93893963 Newborn Screening Summary 2010
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Transcript of 93893963 Newborn Screening Summary 2010
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Newborn Screening in the
Philippines
Wilfredo R. Santos, MD
Neonatologist
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CASE NO. 1
Baby Boy M was born via NSD to a 32 year
old G2P1 mother who had regular prenatal
check-up and had UTI at 8 months AOG. At
birth, he had good cry with an APGAR
score of 8,9. Patient was term with a BW =
3.2 kg. He was breastfed and was
apparently well until after a week
manifested vomiting, jaundice and seizure
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CASE NO. 2
Baby Girl C was born via CS to a 34 year old
G1P0 mother who had placenta previa totalis.
Patient was born preterm at 32 weeks AOG and
had an AS of 6,7,8 BW= 1.9 kg . She was
ventilated with ET CPAP for a week , The course
of the NICU stay was uneventful and she was
discharged at 2 wks old. However, poor weight
gain and failure to thrive was noted at 1 year old
prompting the pediatrician to work up the patient.
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Newborn Screening: History
Started in 1961 in Oregon and Massachussets
Robert Guthrie developed a simple bacterial inhibition assay for phenylalanine
Test required only a small amount of whole blood soaked into filter paper
Additional tests for other metabolic disorders ensued galactosemia, MSUD and homocystinuria
PKU screening was present throughout the US, Canada, Europe Australia and Japan by the end of the decade
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Approximate Frequencies in the U.S. of
Disorders Included in Newborn Screening
Disorders Frequency
Congenital 1:4,000
Hypothyroidism
PKU 1:12,000
Galactosemia 1:60,000
CAH 1:19,000
Homocystinuria 1:200,000
MSUD 1:200,000
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Reasons for Newborn Screening
Babies with metabolic disorders usually appear normal at birth
Manifestation of metabolic disorders are vague
The effects of metabolic disorders are progressive and irreversible
Developmental effects of metabolic disorders are seriously debilitating
Metabolic disorders are non-infectious; they can affect babies even of the most careful of
parents
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Goals of Newborn Screening Program
Total participation of eligible population
Notification and education of all parents
Prompt and reliable laboratory testing
Rapid follow-up of positive tests
Accurate diagnosis of confirmed positive
cases
Appropriate treatment and counseling
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Phil. Newborn Screening Project
Initiated in June 1996
Aim: to come up with statistical data to
support the implementation of a screening
program on a nationwide scale
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HISTORY OF NEWBORN SCREENING IN THE PHILIPPINES 1996 PPS/POGS 24 accredited hospitals
Newborn Screening Group
Philippine Newborn Screening Project
1998 G6PD was added to the list of disorders. Homocystinuria was deleted
1999 the DOH included NBSP in the CHILD 2025 Program
2001 DOH created the National Technical Working Group for the nationwide implementation of NBSP
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Who to screen? All newborns
When to screen? - Ideally at third day of life
- after at least 24 hours of full feeding
How is newborn screening done? - Heel prick
- Filter paper card
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What disorders are being screened?
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Phenylketonuria
Galactosemia
Glucose 6 Phosphate Dehydrogenase Deficiency
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CONGENITAL
HYPOTHYROIDISM
A disorder affecting infants from birth, is due to the absence or deficiency of the thyroid hormone
Thyroid hormone is responsible for the normal function of certain body organs (bone, muscle, teeth, heart, bowels) and is essential for normal brain development.
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Causes of Congenital Hypothyroidism
1). Defective development of the thyroid gland
2). Development of the thyroid gland in an abnormal location
3). Maternal intake of anti-thyroid medication or excess iodine
4). Inherent defect in thyroid hormone production
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Diagnosis of Congenital Hypothyroidism
CLINICAL MANIFESTATIONS:
Most of the time, babies with CH appear
normal at birth. Clinical diagnosis occurs in
less than 5% of newborn because sign and
symptoms are often subtle and minimal and
non-specific
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Laboratory Diagnosis of CH
Newborn Screening
High TSH and T4 levels are confirmatory of CH
Thyroid scan
Bone age
TREATMENT of CH:
Thyroid hormone replacement (L-thyroxine 10-15 mg/kg)
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Congenital Hypothyroidism
Results from deficient production of thyroid hormone or a defect in its receptor
Thyroid hormone is essential to the growth of the brain and body
Most infants with CH are asymptomatic at birth
Early diagnosis and treatment of hypothyroidism in the newborn prevents mental retardation
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Congenital Hypothyroidism
Newborn screening programs are designed to
detect elevated serum TSH levels in blood.
Before the advent of screening, less than 1/3
of affected infants were diagnosed before 3
months of age and only by 6 months of age;
irreversible brain damage developed in most
of these infants
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Congenital Adrenal Hyperplasia
Caused by disorders of adrenal
steroid genesis leading to a deficiency of
cortisol
75% of affected infants have the salt-losing,
virilizing form
Treatment consists of steroid administration
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CONGENITAL ADRENAL HYPERPLASIA
The lack of cortisol is due to deficiency of certain
enzymes necessary for its production and this will
result to over production or under production of
other hormones like aldosterone and androgen
Aldosterone is the hormone responsible for
maintaining and controlling the amount of salt
such as sodium and potassium in the body
Androgen is the male hormone
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Types of CAH
1). 21-hydroxylase (90%)
2). 11-hydroxylase (5%)
3). 3-beta hydroxydehydrogenase and
isomerase
4). 20,22 desmolase
5). 17-hydroxylase
Salt-losers ( 80%) Non salt-losers (20%)
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Diagnosis of CAH
In girls:
- Abnormal sex organ
- Early appearance of pubic
& axillary hairs
- Excessive hairs
- Deep voice
- Failure to menstruate
- Abnormal menstrual
period
In boys:
- Enlarged penis
- Early increase in height
- Early appearance of pubic
& axillary hairs
- Early development of
masculine characteristics
- Small testes upon reaching
adolescence
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PHENYLKETONURIA
Inherited enzyme deficiency prevents the baby
from utilizing proteins properly
Phenylalanine excess disrupts normal
metabolism and causes brain damage
If not diagnosed and treated early, mental
retardation almost always occur
Treatment only involves a special diet
Normal development is possible with early
treatment
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What is Phenylketonuria?
Phenylketonuria or PKU is a condition
characterized by high serum levels of
phenylalanine and phenylketones in the
urine due to absence of the enzyme
phenylalanine hydroxylase.
PKU is an autosomal recessive disorder
due to defective gene locus on the q22-
q24.1 band region of chromosome 12
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Diagnosis of PKU
CLINICAL MANIFESTATIONS:
- impaired brain development
- musty body odor, eczema
- lighter skin and hair color (decreased
tyrosine levels)
- exaggerated DTRs, paraplegia,
hemiplegia
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Treatment of PKU
Diet consisting of low
phenylalanine and controlled
amounts of tyrosine and other
amino acids
Special milk formula
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Galactosemia
Babies with this disorder cannot metabolize
galactose
Accumulation of galactose in the body can
cause multiple problems brain damage,
cataracts, liver cirrhosis
Babies are treated by putting them on a
special galactose free diet
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What is Galactosemia? It is an autosomal recessive disorder
characterized by the bodys inability to use
galactose as a source of energy.
3 Enzyme deficiencies:
1). Galactokinase, which converts galactose to
galactose-1-phosphate
2). Uridine diphosphate (UDP) galactose-4-
epimerase
3). Galactose-1-phosphate uridyltransferase (GALT)
- responsible for hereditary or classical
galactosemia
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Signs & Symptoms of Galactosemia
- Hypoglycemia
- Irritability
- Vomiting
- Jaundice
- Diarrhea
- Liver enlargement
- Sepsis (E. Coli)
COMPLICATIONS:
- Cataract
- Learning disabilities
- Neurologic disorders
- Speech disorder
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WHAT IS G6PD?
What is G6PD ?
G6PD is a cytoplasmic enzyme
important in the production of NADPH in
cells which is required in various
biosynthetic pathways .
G6PD plays a key role in protecting
RBCs from oxidative stress, without it they
will be prone to hemolysis leading to
anemia and jaundice
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What Triggers the Symptoms of
G6PD Deficiency?
1. Ingestion of fava beans oand other type of
foods (tokwa, taho and soya-containing
food)
2. Infection hepatitis, pneumonia, typhoid
fever)
3. Intake of drugs - Primaquine
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Diagnosis of G6PD Deficiency
In babies: early appearance and persistence of jaundice
In older children and adults: symptoms of pallor, dizziness, headache, jaundice, tea-colored urine
Confirmatory Test: Assay Test for quantitative determination of G6PD using patients erythrocytes. A positive assay is a value of
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Flow Chart
OB explains Newborn Screening to mothers
Consents obtained by OB
NBS explained by the pediatrician if consent not yet secured
Newborn Screening done If discharged < 48 hours
on the 3rd day of Newborn Screening done at
1st check up
Filter card samples sent to NIH via FedEx
Samples are sorted
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Rejected samples Accepted samples NIH requests for repeat Laboratory runs in the samples sample collection Positive screen Negative screen NIH informs Hospital Results released to Coordinator coordinators AMD is informed Results are relayed to Pediatricians Patients recalled for confirmation tests
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Newborn Screening: Cost - Effective
Prevents mental retardation and even death
Saves on hospitalization costs incurred from
complications of metabolic disorders
Saves on costs for special education and
therapy if early treatment is missed
Saves children from a life of complete
dependence
Saves families from the frustrating and
heartbreaking task of caring for an affected
child
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Causes of Unsatisfactory Samples
1. Blood clots on surface
2. Incomplete saturation
3. Filter paper damaged
4. Blood layered on surface
5. Blood applied on both sides
6. Contamination
7. QNS to complete testing
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When to Collect Samples
Full term Infants
Collect sample before discharge from
hospital of birth. If initial sample was
collected before 24 hours of age obtain
repeat sample in about 14 days.
Home/out of hospital births
The birth attendant (physician, midwife, or
certified nurse) is responsible for
collecting a sample before one week of life
for out of hospital births.
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When to Collect Samples
Extended Hospital stays (Premature/Sick infants)
Collect sample by the seventh day of life unless a
transfusion is imminent. Hospital stays longer
than 14 days require a repeat screening at time
of discharge or at one month of age if hospital
stay is longer than one month
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When to Collect Samples
Transfused Infants
Collect initial sample before transfusion, if
possible.
If sample is collected before transfusion and
less than 24 hours of age, repeat testing at
30 and 60 days of life.
If initial sample was collected post-
transfusion, testing should be done at 6,30
and 60 days of life.
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When to Collect Samples
Transferred Infants
If transfer to another hospital is imminent,
collect sample before transfer, if at all
possible. Be sure to inform the transferring
hospital of collection status, including
whether or not the sample was collected,
age at time of collection, transfusion status,
etc.
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When to Collect Samples
Parent Refusal of Newborn Screening Testing
Parents may refuse newborn screening testing
of their baby ONLY on the grounds that it
conflicts with their religious tenets and
practices. Parents refusing under this
condition should sign a statement that is
placed in the infants medical record.
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Cost of Newborn Screening
Two Screening Packages:
1). Screening for 5 Disorders : P550.00
CH, CAH, GAL, PKU, G6PD
2). Screening for 2 Disorders only : P310.00
CH and CAH
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THANK
YOU !