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INTRODUCTION
Dreams of possibilities could easily be shattered due to the presence of
illness. As Eda Le Shan once said, “A new baby is like the beginning of all things
– wonder, hope, a dream of possibilities.” According to the World Health
Organization (2012), 1 out of 33 infants (approximately 3.2 million) are born with
birth defects every year, and an estimated 270 000 newborns die during their first
28 days of life because of this.
This is one of the reasons why the Newborn Screening Program is being
pushed through and has been mandated in the Republic Act no. 9288, which is the
Newborn Screening Act of 2004. The Newborn Screening (NBS) includes
screening tests and different treatments; thus, sparing the child from heritable
conditions, serious health complications, or death if left undetected and untreated.
It then paves way to help children achieve a better and more convenient way of
living (R.A. no. 9288). It encompasses six parts: education, screening, follow-up,
diagnosis, management, and evaluation.
The state has set four objectives for the Newborn Screening Act, and these
are as follows: (1) To ensure that every newborn has access to newborn screening
for certain heritable conditions that can result in mental retardation; (2) To
establish and integrate a sustainable newborn screening system within the public
health delivery system; (3) To ensure that all health practitioners are aware of the
advantages of newborn screening and of their respective responsibilities in
offering newborns the opportunity to undergo newborn screening; and (4) To
ensure that parents recognize their responsibility in promoting their child’s right
1
to health and full development, within the context of responsible parenthood, by
protecting their child from preventable causes of disability and death through
newborn screening (RA 9288, 2004).
The United Nations praised the progress of the Philippines for the
improvement of the coverage of Newborn Screening as evidenced by records
taken from the Department of Health wherein 15.6% (234 000 out of 1.5 million
babies) in 2007 increased to 35% in 2010 to 42% in 2011 (Legarda, 2009). While
this is indeed a positive development, there is still a huge difference from what is
expected of the approved law which indicates that all babies must be subjected to
Newborn Screening, unless guardians refuse on the grounds of religious beliefs;
therefore, the government needs all the help and support that it could get in order
to save children from needless and preventable death (Legarda, 2012).
In order to help achieve our health system’s advocacy of promoting health,
the researchers chose this study to help evaluate the Newborn Screening program
and be able to gather reliable information that could reflect its effectiveness. It
may also conclude whether the implementation needs improvement and
reinforcement by the government and healthcare practitioners. It will also
emphasize the importance of the program for the development and wellness of
children in the future.
2
Statement of the Problem
This study aims to answer the following questions:
1. What is the level of accessibility of patients to Newborn Screening System?
2. What are the existing manpower, budget, facilities, management, and policies
for Newborn Screening?
3. What is the level of awareness of health practitioners on the advantages and
their responsibilities in the implementation of Newborn Screening?
4. What are the actions being performed by parents in promoting their child’s
wellness in terms of subjecting children to Newborn Screening?
5. How many infants underwent Newborn Screening versus the number of infants
born from 2007-2012?
How many infants:
a. Obtained positive results in Newborn Screening for:
Congenital Adrenal Hyperplasia
Congenital Hypothyroidism
Galactosemia
Glucose 6 – Phosphate Dehydrogenase Deficiency
Maple Syrup Urine Disease
Phenylketonuria
b. Received proper management?
c. Died?
d. Obtained false negative results
d.1. What happened to the child (with illness or dead)?
3
d.2. Did the child receive proper treatment afterwards?
6. What are the difficulties encountered by the health practitioner and the parents
on the conduct of Newborn Screening?
7. Are there differences on the process of Newborn Screening undertaken
between:
a. old and new facilities
b. public and private
c. primary and secondary hospitals
Objectives of the Study
The study generally aims to evaluate the Newborn Screening Program
specifically the processes undertaken in conducting the test in order to determine
whether the implementation needs improvement and reinforcement by the
government and healthcare practitioners as well as to let parents appreciate the
importance of Newborn Screening to their children.
Specifically, it aims to:
1. Determine the level of accessibility of patients to Newborn Screening System.
2. Describe the existing manpower, budget, facilities, management, and policies
for Newborn Screening.
3. Determine the level of awareness of health practitioners on the advantages and
their responsibilities in the implementation of Newborn Screening.
4. Determine the actions being performed by parents in promoting their child’s
wellness in terms of subjecting children to Newborn Screening.
4
5. Determine the number of infants who underwent Newborn Screening versus the
number of infants born from 2007-2012.
How many infants:
a. Obtained positive results in Newborn Screening for:
Congenital Adrenal Hyperplasia
Congenital Hypothyroidism
Galactosemia
Glucose 6 – Phosphate Dehydrogenase Deficiency
Maple Syrup Urine Disease
Phenylketonuria
b. Received proper management?
c. Died?
d. Obtained false negative results
d.1. What happened to the child (with illness or dead)?
d.2. Did the child receive proper treatment afterwards?
6. Determine the difficulties encountered by the health practitioner and the parents
on the conduct of Newborn Screening.
7. Determine if there are differences on the process of Newborn Screening
undertaken between:
a. old and new facilities
b. public and private
c. primary and secondary hospitals
5
Assumptions
1. All infants have easy access to Newborn Screening.
2. There is sufficient manpower, budget, and facilities as well as appropriate
management and policies for the conduct of Newborn Screening.
3. The health practitioners are very much aware of the advantages and their
responsibilities regarding Newborn Screening.
4. Parents aim to promote their child’s health and wellbeing; thus, they subject
their children to programs such as Newborn Screening
5. All infants except for those with religious issues were subjected to Newborn
Screening as imposed by the law
6. Infants with positive results were given proper management in accordance
with their disease.
7. The Newborn Screening Test detected congenital abnormalities which helped
prevent complications and death of children.
Hypotheses
Ho1: There are no difficulties encountered by health practitioners and parents
on the conduct of newborn Screening
Ho2: There are no differences on the process of Newborn Screening
undertaken between old and new facilities; public and private facilities; and
primary and secondary hospitals.
6
Significance of the Study
The study will benefit the following:
Mothers. Mothers will be able to grasp how important it is to subject their infants
to Newborn Screening in order to detect congenital defects and be able to provide
a better and healthier life for their children. This would help them take active
participation in promoting the wellness of their child and in the implementation of
the Newborn Screening Act within their family and community.
Community. The results of the study are not limited to mothers only. Even
people within the community could help in the implementation about Newborn
Screening to help spread awareness and compliance; thus, helping prevent
increase child mortality and child morbidity rate. It would also help develop their
sense of communal work in achieving a better quality of life for children in the
future.
Healthcare Professionals. The study may help determine whether the
implementation needs improvement and reinforcement by the government and
healthcare professionals.
Government. The study could help in the evaluation of the program and
determine the efficacy of its implementation. It provides ways on how to modify
the promotion of health among the people and help in establishing the law more
firmly. It would help in monitoring the progress and achievement of the goal
regarding its performance and effective policies.
7
Students. The study will help improve evaluation skills especially in gauging the
effectiveness of a program. It would also enlighten them on their need to take part
in disseminating information and promoting health and wellness.
Researchers. Researchers also learn extensively during the whole research
process. The knowledge is advantageous in the improvement of the efficacy and
competency in performing and facilitating Newborn Screening as future health
providers. Not only will their knowledge increase, but their moral, attitude, and
characteristics are also being honed as they undergo this tedious but fun task of
researching.
Future Researchers. This study may be used by future researchers as inspiration
and as a reference.
Scope and Limitation
The respondents of the study would be Newborn Screening Centers in
Cavite which were established before 2013 and are still active today. Selected
mothers who delivered their child in those facilities would also be taken as
respondents. The records that we will be getting are limited within the calendar
years 2007-2012.
Definitions of Terms
Congenital Adrenal Hyperplasia – an endocrine disorder that causes severe salt
loss, dehydration, and abnormally high levels of male sex hormones.
8
Congenital Hypothyroidism – this is a lack of thyroid hormone, which your
baby needs to grow.
Effectiveness – being able to produce expected and satisfying results or outcome
Evaluation – assessment of the objectives and satisfaction of a program
False-negative – results which have been released as negative but were actually
positive
Galactosemia – a condition in which babies cannot process the sugar present in
milk (galactose). This leads to increased galactose levels in the body, which leads
to liver and brain damage.
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – condition where the
body lacks the enzyme called G6PD. The deficiency may cause hemolytic
anemia, when the body is exposed to oxidative substances found in certain drugs,
food and chemicals
NBS – Newborn Screening
Negative Screen – means that the result of the test indicates extremely low risk of
having any of the disorders being screened.
Newborn – a baby from birth to four weeks
Newborn Screening Test – means the 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.
New Facilities – are facilities that were established five years ago or from 2008-
2013 and are still active until today
9
Old Facilities – facilities that were established more than five years ago, below
2007, and are still active until today.
Phenylketonuria – is a condition where the body does not properly use the
enzyme phenylalanine, which may lead to brain damage.
Positive Screen – means that the baby is at increased risk of having one of the
disorders being screened.
10
Conceptual Framework
Interpretation:
The diagram above shows the conceptual framework of our study. It is
based on the four objectives determined by the law which includes: Accessibility,
Sustainability, Health Practitioners, and Parents. Accessibility includes Service,
Cost, Availability, as well as data about deliveries and Newborn Screening
participants. Sustainability encompasses Manpower, Budget, Facilities,
Management, and Policies. The level of awareness on the advantages and
responsibilities as well as professional development for health practitioners
regarding Newborn Screening Test will be determined. And the responsibility of
11
Newborn Screening Test
Accessibility
Service Cost Availability Data
Health Practitioners
Level of awareness: Advantages Responsibilities
Professional development
Sustainability
Manpower Budget Facilities Management Policies
Parents
Child’s health promotion through Newborn Screening Test
parents in promoting their child’s wellness through Newborn Screening is the
fourth component.
Theoretical Framework
Process evaluation examines how a program is implemented, monitors the
performance of a program, reviews the program to ensure that it is following
required legal and ethical guidelines, and identifies defects in the procedural
design or in the implementation of the program. This type of evaluation allows
evaluators to gather information about what is actually occurring in the program.
Evaluators typically provide this kind of feedback to program personnel because
it can be helpful in making formative evaluation decisions.
Formative evaluation is generally any evaluation that takes place before or
during a project’s implementation with the aim of improving the project’s design
and performance. Formative evaluation complements summative evaluation and
is essential for trying to understand why a program works or doesn’t, and what
other factors – either internal or external – are at work during a project’s life
(evaluationtoolbox.net, 2010).
Categories of formative evaluation
Proactive Clarificative Interactive Monitoring When Pre-project Project
developmentProject implementation
Project implementation
Why To understand or clarify the need for the project
To make clear the theory of change that the project is based on
To improve the project’s design (continual improvement) as it is rolled out
To ensure that the project activities are being delivered efficiently and effectively
12
Examples Literature Review
Stakeholder Analysis
Problem / Solution tree analysis
Logframe Matrix
Program Logic
Semi-structured Interview
Focus Group / ORID
Project Diary
Budget tracking
Time tracking
Questionnaire
Dartboard
Observation
In connection to our study, this type of evaluation process would help us
assess Newborn Screening Test as an ongoing program in order to consider
feedbacks and improvements.
13
CHAPTER II
REVIEW OF RELATED LITERATURE
Republic Act 9288
The republic act 9288 or the Newborn screening act of 2004 that was
approved last April 7, 2004 is a Philippine law which ensures a comprehensive
policy and a national system for Newborn Screening Test. It is a policy of the
state to protect and promote the right to health of the people, including the rights
of children to survival and to a full and healthy development as normal
individuals. It ensures that every baby born in the Philippines is offered the
opportunity to undergo newborn screening and thus be spared from heritable
conditions which could lead to mental retardation and death if undetected and
untreated. It involves the collaboration among government and non-government
agencies at the national and local levels, the private sector, families and
communities, professional health organizations, academic institutions, and non-
governmental organizations. The objectives of the National Newborn Screening
System are the following: (1) To ensure that every newborn has access to
newborn screening for certain heritable conditions that can result in mental
retardation; (2) To establish and integrate a sustainable newborn screening system
within the public health delivery system; (3) To ensure that all health practitioners
are aware of the advantages of newborn screening and of their respective
responsibilities in offering newborns the opportunity to undergo newborn
14
screening; and (4) To ensure that parents recognize their responsibility in
promoting their child’s right to health and full development, within the context of
responsible parenthood, by protecting their child from preventable causes of
disability and death through newborn screening (RA 9288, 2004).
Newborn Screening Test
The newborn screening test is a universally accepted preventive program
which is essential for the early identification of very rare disorders that threatens
not only the life but also the development of the newborn. Babies born with
congenital disorders may appear healthy at birth, and these disorders may go
undetected until symptoms manifest later on at life. These illnesses could be
serious congenital developmental, genetic, and metabolic disorders and once
necessary actions are not undertaken early, the long-term health of the child may
be affected. It could lead to mental retardation or worse, death if left untreated
(Morrow C., et al, 2010).
The procedure encompasses sample collection, laboratory testing, follow-
up, diagnosis, treatment of identified disease, and evaluation of outcomes (Sielski
M.D., 2012).
With the help of early detection, diagnosis, and treatment or management
of these conditions, there would be a significant decrease in the occurrence of
these diseases and its associated disabilities and even death in affected patients. It
gives newborns the chance to live a normal life by providing opportunities of
15
early treatment before the disease becomes symptomatic (National Newborn
Screening and Global Resource Center, 2013).
In the Republic Act 9288 Article 2 Section 4, Newborn Screening is
defined as a process wherein drops of blood from the newborn is obtained and
collected in a card in order to execute biochemical testing to identify possible
heritable conditions present in the child.
Newborn Screening Test was first developed by Dr. Robert Guthrie. It was
in 1962 when he first tried to come up with a simple and inexpensive yet effective
screening test for hyperphenylalaninemia. This procedure tests dried blood on
filter paper wherein phenylalanine inhibits bacterial growth. Even before this
assay of Guthrie’s, there was already an available ferric chloride test in detecting
phenylalanine on wet diapers. Early identification of hyperphenylalaninemia on
infants gave way to the early management of this condition wherein affected
individuals were treated with a low-phenylalanine diet. Dr. Guthrie was able to
discover that infants who were identified and treated early from the disorder had
normal cognitive development compared to infants who were not able to receive
early treatment since instead from being normal, they developed severe mental
retardation (Bryant, et al, 2004).
In the mid-1960s, the first universal screening program was implemented
in Massachusetts soon after Dr. Guthrie’s discovery. The program only screened
one disorder, which was hyperphenylalaninemia. Soon thereafter, newborn
hyperphenylalaninemia screening became available nationwide. From one
disorder screened, there were now technological advancements leading to the
16
increase in the number of disorders that were available for screening. There are
now several states like North Dakota and Iowa that screens for 40 disorders; thus,
offering the most comprehensive newborn screening programs. The disorders
included in newborn screening may consist of IBEM, hemoglobinopathies,
endocrine disorders, infectious disease, and other inherited disorders, such as
cystic fibrosis. There is however an extensive variation in disorders screened from
state to state (Bryant, et al, 2004).
Importance of Evaluation
It is important to periodically assess and adapt your activities to ensure
they are as effective as they can be. Evaluation can help you identify areas for
improvement and ultimately help you realize your goals more efficiently.
Additionally, when you share your results about what was more and less effective,
you help advance environmental education (Thomson and Hoffman, 2003).
Evaluations fall into one of two broad categories: formative and
summative. Formative evaluations are conducted during program development
and implementation and are useful if you want direction on how to best achieve
your goals or improve your program. Summative evaluations should be completed
once your programs are well established and will tell you to what extent the
program is achieving its goals (Rossi et al., 2004).
Update these documents on a regular basis, adding new strategies,
changing unsuccessful strategies, revising relationships in the model, and adding
unforeseen impacts of an activity (EMI, 2004).
17
Program evaluation, conducted on a regular basis, can greatly improve the
management and effectiveness of your organization and its programs. To do so
requires understanding the differences between monitoring and evaluation,
making evaluation an integral part of regular program planning and
implementation, and collecting the different types of information needed by
managers at different levels of the organization (Martinez, 2005).
Public and private-sector agencies and organizations often include
evaluation as an important component of their programmatic initiatives. But what
is program evaluation and why is it important? Evaluation is the application of
defensible criteria to determine the merit or worth of programs. Program
evaluation involves the systematic collection of information about a program, or
some aspect(s) of a program to reach conclusions about service delivery or
effectiveness. The purposes of program evaluation may include 1) judgment of
merit or worth; 2) oversight and compliance; 3) program and organizational
improvement; or 4) knowledge development (Fitzpatrick, et al, 2003).
Evaluation is an important component of NBS quality assurance. It is
necessary to know if the component parts of the NBS system are functioning
properly and if the goals of early detection and medical management are
achieving the proper outcomes (medscape.com, 2007).
The evaluation of a newborn for an abnormal screening result was highly
stressful for parents. To help reduce parents' distress, improvements in
communications and clinical services are needed. Recommendations of useful
Internet sites and discussions of this information may benefit parents. Tailoring
18
counseling to meet the needs of culturally and educationally diverse families is
needed. Families and infants with equivocal results are a new group of patients
who merit comprehensive clinical follow-up (American Academy of Pediatrics,
2011)
Program evaluation is essential to a well-performing public health
program, yet has often been misunderstood. As a valuable tool for community-
based organizations who want to strengthen the quality of existing programs,
program evaluation can lead to improved outcomes for the populations served.
The type of evaluation you undertake depends on what you want to learn and
provide to communities. Start your program evaluation by identifying what you
need to know to make necessary program decisions and how you can accurately
collect and understand that information (Centers for Disease Control and
Prevention, 2011).
Effective program evaluation does more than collect, analyze and provide
data. It makes it possible for program managers to gather and use information in
order to learn continuously about the surveillance system and to improve its
functions and outcomes. Routine evaluation offers learning opportunities,
improved documentation, and shared understanding about what works within the
system and why. Program evaluation is critical for program managers to ensure
that resources dedicated to surveillance functions have been allocated in the most
efficient and effective manner. (1) Obtaining feedback about the overall operation
of the surveillance system and sharing these analyses with other system partners is
the most effective means of ensuring targeted surveillance efforts as well as
19
improving ongoing communication among the system’s members (MMWR Morb
Mortal Weekly Rep, 2001).
Newborn Screening Process
Newborn screening is important and it is done in 24 to 48 hours after a
baby is born. It has 29 diseases are screened for at birth. At the same time as
metabolic disorders are rare, the universal process for screening is not. In the
course of educating pregnant mothers about newborn screening as a nurse we
lessen their worries concerning initial positive test results and also make sure they
act rapidly in re-testing their new baby (Lloyd-Puryear, et al., 2006).
In follow-up testing the pediatrician notifies mothers if their baby needs
follow-up testing, an immediate recommendation to a metabolic clinic, or an
emergency room visit. This does not automatically mean that the newborn is at
risk. Abnormal results are often due to special circumstances like premature birth,
a blood sample taken incorrectly, or a transient finding. On the other hand, timely
follow-up is important because abnormal results can indicate a metabolic disease
or disorder (Johnson, et al, 2006).
In false-positive result the majority of repeat tests will not indicate a
metabolic disorder. The infant’s pediatrician will be informed by the newborn
screening program of the follow-up test results. The pediatrician should then
contact the mothers directly with the results. Mothers should be encouraged to
contact their doctor if they are not informed of the results soon after the test is
performed (National Newborn Screening and Genetics Resource Center, 2006).
20
In positive result if follow-up testing indicates a true positive then the
mothers will be referred to a metabolic specialist. The metabolic specialist will
then do additional laboratory and/or genetic tests to verify the diagnosis. Through
this, infants will be given treatment and mothers will gain knowledge about the
care plan to avoid the consequences of an untreated metabolic disorder (Save
Babies Organization, 2006).
In the process of heel brick, one needs to talk to the maternal caregiver.
Parents and guardian can request that leftover blood spots are returned after
screening is finished. Stored sample can be used in special circumstances only.
Blood sample collected and sent to the laboratory for testing. Sample should be
taken as soon as possible after is 48 hours old and before 72 hours. Sample should
be dried and sent to the laboratory on the same day as the sample is taken. If the
result is negative nothing more is necessary. If the result is positive, the baby will
need another sample on a blood spot card, addition testing or both. They may also
be referred to pediatrician/metabolic specialist. The additional tests the baby will
need depend on the condition suspected after the screening. If the result is
negative, when the screening is finished leftover blood spots are either stored or
sent back as arranged. When the result is positive a condition has been identified.
The pediatrician and/or metabolic specialist and/or their teams will give the
information about the condition identified (Save Babies Organization, 2006).
Results of the screening are sent to the hospital or clinic where the sample
was collected. Ask your doctor any questions you may have concerning the
results or the newborn screening process. If your child’s initial screening was
21
unclear or abnormal the newborn screening may need to be repeated. If necessary,
it is important to make sure that this test is repeated as soon as possible. Your
baby’s doctor will talk with you about what steps need to be taken
(Genetics/Newborn Screening Program, 2006).
Disease Detected by Newborn Screening in the Philippines
Congenital adrenal hyperplasia this is endocrine disorder that causes
severe salt loss, dehydration of high levels of male sex hormones in both boys and
girls. If not treated, babies may die within 7-14 days (Harrow, CM, 2011).
Phenylketonuria it is rare, in recognizing phenylketonuria right away can
help prevent serious health problems. Babies with phenylketonuria (PKU) —need
to follow a diet that limits phenylalanine, which is found mostly in high-protein
foods (Mayo clinic staff, 2009).
Glucose 6- phospate dehydrogenase deficiency this is the enzyme
deficiency in humans. According to (Baby Center, 2011) approximate 400 million
people around the world are affected. In the Philippines, around 1 in 50 children
are G6PD deficient. The G6PD deficiency is more common in boys than in girls.
There is no known cure for G6PD deficiency. It is a lifelong condition that cannot
be outgrown. However, a child with G6PD deficiency can live an active, healthy
and normal life as long as he is able to avoid the substances that can trigger G6PD
deficiency symptoms (Baby Center, 2011).
Congenital hypothyroidism this is the lack of thyroid hormones necessary
for the mental and in physical development also of a child. If it is not treated at an
22
early stage of a child or within two weeks, the baby may undergo from growth
and mental retardation. And the method that used in stimulating hormones is
called immunoflourescent (Harrow 2011).
Galactosemia it is one of the disorders that which is a child are not capable
to process galactose. Galactose is the sugar that present in milk. Too much
galactose in the body can cause problems include liver and brain damage and
cataract if it is not treated (Harrow 2011).
To determine the incidence of galactosemia in the Philippines and to find
out whether newborn screening for galactosemia is cost-beneficial from a societal
perspective, cost-benefit analysis was performed. Newborn screening for
galactosemia was finished after the 24th hour of life using the Beutler test on the
other hand it is ideally done on the 48-72 hours after birth to discover all the
metabolic conditions/disorders (Padilla et.al, 2003).
Management of the Diseases Detected
Congenital Adrenal Hyperplasia
For medical management, the child will be prescribed with replacement
hormones to boost the levels of deficient hormones and reestablish them to
normal levels. Example is hydrocortisone or dexamethasone to replace cortisol
and fludrocortisone to substitute aldosterone. For girls, a careful balance of the
correct amount of cortisone medications is needed to suppress androgens; thus,
leading to normal height and reduction of masculine characteristics. These long-
term use of steroids may cause side effects so the child is monitored for loss of
23
bone mass and impaired growth. Regular blood tests are also ordered to see if the
doses need to be adjusted. As for the surgical aspect, female infants with
indistinct presentation of external genitalia are recommended for reconstructive
surgery to correct the appearance and function of the genitals. It is typically
performed between two and six months of age. The procedure may entail
reduction of the size of the clitoris and reconstruction of the vaginal opening
(Blah blah, daksol).
Congenital Hypothyroidism
Congenital Hypothyroidism (CH) could result to mental retardation unless
treatment is started within two weeks after the child is delivered, since cognitive
outcomes depend on the timing and adequacy treatment rendered. It begins with
thyroid therapy wherein attainment of normal level of thyroid hormone as soon as
possible is targeted. While there is ongoing therapy, the child must be subjected to
follow-up check-ups for laboratory and clinical testing to ensure optimal dosing
and compliance to therapy (Smith, 2007).
Galactosemia
Galactosemia is an inherited condition wherein the body is unable to
metabolize galactose. Galactose is composed of half lactose – milk sugar, and half
glucose. Since the body cannot break down galactose, these substances
accumulate in the infant’s body whenever they are given milk; thus, damaging the
liver, kidney, brain, and eyes. People with this disorder cannot tolerate any form
of milk, either human or animal. They are managed through immediate dietary
intervention by avoiding all milk, milk-containing products, and other foods that
24
contain galactose for life. Infants can de fed with soy formula, meat-based
formula or nutramigen, and other lactose-free formula. Calcium supplements are
also recommended. If infants ingest lactose-containing food, symptoms may
appear in the first few days of life. So it is important that they get an early
diagnosis in order to strictly avoid milk products and be able to live a moderately
normal life. But no matter how much a person avoids milk, mild intellectual
impairment may still develop (Berry, et al, 2006).
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD deficiency)
G6PD deficiency is a condition where the body lacks the enzyme called
G6PD. The deficiency may cause hemolytic anemia, when the body is exposed to
oxidative substances found in certain drugs, food and chemicals. Mainly, the
treatment for this disorder is to avoid oxidative stressors (Frank, 2005).
Maple Syrup Urine Disease
Maple Syrup Urine Disease is a metabolism disorder wherein the body
cannot break down parts of protein, specifically leucine, isoleucine, and valine,
resulting to accumulation of these chemicals in the blood; thus, urine that smells
like maple syrup. Its most severe form could damage the brain if a person is
subjected to physical stressors such as infection, fever, or not eating for a long
time, while its mildest forms could already cause intellectual disability and high
levels of leucine through repeated exposure to physical stress. The treatment
involves eating a protein-free diet. Fluids, sugars, and fats are given through an
intravenous route. There is also a special diet free of branched-chain amino acids
which is started when amino acid levels are normal. The health care provider
25
would then monitor the levels closely and will make adjustments based on the
amino acid levels. Long term treatment includes a special diet as well wherein
the baby is given artificial formula with low levels of leucine, isoleucine, and
valine. Following this diet prevents damage to the nervous system; therefore,
frequent blood tests and close supervision by a dietician and physician are
necessary, alongside with the parents’ cooperation (Wendel and Ogier de Baulny,
2006).
Phenylketonuria
Phenylketonuria is a disorder wherein the body lacks an enzyme –
Phenylalanine hydroxylase (PAH) – to metabolize amino acid. It results in
increased levels of phenylalanine (Phe) in the body resulting to mental
retardation, microcephaly, seizures, eczema, behavior abnormalities, and
neurotoxicity. Treatment includes management of phenylalanine levels to avoid
brain damage while still being able to maintain appropriate nutrient intake. The
diet contains restriction (not total elimination) of Phenylalanine and
supplementation of other essential amino acids, vitamins, minerals, and energy
intake in order to regulate and keep Phenylalanine levels at the targeted range as
well as to provide the body with necessary nutrients and to maintain normal
growth and development. Aspartame, which is found in many artificially
sweetened foods and soft drinks and some vitamins and medicines, must be
eliminated. Breastfeeding is usually possible and should not be stopped unless
instructed. All high-protein foods such as meat, dairy, nuts, and legumes must be
eliminated, while starches like bread, potatoes, corn, and beans are restricted.
26
Mostly, what is allowed for people with Phe are low-protein foods like pastas and
breads especially made with low-protein (Merck, 2009).
Roles of Facilities and Agencies in Newborn Screening
The success of the Newborn Screening Program depends upon the
coordinated efforts of many health care professionals, Medical Home and/or other
Healthcare Professionals are generally responsible for ordering the screening tests
for newborn infants in their care, informing parents about the screening tests, and
collection and handling of newborn screening specimens. Practitioners, and/or
their contracted laboratories, may collect and send specimens for testing.
Practitioners, hospitals and laboratories work together to coordinate timely
collection and rapid delivery of acceptable newborn screening specimens
(Sebelius, 2012).
Filipinos may still be lacking the information they need to know on the
benefits of newborn screening, so the primary care physicians, including other
health and education professionals and organizations, third party players and
managed care organizations, and related commercial industries, are called upon to
boost the information campaign on newborn screening so as to realize a wider
coverage of the mandatory testing on infants (Ubac, 2009).
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Synthesis
Newborn Screening Program is definitely an indispensable procedure
which could help save and improve the quality of life of newborns. It has been
passed as a law to comply upon in helping reduce morbidity and mortality of
children; thus, enforcing and promoting a healthier and better way of living. The
management done per disease detected ensures that every child is given a chance
to live normally and better than if their diseases were not detected at birth.
State newborn screening systems have a responsibility to review the
appropriateness of existing tests, tests for additional conditions, and new
screening technology and modalities. Public health agencies, working under
legislative authority, have the ongoing responsibility to ensure quality and
evaluate program effort.
Public health may require taking a greater role in implementation of the
program. Public health agencies might play a role in financing for these rare but
potentially costly activities. Collaboration and leadership across the participating
clinical and public health entities will be needed to effectively implement the said
program. Virtually all parents support newborn screening for conditions requiring
early treatment. The support for screening for untreatable conditions may result in
part from idealistic expectations of early diagnosis to improve outcomes, even in
the absence of a treatment.
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CHAPTER III
METHODOLOGY
Research Design
The design of our research is non-experimental – evaluative research and
the instrument to be used for data gathering would be questionnaires.
Salustiano (2009) stated that Evaluative research is utilized for testing the
quality, effectiveness, and efficiency of products, treatments, procedures, or
methods. Our study would specifically evaluate the procedure or the processes
undertaken on the conduction of Newborn Screening test.
Sampling Procedure
We will be using systematic sampling in selecting the facilities that we are
going to choose as respondents. The facility which appears every 5th in the
alphabetical list of active facilities will be picked out, while for the parents who
will be chosen, we will be using selective sampling as well wherein the patient on
every 5th entry of the record will be the respondent.
Time and Place of the Study
The gathering of data would be conducted from July to September 2013.
The place would be within Cavite area and the facilities which will be chosen
from the sampling method.
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Research Instrument
The instrument that will be used in this study is a close-ended type of
questionnaire.
The first part of the questionnaire consists of questions for the parents.
There are 19 questions regarding the Newborn Screening System’s accessibility,
sustainability, awareness, and responsibility. We will be utilizing the Likert’s
scale to determine the level of their answer where:
5 – highly agree
4 – agree
3 – neutral
2 – disagree
1 – highly disagree
The second part consists of questions for the healthcare provider. They
will be given a questionnaire regarding the Newborn Screening’s sustainability
based on their perception. There would also be an exam to gauge the level of
awareness which has 20 items and will be scored accordingly:
0-3 – very low
4-8 – low
9-12 – average
13-17 – high
18-20 – very high
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The third part consists of a checklist to determine what problems were
encountered by both the healthcare provider and the parents in the conduct of
Newborn Screening test.
Data Gathering Procedure
The questionnaires would be given to the facilities and to their respective
clients who will be chosen from a list. We would also be profiling records to
obtain data regarding Newborn Screening. The study will be conducted from July
to September 2013; thus, giving the researchers two months to conduct the
survey. Analysis and evaluation of the answers would be performed once data is
complete.
Testing for the Validity
We will be checking the standard procedure on Newborn Screening Test
of each facility and compare it with the standard procedure set by the Newborn
Reference Screening Center of Cavite. We will also be gathering information
from mothers to confirm whether their answers are congruent with the answers of
the healthcare providers. Given the chance, we would also be directly observing
how Newborn Screening Test is actually done in the facilities.
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