Newborn Screening Chapters 1 and 2 Partially 3iii

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

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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.

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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)?

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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.

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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

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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.

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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.

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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.

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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

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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. 

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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

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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

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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.

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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

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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

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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

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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).

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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

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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

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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).

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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

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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

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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

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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

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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

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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.

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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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