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NBS Lecture For Participants
NBS Lecture For Participants
conditions.
INTRODUCTION ON NEWBORN SCREENING
NSF- refers to Newborn Screening Facility.
What is NBS?
Process of collecting a few drops of blood from the newborn
onto an appropriate collection card and performing biochemical
testing for determining if the newborn has a heritable
condition.
Rina Benjie
-7years old
-14 years old Is a public health program for the EARLY IDENTIFICATION of
-Normal growth
-Normal mentally
-Stunted growth disorders that can lead to mental retardation and death.
-Severely mentally retarded
-Newborn Screening DONE
-Newborn Screening NOT
at birth thus treatment was
done Program to screen for congenital and heritable disorders of ALL
started early
-Diagnosed to have
-Diagnosed to have Filipino newborns.
Congenital Hypothyroidism
Congenital Hypothyroidism
at the age of 12 years old
at first week of life In the Philippines, it is recognized as part of the standard
newborn care.
NBS in the Philippines
June 1996 - Phil. Newborn Screening Project initiated by a group NBS is part of the licensing and accreditation of DOH.
of Pediatricians and Obstetricians to determine local incidence of NBS is a requirement for PHIC accreditation.
CH, CAH, PKU, GAL, HCY NBS is part of the PHIC Newborn Care Package.
Definition of Terms
NIHP- facility refers to the National Institutes of Health,
Philippines.
Hemoglobinopathies
Amino Acid Metabolism Disorders
Organic Acid Metabolism Disorders
Fatty Acid Oxidation Disorders
Urea Cycle Defect
Other group of disorders
Function of G6PD
Enzyme needed for the protection of RBC from oxidative
substances.
X-Linked Recessive:
Primarily affects males - Inherited from the mother
Clinical Manifestations of PKU Females infrequently affected - Inherited from both parents
Vomiting, hyperactivity, seizures and hypertonia, musty or mousy
urine odor, light hair and skin color, seborrheic or eczematoid Clinical Manifestations of G6PD Def.
Most patients are asymptomatic if unexposed to oxidizing agents.
rash, mental retardation
Results from stress factors such as oxidative drugs or chemicals,
Late Manifestations of PKU infection, or ingestion of fava beans.
Acute hemolytic crisis:
Mental and growth retardation, microcephaly, enamel hypoplasia
Neonatal jaundice or kernicterus
Within 1 to 4 days of life
Poor Control of PKU Infection- or drug-induced hemolysis
Significantly lower scores on measures of IQ, attention and
reaction time, poor cognitive functions and the presence of How to confirm G6PD Def.?
behavioral difficulties Complete Blood Count to determine the level of anemia
Increased serum bilirubin
How to confirm PKU? Measurement of the actual enzyme activity of G6PD
Elevated serum Phenylalanine *Contact the nearest G6PD Center or G6PD Collecting Center
Low serum Tyrosine
Treatment & Management
Classic signs and symptoms
AVOID the following:
Gold Standard - Phenylalanine hydroxylase enzyme activity
Antibiotics: sulfonamides, sulfanilamide, sulfamethoxypyridazine,
Treatment & Management sulfacetamide, sulfadimidine, sulfapyridine, sulfamerazine, and
Low protein diet/Phenylalanine free milk/diet sulfamethoxazole, nitrofurantoin, nalidixic acid, ciprofloxacin
4 components of diet: niridazole, norfloxacin, chloramphenicol, phenazopyridine, and
1. Complete avoidance of food containing high Antimalarial: primaquine, chloroquine, pamaquine, pentaquine.
amounts of phenylalanine Substances: Acetanilid, Doxorubicin, Isobutyl nitrite, Naphthalene,
(High phenylalanine foods include soybeans, cheese, Phenylhydrazine, Pyridium, vitamin K analogs, methylene blue
nuts, seeds, beef, lamb, chicken, pork, fish, eggs, Miscelleneous: fava beans, legumes, bitter melon (ampalaya), tonic
dairy, beans, and whole grains) water, blueberry, menthol, camphor, herbs, gluten-free products,
2. Calculated intake of low protein/Phe natural food black or green tea and extracts of red wine, henna.
3. Sufficient intake of fat and carbohydrates to fulfil Oxygen and bedrest
the energy requirements of the patient Blood transfusion
Exchange transfusion
6. Maple Syrup Urine Disease (MSUD) 7. Thalassemias
Is a genetic metabolic disorder resulting from the defective Thalassemias are a group of blood disorders that affect the way
activity of the enzyme that breaks down branched-chain amino the body makes hemoglobin. Hemoglobin is a protein found in red
acids. Accumulation of the amino acids is toxic to the brain. The blood cells that carries oxygen throughout the body. It's made up
condition gets its name from the distinctive sweet odor of
of alpha globin and beta globin.
affected infants' urine. The by product of isoleucine has a
characteristic sweet smell which gives the disorder its name.
Thalassemias are inherited conditions — they're carried in the
genes and passed on from parents to children. People who are
Autosomal Recessive Inheritance
carriers of a thalassemia gene show no thalassemia symptoms
Figure 24.3 M.B., an 11-day-old infant with maple syrup and might not know they're carriers. If both parents are carriers,
urine disease. He is shown in the characteristic they can pass the disease to their kids. Thalassemias are not
opisthotonic position. (The illustration was kindly provided
by Dr. Havelock Thompson of University of West Virginia.) contagious.
Types:
4-5 days -> lethargy, opisthotonus, sterotypical movements How to confirm Thalassemia?
CBC with MCV
7-10 days -> coma and respiratory failure Hemoglobin Analysis (Capillary Electrophoresis)
DNA Analysis
How to confirm MSUD?
Increase leucine levels
8. Disorders of Organic Acid Metabolism
Treatment & Management
Relies heavily on dietary management What are organic acid disorders?
Isoleucine-Leucine-Valine free milk Body cannot metabolize certain amino acids and fats
Accumulation of organic acids in blood and urine
Treatment of Intercurrent Decompensations Serious potentially preventable effects on health and
Situations that may induce protein catabolism development, including death
Intercurrent infections
Immunizations Symptoms
Trauma acute encephalopathy, vomiting, seizures, failure to thrive,
Anesthesia and surgery hypotonia, global developmental delay, metabolic acidosis,
ketosis, hyperammonemia, hypoglycemia, coma, death
Treatment
Low protein diet, special milk formula, supplementation
(carnitine, glycine, Vit B12)
Symptoms
Decompensate with any catabolic stress, fever, fasting,
intercurrent illness, hypoketotic hypoglycemia, liver, muscle,
heart disease, lethargy, seizures, coma, sudden death (SIDS)
Treatment
A simple drop of blood Avoid prolonged fasting, low fat diet, some disorders require
carnitine supplementation
saves lives.
10. Disorders of Urea Cycle
RA 9288 Article 3 Sec. 7. Refusal to be Tested
What are urea cycle disorders? A parent or legal guardian may refuse testing on the grounds of
religious beliefs, but shall acknowledge in writing their
Caused by a deficiency of any enzyme in the urea cycle
understanding that refusal for testing places their newborn at risk
for mental retardation or death of undiagnosed heritable
Symptoms conditions.
hyperammonemia ,acute encephalopathy, vomiting, seizures,
global developmental delay, coma, death A copy of this refusal documentation shall be made part of the
newborn’s medical record and refusal shall be indicated in the
Treatment national NBS database.
Limit protein, provide insufficient amino acids (arginine), disposal
*Secure 2 duly signed copies
of ammonia
STEP 2. Collecting NBS Samples
11. Biotin Responsive Disorders
This refers to the taking of blood sample from the newborn to be
What are biotin responsive disorders? used for the laboratory test.
Due to defects in recycling of biotin or lack of biotin
RA 9288 Sec 7. Performance of NBS
NBS shall be performed immediately after twenty four (24) hours
Symptoms of life but not later than three (3) days from complete delivery of
Metabolic ketoacidosis, organic aciduria, mild hyperammonemia, the newborn.
seizures, hypotonia, ataxia, developmental delay, vision problems,
hearing loss, cutaneous abnormalities Protocol on Collecting NBS Samples of Preterm, Low Birth
Weight and Sick Infants
Treatment 28th Day of Life- and twenty-eight (28) completed days
and not just 27 days and a few hours.
Biotin supplementation
Preterm- < 37 completed weeks of gestation
Low Birth Weight- <2000 grams at birth
12. Carnitine Uptake Defects
Memorandum 2018-006 Clarification on Protocol for Preterm,
Defect in transport of carnitine (due to defect in sodium- Low Birth Weight and Sick Infants for Newborn Screening
dependednt organic cation transporter-1 enzyme) Sick
Can cause cardiomyopathy, liver complications, muscle
Any baby admitted to the Neonatal Intensive Care
weakness
Unit (NICU) and requires intensive care (i.e.
Illness or prolonged fasting can precipitate a metabolic intubated, CPAP, etc.)
crisis
Some babies have abnormal results because their The intensive care given to the baby may be due to
mothers have low free carnitine diagnosed/suspected illness and other
medical/surgical problems
Treatment:
Carnitine supplementation, avoid fasting **For babies who qualify the abovementioned definition of “sick”,
their DIAGNOSIS MUST BE WRITTEN AT THE BOTTOM PART OF
THE NBS FILTER CARD. If there is no diagnosis indicated on the
STEPS IN IMPLEMENTING NBS
filter card, the patient will be considered as NOT SICK.
Not Sick
Payment:
TERMS:
45 days- Non-Philhealth Accredited
60 days- Philhealth Accredited
MODES:
Walk-in or Bank Transfers
Where are the confirmatory centers? How much? PNB Account Number: 437600500039
Account Name: AUF Medical Center, Inc.
Please see separate sheet.
Sending of Samples to NSC-CL:
Who are the specialists? LBC, DHL, AIR 21, ABest, 2Go, Stat Delivery
Protocol:
Use the courier’s SMALL POUCH for NBS samples.
Answer all inquiries regarding contact details and
address.
Remember proper way of packaging samples.
The NBS Coordinator should personally secure the
samples in the pouch and fill in required information.
Fill-out the airway bill for shipper’s detail and NSC-CL is
the consignee. DO NOT FORGET TO WRITE THE ACCOUNT
NUMBER of NSC-CL and tick the box “BILL CONSIGNEE”.
Modes of Ordering:
Delivery:
COURIER REPORTING OF NBS PROGRAM
Allow 3-7 working days from receipt of PO or 10 working days if
facility is outside the service area of the courier. Use the recommended form for reporting.
Complete the details asked in the form for necessary updates.
*Note: Notify NSC if otherwise. Follow instructions written in the form.
Department of Health-CLCHD
Contact Persons: Divina Rae Bermudez, NBS Medical Coordinator
Madeline Gayle L. Tayag, NBS Nurse Coordinator
Jelly Anne C. Quinajon, NBS Nurse Coordinator
Contact Numbers:
0932-743-6736 – Ms. Tayag
0933-269-6354 – Ms. Quinajon
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