
ROSARIO ANNE R. BERNABE MAN 82
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 
ROSARIO ANNE R. BERNABE MAN 83
KEYPOINTS 
• NBS detects silent metabolic conditions as 
early as the first week of life. 
• Screening can prevent death and mental 
retardation. 
• Screening provide for effective management 
of metabolic disorder 
• Screening spares families and communities 
the burden and expense of caring for sick and 
mentally handicapped individuals 
ROSARIO ANNE R. BERNABE MAN 84
KEYPOINTS 
• Screening contributes to the development of 
healthy, productive citizens. 
ROSARIO ANNE R. BERNABE MAN 85
CRITICAL THINKING EXERCISE 
In the near future as you start your own family, 
you realized that both you and your 
husband/wife are carriers of any of the 5 
metabolic disorders. What will you do if you 
found out that you are already anticipating a 
child? 
ROSARIO ANNE R. BERNABE MAN 86
References 
Padilla et al. Inherited Disorders of Metabolism 
in the Newborn .Institute of Human 
Genetics, University of the Philippines, 
Manila 
G6PD Deficiency Primer. Institute of Human 
Genetics, National Institute of Health, 
University of the Philippines, Manila 
Phenylketonuria Brochure. Institute of Human 
Genetics, National Institute of Health, 
University of the Philippines, Manila 
ROSARIO ANNE R. BERNABE MAN 87
References 
Congenital adrenal Hyperplasia. Merck Manual. 
Sec 19, Ch.269, Endocrine and Metabolic 
disorders 
Essentials of Anatomy and Physiology 6th Edition 
http://www.doh.gov.org. 
http://www.galactosemia.org 
ROSARIO ANNE R. BERNABE MAN 88

Más contenido relacionado

La actualidad más candente

Gordons 11-functional-health-patterns
Gordons 11-functional-health-patternsGordons 11-functional-health-patterns
Gordons 11-functional-health-patterns
Reihchelle Bayad
 
Immediate Newborn Cordcare Checklist
Immediate Newborn Cordcare ChecklistImmediate Newborn Cordcare Checklist
Immediate Newborn Cordcare Checklist
floresmichaeltangog
 
Community health nursing examination part i answer key
Community health nursing examination part i answer keyCommunity health nursing examination part i answer key
Community health nursing examination part i answer key
ryanmejia
 

La actualidad más candente (20)

Newborn Screening | Infant Care | Health Care | Baby's First Test
Newborn Screening | Infant Care | Health Care | Baby's First TestNewborn Screening | Infant Care | Health Care | Baby's First Test
Newborn Screening | Infant Care | Health Care | Baby's First Test
 
IMCI
IMCIIMCI
IMCI
 
Essential intrapartum-newborn-care
Essential intrapartum-newborn-careEssential intrapartum-newborn-care
Essential intrapartum-newborn-care
 
DOH National Immunization Program
DOH National Immunization ProgramDOH National Immunization Program
DOH National Immunization Program
 
New born screening
New born screeningNew born screening
New born screening
 
Prenatal care
Prenatal carePrenatal care
Prenatal care
 
Pediatric Genetics - Newborn Screening Part 1
Pediatric Genetics - Newborn Screening Part 1Pediatric Genetics - Newborn Screening Part 1
Pediatric Genetics - Newborn Screening Part 1
 
Neonatal jaundice
Neonatal jaundice Neonatal jaundice
Neonatal jaundice
 
Gordons 11-functional-health-patterns
Gordons 11-functional-health-patternsGordons 11-functional-health-patterns
Gordons 11-functional-health-patterns
 
Physical Assessment for Pregnant women
Physical Assessment for Pregnant women Physical Assessment for Pregnant women
Physical Assessment for Pregnant women
 
Health Care Programs
Health Care ProgramsHealth Care Programs
Health Care Programs
 
Maternal and child health nursing
Maternal and child health nursingMaternal and child health nursing
Maternal and child health nursing
 
Metabolic screening in newborn
Metabolic screening in newborn   Metabolic screening in newborn
Metabolic screening in newborn
 
NCP Ineffective Infant Feeding Pattern
NCP Ineffective Infant Feeding PatternNCP Ineffective Infant Feeding Pattern
NCP Ineffective Infant Feeding Pattern
 
Care of normal new born baby
Care of normal new born babyCare of normal new born baby
Care of normal new born baby
 
Respiratory distress in newborn
Respiratory distress in newbornRespiratory distress in newborn
Respiratory distress in newborn
 
Immediate Newborn Cordcare Checklist
Immediate Newborn Cordcare ChecklistImmediate Newborn Cordcare Checklist
Immediate Newborn Cordcare Checklist
 
pdf-mmdst.docx
pdf-mmdst.docxpdf-mmdst.docx
pdf-mmdst.docx
 
Family health assessment
Family health assessmentFamily health assessment
Family health assessment
 
Community health nursing examination part i answer key
Community health nursing examination part i answer keyCommunity health nursing examination part i answer key
Community health nursing examination part i answer key
 

Destacado

Phenylketonuria: Genetic diseases
Phenylketonuria: Genetic diseases Phenylketonuria: Genetic diseases
Phenylketonuria: Genetic diseases
Bradley Young
 
Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
Phenylketonuria (PKU) and Congenital hypothyroidism (CH)Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
Mayang Colcol
 
Congenital hypothyroidism
Congenital hypothyroidism Congenital hypothyroidism
Congenital hypothyroidism
Ravindra Sharma
 

Destacado (13)

Breastfeeding & Newborn Screening
Breastfeeding & Newborn ScreeningBreastfeeding & Newborn Screening
Breastfeeding & Newborn Screening
 
phenylketonuria
phenylketonuriaphenylketonuria
phenylketonuria
 
Phenylketonuria
PhenylketonuriaPhenylketonuria
Phenylketonuria
 
Phenylketonuria ( PKU) - Dr Padmesh
Phenylketonuria ( PKU)  - Dr PadmeshPhenylketonuria ( PKU)  - Dr Padmesh
Phenylketonuria ( PKU) - Dr Padmesh
 
Phenylketonuria
PhenylketonuriaPhenylketonuria
Phenylketonuria
 
Phenylketonuria: Genetic diseases
Phenylketonuria: Genetic diseases Phenylketonuria: Genetic diseases
Phenylketonuria: Genetic diseases
 
Phenylketonuria (pku)
Phenylketonuria (pku)Phenylketonuria (pku)
Phenylketonuria (pku)
 
Phenylketonuria
Phenylketonuria Phenylketonuria
Phenylketonuria
 
MSUD
MSUDMSUD
MSUD
 
Phenylketonuria Ppt
Phenylketonuria PptPhenylketonuria Ppt
Phenylketonuria Ppt
 
Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
Phenylketonuria (PKU) and Congenital hypothyroidism (CH)Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
Phenylketonuria (PKU) and Congenital hypothyroidism (CH)
 
Congenital hypothyroidism
Congenital hypothyroidismCongenital hypothyroidism
Congenital hypothyroidism
 
Congenital hypothyroidism
Congenital hypothyroidism Congenital hypothyroidism
Congenital hypothyroidism
 

Similar a Newborn Screening updated

Q3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptx
Q3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptxQ3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptx
Q3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptx
KianJiroVitug
 
Role of thyroid gland in reproductive physiology
Role of thyroid gland in reproductive physiology  Role of thyroid gland in reproductive physiology
Role of thyroid gland in reproductive physiology
Unni Krishnan
 

Similar a Newborn Screening updated (20)

Q3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptx
Q3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptxQ3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptx
Q3-1.-The-Endocrine-System-Glands-and-Their-Hormones.pptx
 
Physiology of Endocrine System
Physiology of Endocrine System Physiology of Endocrine System
Physiology of Endocrine System
 
Adrenal gland - faunafondness
Adrenal gland - faunafondnessAdrenal gland - faunafondness
Adrenal gland - faunafondness
 
The endocrine system
The endocrine systemThe endocrine system
The endocrine system
 
Congenital hypothyroidism
Congenital hypothyroidismCongenital hypothyroidism
Congenital hypothyroidism
 
Hormonal presentation
Hormonal presentationHormonal presentation
Hormonal presentation
 
Cretinsm
CretinsmCretinsm
Cretinsm
 
L1.INTRODUCTION to ENDOCRINOLOGY MEDICINE.pptx
L1.INTRODUCTION to ENDOCRINOLOGY MEDICINE.pptxL1.INTRODUCTION to ENDOCRINOLOGY MEDICINE.pptx
L1.INTRODUCTION to ENDOCRINOLOGY MEDICINE.pptx
 
6. Endocrine physiology.pptx
6. Endocrine physiology.pptx6. Endocrine physiology.pptx
6. Endocrine physiology.pptx
 
Group 3b kallmann -final
Group 3b kallmann -finalGroup 3b kallmann -final
Group 3b kallmann -final
 
ENDOCRINE-SYSTEM-3.pdf
ENDOCRINE-SYSTEM-3.pdfENDOCRINE-SYSTEM-3.pdf
ENDOCRINE-SYSTEM-3.pdf
 
Polycystic ovarian syndrome(1).pdf
Polycystic ovarian syndrome(1).pdfPolycystic ovarian syndrome(1).pdf
Polycystic ovarian syndrome(1).pdf
 
1.6. Anatomy-Endocrine-System.ppt
1.6. Anatomy-Endocrine-System.ppt1.6. Anatomy-Endocrine-System.ppt
1.6. Anatomy-Endocrine-System.ppt
 
endocrine system
endocrine systemendocrine system
endocrine system
 
Endocrine system human anatomy and physiology
Endocrine system human anatomy and physiologyEndocrine system human anatomy and physiology
Endocrine system human anatomy and physiology
 
Congenital Hypothyrodism
Congenital HypothyrodismCongenital Hypothyrodism
Congenital Hypothyrodism
 
Pituitary Gland, its Hormones and Functions
Pituitary Gland, its Hormones and FunctionsPituitary Gland, its Hormones and Functions
Pituitary Gland, its Hormones and Functions
 
Day-1-Parts-of-the-Endocrine-System.ppt
Day-1-Parts-of-the-Endocrine-System.pptDay-1-Parts-of-the-Endocrine-System.ppt
Day-1-Parts-of-the-Endocrine-System.ppt
 
Role of thyroid gland in reproductive physiology
Role of thyroid gland in reproductive physiology  Role of thyroid gland in reproductive physiology
Role of thyroid gland in reproductive physiology
 
CHEMICAL COORDINATION AND ENDOCRINE SYSTEM BIOLOGY CLASS 11TH
CHEMICAL COORDINATION  AND ENDOCRINE SYSTEM BIOLOGY CLASS 11TH  CHEMICAL COORDINATION  AND ENDOCRINE SYSTEM BIOLOGY CLASS 11TH
CHEMICAL COORDINATION AND ENDOCRINE SYSTEM BIOLOGY CLASS 11TH
 

Último

Seal of Good Local Governance (SGLG) 2024Final.pptx
Seal of Good Local Governance (SGLG) 2024Final.pptxSeal of Good Local Governance (SGLG) 2024Final.pptx
Seal of Good Local Governance (SGLG) 2024Final.pptx
negromaestrong
 
Beyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global ImpactBeyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global Impact
PECB
 
1029-Danh muc Sach Giao Khoa khoi 6.pdf
1029-Danh muc Sach Giao Khoa khoi  6.pdf1029-Danh muc Sach Giao Khoa khoi  6.pdf
1029-Danh muc Sach Giao Khoa khoi 6.pdf
QucHHunhnh
 
Activity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdfActivity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdf
ciinovamais
 
The basics of sentences session 3pptx.pptx
The basics of sentences session 3pptx.pptxThe basics of sentences session 3pptx.pptx
The basics of sentences session 3pptx.pptx
heathfieldcps1
 

Último (20)

Role Of Transgenic Animal In Target Validation-1.pptx
Role Of Transgenic Animal In Target Validation-1.pptxRole Of Transgenic Animal In Target Validation-1.pptx
Role Of Transgenic Animal In Target Validation-1.pptx
 
INDIA QUIZ 2024 RLAC DELHI UNIVERSITY.pptx
INDIA QUIZ 2024 RLAC DELHI UNIVERSITY.pptxINDIA QUIZ 2024 RLAC DELHI UNIVERSITY.pptx
INDIA QUIZ 2024 RLAC DELHI UNIVERSITY.pptx
 
ComPTIA Overview | Comptia Security+ Book SY0-701
ComPTIA Overview | Comptia Security+ Book SY0-701ComPTIA Overview | Comptia Security+ Book SY0-701
ComPTIA Overview | Comptia Security+ Book SY0-701
 
Web & Social Media Analytics Previous Year Question Paper.pdf
Web & Social Media Analytics Previous Year Question Paper.pdfWeb & Social Media Analytics Previous Year Question Paper.pdf
Web & Social Media Analytics Previous Year Question Paper.pdf
 
Advanced Views - Calendar View in Odoo 17
Advanced Views - Calendar View in Odoo 17Advanced Views - Calendar View in Odoo 17
Advanced Views - Calendar View in Odoo 17
 
Grant Readiness 101 TechSoup and Remy Consulting
Grant Readiness 101 TechSoup and Remy ConsultingGrant Readiness 101 TechSoup and Remy Consulting
Grant Readiness 101 TechSoup and Remy Consulting
 
2024-NATIONAL-LEARNING-CAMP-AND-OTHER.pptx
2024-NATIONAL-LEARNING-CAMP-AND-OTHER.pptx2024-NATIONAL-LEARNING-CAMP-AND-OTHER.pptx
2024-NATIONAL-LEARNING-CAMP-AND-OTHER.pptx
 
Micro-Scholarship, What it is, How can it help me.pdf
Micro-Scholarship, What it is, How can it help me.pdfMicro-Scholarship, What it is, How can it help me.pdf
Micro-Scholarship, What it is, How can it help me.pdf
 
Seal of Good Local Governance (SGLG) 2024Final.pptx
Seal of Good Local Governance (SGLG) 2024Final.pptxSeal of Good Local Governance (SGLG) 2024Final.pptx
Seal of Good Local Governance (SGLG) 2024Final.pptx
 
Beyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global ImpactBeyond the EU: DORA and NIS 2 Directive's Global Impact
Beyond the EU: DORA and NIS 2 Directive's Global Impact
 
1029-Danh muc Sach Giao Khoa khoi 6.pdf
1029-Danh muc Sach Giao Khoa khoi  6.pdf1029-Danh muc Sach Giao Khoa khoi  6.pdf
1029-Danh muc Sach Giao Khoa khoi 6.pdf
 
Unit-IV; Professional Sales Representative (PSR).pptx
Unit-IV; Professional Sales Representative (PSR).pptxUnit-IV; Professional Sales Representative (PSR).pptx
Unit-IV; Professional Sales Representative (PSR).pptx
 
Activity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdfActivity 01 - Artificial Culture (1).pdf
Activity 01 - Artificial Culture (1).pdf
 
Measures of Central Tendency: Mean, Median and Mode
Measures of Central Tendency: Mean, Median and ModeMeasures of Central Tendency: Mean, Median and Mode
Measures of Central Tendency: Mean, Median and Mode
 
microwave assisted reaction. General introduction
microwave assisted reaction. General introductionmicrowave assisted reaction. General introduction
microwave assisted reaction. General introduction
 
The basics of sentences session 3pptx.pptx
The basics of sentences session 3pptx.pptxThe basics of sentences session 3pptx.pptx
The basics of sentences session 3pptx.pptx
 
Introduction to Nonprofit Accounting: The Basics
Introduction to Nonprofit Accounting: The BasicsIntroduction to Nonprofit Accounting: The Basics
Introduction to Nonprofit Accounting: The Basics
 
Nutritional Needs Presentation - HLTH 104
Nutritional Needs Presentation - HLTH 104Nutritional Needs Presentation - HLTH 104
Nutritional Needs Presentation - HLTH 104
 
Python Notes for mca i year students osmania university.docx
Python Notes for mca i year students osmania university.docxPython Notes for mca i year students osmania university.docx
Python Notes for mca i year students osmania university.docx
 
PROCESS RECORDING FORMAT.docx
PROCESS      RECORDING        FORMAT.docxPROCESS      RECORDING        FORMAT.docx
PROCESS RECORDING FORMAT.docx
 

Newborn Screening updated

  • 1. Newborn Screening: ROSARIO ANNE R. BERNABE, MAN, RN ROSARIO ANNE R. BERNABE MAN 1
  • 2. Objectives: 1. Overview of Newborn Screening 2. Provide knowledge and understanding about Newborn Screening in the Philippines. 2. The role of NBS in identifying the 5 metabolic disorders of newborn 3. Describe the clinical manifestations and the complications that may arise if the disorders are not promptly detected and treated. 4. The role of nurses in the prevention and management of metabolic disorders. ROSARIO ANNE R. BERNABE MAN 2
  • 3. NEWBORN SCREENING 1996 REPUBLIC ACT 9288 A public health program aimed at the early identification of infants who are affected by certain genetic/metabolic/ infectious conditions. PHOTO OREGONMOD.COM ROSARIO ANNE R. BERNABE MAN 3
  • 4. 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. • PHOTO OREGONMOD.COM ROSARIO ANNE R. BERNABE MAN 4
  • 5. SIGNIFICANCE: NEWBORN SCREENING Most babies with metabolic disorders look normal at birth. onset of signs and symptoms irreversible. PHOTO CDC.GOV ROSARIO ANNE R. BERNABE MAN 5
  • 6. NEWBORN SCREENING When is newborn screening done? • Newborn screening is ideally done on the 48th hour or at least 24 hours from birth.. • The baby must be screened again after 2 weeks for more accurate results. ROSARIO ANNE R. BERNABE MAN 6
  • 7. 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 air dried for 4 hours and sent to the Newborn Screening Laboratory (NBS Lab) in Manila. ROSARIO ANNE R. BERNABE MAN 7
  • 8. When are newborn screening results available? • Seven (7) working days from the time the newborn screening samples are received. • Laboratory result indicating an increased risk or of a heritable disorder (i.e. positive screen) shall be immediately released, within twenty-four (24) hours followed by confirmatory testing can be immediately done. ROSARIO ANNE R. BERNABE MAN 8
  • 9. ROSARIO ANNE R. BERNABE MAN 9
  • 10. Who may collect the sample for newborn screening? A Trained • physician • nurse • midwife or • medical technologist ROSARIO ANNE R. BERNABE MAN 10
  • 11. Disorder Screened Effects SCREENED Effect if SCREENED and treated TREATMENT CH (Congenital Hypothyroidism Severe Mental Retardation Normal HORMONES CAH (Congenital Adrenal Hyperplasia) Death Alive and Normal HORMONES GAL (Galactosemia) Death or Cataracts Alive and Normal DIET RESTRICTION PKU (Phenylketonuria) Severe Mental Retardation Normal DIET RESTRICTION G6PD Deficiency Severe Anemia, Kernicterus Normal AVOIDANCE OF TRIGGERING FACTORS The five (5) metabolic disorders being identified by newborn screening ROSARIO ANNE R. BERNABE MAN 11
  • 12. PHOTO DOH CONGENITAL HYPOTHYROIDISM ROSARIO ANNE R. BERNABE MAN 12
  • 13. What does congenital mean? Congenital means existing at birth (inherited). ROSARIO ANNE R. BERNABE MAN 13
  • 14. THYROID A butterfly-shaped organ at the base of the neck AND is part of the endocrine system, which is made up of several glands and tissues that produce hormones. ROSARIO ANNE R. BERNABE MAN 14
  • 15. WHAT ARE HORMONES? Hormones are chemicals that send messages to other organs or tissues of the body, telling them to do specific things. ROSARIO ANNE R. BERNABE MAN 15
  • 16. 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 ROSARIO ANNE R. BERNABE MAN 16
  • 17. THYROID HORMONES 1. TRI-IODOTHYRONINE (T3) 2. THYROXINE (T4) - crucial for normal growth and development of the body and brain among newborns. ROSARIO ANNE R. BERNABE MAN 17
  • 18. THYROID HORMONES Thyroid gland is regulated by 1. HYPOTHALAMUS (produces THYROTROPIN RELEASING HORMONE TRH) 2. PITUITARY GLAND (produces TSH) TRH stimulates the pituitary gland to produce THYROID STIMULATING HORMONE TSH. ROSARIO ANNE R. BERNABE MAN 18
  • 19. NORMAL PATHOPHYSIOLOGY Low thyroid hormone level in circulation Hypothalamus releases TRH Pituitary gland releases TSH Stimulates thyroid gland to release thyroid hormones (T3 & T4) into bloodstream PT gland detects adequate hormone levels in body Slows down production of TSH ROSARIO ANNE R. BERNABE MAN 19
  • 20. CONGENITAL HYPOTHYROIDISM HYPOTHYROIDISM is a condition in which the person does not make enough thyroid hormone. ROSARIO ANNE R. BERNABE MAN 20
  • 21. 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 4. an inherent defect in manufacturing the thyroid hormone ROSARIO ANNE R. BERNABE MAN 21
  • 22. MISSING, MISPLACED, TOO SMALL, OR NOT PRODUCING ENOUGH THYROID HORMONES Low thyroid hormone level in circulation Hypothalamus releases TRH Pituitary gland releases 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 CONGENITAL HYPOTHYROIDISM ROSARIO ANNE R. BERNABE MAN 22
  • 23. CONGENITAL HYPOTHYROIDISM Clinical Manifestations 1.Jaundice 2.Poor muscle tone 3.Low body temperature 4.Long protruding tongue 5.Large anterior fontanel 6.Umbilical hernia PHOTO: WIKIPEDIA ROSARIO ANNE R. BERNABE MAN 23
  • 24. GOALS OF TREATMENT 1. Maintain the T4 level of the client above the normal range. 2. Maintain the TSH level in normal range (below 10 mIU/L) 3. Avoid overtreatment - premature closure of cranial sutures and fontanelles 4. Provide psychological support to the family ROSARIO ANNE R. BERNABE MAN 24
  • 25. MANAGEMENT Thyroid Replacement before 2 weeks old TREATMENT L -THYROXINE tablet form for babies with CH -crushed into food or dissolved into a small amount of formula, juice or other liquid NOTE: DO NOT GIVE Soy-based formulas and iron supplements - reduce the amount of absorption ROSARIO ANNE R. BERNABE MAN 25
  • 26. ROSARIO ANNE R. BERNABE MAN 26
  • 27. 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. Hormone replacement with _______ can abate mental retardation. ROSARIO ANNE R. BERNABE MAN 27
  • 28. 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. ROSARIO ANNE R. BERNABE MAN 28
  • 29. CONGENITAL ADRENAL HYPERPLASIA ROSARIO ANNE R. BERNABE MAN 29
  • 30. CONGENITAL ADRENAL HYPERPLASIA Congenital Adrenal Hyperplasia (CAH) A disorder present at birth and characterized by abnormalities in the production of certain hormones of the adrenal glands. ROSARIO ANNE R. BERNABE MAN 30
  • 31. ADRENAL GLANDS Suprarenal glands Two small glands located superior to each kidney. Releases hormones 1. Epinephrine or Adrenalin 2. Cortisol 3. Aldosterone ROSARIO ANNE R. BERNABE MAN 31
  • 32. ADRENAL HORMONES EPINEPHRINE / ADRENALIN Secreted by adrenal medulla - the fight or flight hormone -prepares the body for vigorous physical activity. PHOTO: LIVESTRONG.CO,M ROSARIO ANNE R. BERNABE MAN 32
  • 33. ADRENAL HORMONES ADRENAL CORTEX 1. CORTISOL / HYDROCORTISONE - the “stress hormone” helps body cope w/ stressful situations protective mechanism of the body against illness or injury ROSARIO ANNE R. BERNABE MAN 33
  • 34. 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. BERNABE MAN 34
  • 35. ADRENAL CORTEX HORMONES 2. ALDOSTERONE-The salt retaining hormone ROSARIO ANNE R. BERNABE MAN 35
  • 36. ALDOSTERONE (salt retaining hormone ) Blood pressure drops Sensed by pituitary gland Release ACTH Stimulates adrenal glands Directs our kidneys to pull salt and water out of urine and put it back into the blood Raises BP back to normal And prevents body from losing too much liquid ROSARIO ANNE R. BERNABE MAN 36
  • 37. ADRENAL CORTEX HORMONES ANDROGEN MALE HORMONE Stimulate the development of male sexual Characteristics. PHOTOMINDANDMRUOSSCALREI.OC OAMNNE R. BERNABE MAN 37
  • 38. CONGENITAL ADRENAL HYPERPLASIA 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. ROSARIO ANNE R. BERNABE MAN 38
  • 39. 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 ROSARIO ANNE R. BERNABE MAN 39
  • 40. ADRENAL HORMONES PITUITARY GLAND • Responsible for giving commands to different glands of the body • releases hormone ACTH (Adrenocorticotrophic hormone) • Stimulate the production of adrenal hormones ROSARIO ANNE R. BERNABE MAN 40
  • 41. What 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. BERNABE MAN 41
  • 42. Inherited defect in production of specific enzyme 21 HYDROXYLASE which is used by adrenal glands to produce CORTISOL AND ALDOSTERONE LOW LEVEL OF CORTISOL AND ALDOSTERONE SENSED BY THE PITUITARY GLAND ACTH ADRENAL GLAND WILL PUSH ADRENAL GLAND TO MAKE CORTISOL/ALDOSTERONE PITUITARY CONTINUES TO SRELEASE ACTH 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 MAN 42
  • 43. CLINICAL MANIFESTATIONS • SALT WASTING Deficient aldosterone will start losing too much water and salt via urine dehydration and very low blood pressure. This can be life-threatening if not treated right away. • Listlessness and drowsiness • Dehydration • Weight loss • Low blood pressure • Low blood salt • Too much acid in the blood, called metabolic acidosis ROSARIO ANNE R. BERNABE MAN 43
  • 44. If not treated, severe dehydration leads to shock, a serious situation in which not enough blood is getting to the brain and other organs called the "adrenal crisis”. The signs of an adrenal crisis include: • Confusion • Irritability • Rapid heart rate • Coma ROSARIO ANNE R. BERNABE MAN 44
  • 45. CHILDREN WITH CAH GIRLS 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 Severe acne BOYS 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, adam’s apple, muscular build) SMALL TESTES UPON REACHING ADOLESCENCE ( has a scrotum of a little boy even when they are teenageers) Severe acne ROSARIO ANNE R. BERNABE MAN 45
  • 46. MALE GENITALIA ROSARIO ANNE R. BERNABE MAN 46
  • 47. Ambiguous clitoris ROSARIO ANNE R. BERNABE MAN 47
  • 48. AMBIGUOUS CLITORIS FEMALE ROSARIO ANNE R. BERNABE MAN 48
  • 49. CLITEROMEGALY - FEMALE ROSARIO ANNE R. BERNABE MAN 49
  • 50. MANAGEMENT HORMONE REPLACEMENT • HYDROCORTISONE a synthetic form of cortisol in a pill form. • must be taken throughout life to prevent CAH effects. • CUSHING SYNDROME For those with abnormal genitalia PEDIATRIC SURGERY B4 3 yrs old to prevent psychological and emotional problems ROSARIO ANNE R. BERNABE MAN 50
  • 51. 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 ROSARIO ANNE R. BERNABE MAN 51
  • 52. GALACTOSEMIA / GAL ROSARIO ANNE R. BERNABE MAN 52
  • 53. Galactosemia (GAL) 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. BERNABE MAN 53
  • 54. Galactosemia (GAL) An inherited disorder that lacks an enzyme (galactose-1-phosphate uridyl transferase/Gal-1-PUT) which helps the body break down the galactose. ROSARIO ANNE R. BERNABE MAN 54
  • 55. 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-PHOSPHATE URIDYLTRANSFERASE/ GALT Glucose energy source by the body ROSARIO ANNE R. BERNABE MAN 55
  • 56. 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 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 ROSARIO ANNE R. BERNABE MAN 56
  • 57. MANAGEMENT • 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. BERNABE MAN 57
  • 58. 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. ROSARIO ANNE R. BERNABE MAN 58
  • 59. PHOTO PHGFOUNDATION.ORG PHENYLKETONURIA / PKU ROSARIO ANNE R. BERNABE MAN 59
  • 60. 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 that converts into tyrosine causing elevation of phenylalanine in the blood. ROSARIO ANNE R. BERNABE MAN 60
  • 61. Phenylketonuria (PKU) • Phenylalanine is neurotoxic • Excessive accumulation of phenylalanine in the body causes brain damage. ROSARIO ANNE R. BERNABE MAN 61
  • 62. • Protein • smaller building blocks called amino acids. • A number of different enzymes are needed to process these amino acids for use by the body. Because of missing or non-working enzymes, people with amino acid disorders cannot process certain amino acids. • These amino acids, along with other toxic substances, then build up in the body and cause problems. • Mousy odor ROSARIO ANNE R. BERNABE MAN 62
  • 63. PKU “phenylalanine hydroxylase” (PAH), is either missing or not working properly. ROSARIO ANNE R. BERNABE MAN 63
  • 64. ROSARIO ANNE R. BERNABE MAN 64
  • 65. The first effects are usually seen around 6 months of age. Untreated infants may be late in learning to sit, crawl and stand. They may pay less attention to things around them. Without treatment, a child with PKU will become mentally retarded. ROSARIO ANNE R. BERNABE MAN 65
  • 66. CLINICAL MANIFESTATIONS • Severe intellectual impairment • Microcephaly • Eczema • Seizures • Hypopigmentation • Hyperactivity • Autistic behavior ROSARIO ANNE R. BERNABE MAN 66
  • 67. PKU ROSARIO ANNE R. BERNABE MAN 67
  • 68. PHENYLKETONURIA • Screening of newborns for PKU entails a simple heel stick blood sampling test called the Guthrie test. ROSARIO ANNE R. BERNABE MAN 68
  • 69. MANAGEMENT • should start as soon as possible but no later than 7 to 10 days. • Protein diet restriction ROSARIO ANNE R. BERNABE MAN 69
  • 70. GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY (G6PD DEF) ROSARIO ANNE R. BERNABE MAN 70
  • 71. G6PD Def is an inherited condition in which the body lacks 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. BERNABE MAN 71
  • 72. G6PD Def • G6PD deficiency is an X-linked hereditary disease, which means it is caused by a defective gene and effects males almost exclusively and is transmitted by the mother only to son or daughter who will become another carrier. ROSARIO ANNE R. BERNABE MAN 72
  • 73. 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. ROSARIO ANNE R. BERNABE MAN 73
  • 74. G6PD DEFICIENCY • 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. BERNABE MAN 74
  • 75. 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) ROSARIO ANNE R. BERNABE MAN 75
  • 76. 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 ROSARIO ANNE R. BERNABE MAN 76
  • 77. TRIGGERING FACTORS • VITAMIN K • Naphthalene (moth balls) • FAVA beans • Blueberries ROSARIO ANNE R. BERNABE MAN 77
  • 78. PATHOPHYSIOLOGY Mother (carrier) Father (XX) (XY) defective X plus Y ROSARIO ANNE R. BERNABE MAN 78
  • 79. DEFICIENT G6PD in RBC’S 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. BERNABE MAN 79
  • 80. 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 ROSARIO ANNE R. BERNABE MAN 80
  • 81. PREVENTION/TREATMENT • limit exposure to the triggers of its symptoms • Folic acid • Phototherapy BLOOD TRANSFUSION ROSARIO ANNE R. BERNABE MAN 81
  • 82. 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 ROSARIO ANNE R. BERNABE MAN 82
  • 83. 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 ROSARIO ANNE R. BERNABE MAN 83
  • 84. KEYPOINTS • NBS detects silent metabolic conditions as early as the first week of life. • Screening can prevent death and mental retardation. • Screening provide for effective management of metabolic disorder • Screening spares families and communities the burden and expense of caring for sick and mentally handicapped individuals ROSARIO ANNE R. BERNABE MAN 84
  • 85. KEYPOINTS • Screening contributes to the development of healthy, productive citizens. ROSARIO ANNE R. BERNABE MAN 85
  • 86. CRITICAL THINKING EXERCISE In the near future as you start your own family, you realized that both you and your husband/wife are carriers of any of the 5 metabolic disorders. What will you do if you found out that you are already anticipating a child? ROSARIO ANNE R. BERNABE MAN 86
  • 87. References Padilla et al. Inherited Disorders of Metabolism in the Newborn .Institute of Human Genetics, University of the Philippines, Manila G6PD Deficiency Primer. Institute of Human Genetics, National Institute of Health, University of the Philippines, Manila Phenylketonuria Brochure. Institute of Human Genetics, National Institute of Health, University of the Philippines, Manila ROSARIO ANNE R. BERNABE MAN 87
  • 88. References Congenital adrenal Hyperplasia. Merck Manual. Sec 19, Ch.269, Endocrine and Metabolic disorders Essentials of Anatomy and Physiology 6th Edition http://www.doh.gov.org. http://www.galactosemia.org ROSARIO ANNE R. BERNABE MAN 88