NBS Abstract

19th Newborn Screening Convention
Newborn Screening Society of the Philippines, Inc.
In cooperation with the Newborn Screening Reference Center
Book of Abstracts Newborn Screening Society of the Philippines Inc

Towards a SMART
Expanded Newborn Screening Program
SCIENTIFIC PROGRAM
October 5 Pre Convention
To educate about the Basics of Newborn Screening
October 6 – 7 Main Convention

To enhance ENBS in its role in lowering the infant mortality and morbidity rates
and improving the quality of life of the Filipino children
To educate our NBS partners on digitalization as a smart move to effectively

sustain our newborn screening program nationwide.
To keep our best practices and yet move forward to sustain our newborn
screening roadmap.
Newborn Screening Society of the Philippines Inc

8:00am-8:45am Admission of Participants
8:45am-9:00am Welcome Remarks and Introduction to Dr. Rizalina Racquel Gonzalez

the course President
Newborn Screening Society of the Philippines, Inc. (NSSPI)
9:00am-9:30am The Philippine Newborn Screening Dr. Sylvia C. Estrada

Program National Coordinator -Short-Term Follow-Up
Newborn Screening Reference Center
9:30am-10:00am Overview of the ENBS Disorders Dr. Maria Paz Virginia K. Otayza
Head
SCIENTIFIC PROGRAM
Newborn Screening Center-Northern Luzon
10:00am-10:10am Proper DBS Collection Dr. Bernadette C. Halili-Mendoza

PRE-CONVENTION Head
BASIC OF ENBS Newborn Screening Center-Central Luzon
10:10am-10:20am Timeliness of NBS Dr. Alma M. Panganiban-Andal

October 5, 2021 Head
Newborn Screening Center-Southern Luzon
Moderator: Dr Lulu Malabuyoc
10:20am-10:30am Short-Term and Long-Term Follow-Up Dr. Anna Lea G. Elizaga
Head
Newborn Screening Center-National Institutes of Health
10:30am-11:00am Open Forum

8:30am-9: 00am Opening Ceremonies

Prayer and National Anthem
Welcome Remarks Dr. Rizalina Racquel Gonzalez

President
SCIENTIFIC PROGRAM Opening Remarks Dr. Noel R. Juban

Director
MAIN CONVENTION PROPER Newborn Screening Reference Center, NIH
Towards a Smart Expanded Newborn Introduction of Keynote Speaker Dr. Imelda Olivarez-Orteza
Screening Program
9:00am-9:25am Keynote Address: Dr. Maria Rosario S. Vergeire, MPH, CESO IV
ENBS Roadmap to 2030 Undersecretary
Plenary 1 & 2 Department of Health
9:25am-9:30 am Overview of the Program Dr. Ebner Bon G. Maceda

October 6, 2021 Head
Scientific Committee
Moderator: Dr J Edgar Winston Posecion
9:30am-9:50am PLENARY 1: Towards a Smart ENBS Dr. Carmencita D. Padilla
Program Newborn Screening Consultant
Professor and Chancellor
University of the Philippines Manila
9:50am-10:10am PLENARY 2: The Value of Disease Ms. Ma. Elouisa Reyes

Mapping: What is this all about? Head, Program Support Unit
Newborn Screening Reference Center, NIH
10:20am-10:40am PLENARY 3: From the Core to the Dr. Leniza de Castro-Hamoy

Grassroots: Center for Human Genetics Head, Center for Human Genetics Services
Services and its link with the Continuity Institute of Human Genetics, NIH
Clinics

10:20am-10:40am PLENARY 3: From the Core to the Dr. Leniza de Castro-Hamoy
Grassroots: Center for Human Genetics Head, Center for Human Genetics Services
Services and its link with the Continuity Institute of Human Genetics, NIH
Clinics
10:40am-11:00am PLENARY 4: The Essential Linkages:
Newborn Screening Continuity Clinics -
Linking the provinces through Satellite
Clinics
A. Establishment Dr. Renilyn Reyes
SCIENTIFIC PROGRAM NBS Program Manager
Center for Health Development Region VI
MAIN CONVENTION PROPER B. Implementation Dr. Karen June Ventilacion
Towards a Smart Expanded Newborn Follow-up Head
Screening Program Newborn Screening Continuity Clinic Region V
Plenary 3 - 6 11:10am-11:20am BREAK
11:20am -12:00nn PLENARY 5: Panel Discussion on how to Dr. Cynthia Feliciano

October 6, 2021 deal with False Positive and False Chair
Negative Results Experts Committee on CAH
Moderator: Dr J Edgar Winston Posecion
Dr. Reynaldo de Castro, Jr.
Experts Committee on Thalassemia
Dr. Mary Anne Chiong

Experts Committee on Metabolic Disorders
12nn-12:10nn Open Forum
12:10-12:30 nn PLENARY 6: Advancing Nutritional Dr. Juliet Sio-Aguilar

Therapy for patients with IEMs in the Department of Pediatrics
Philippines UP- Philippine General Hospital
12:30-12:40 nn Open Forum
12:40nn-1:00pm Closing and Synthesis of Day 1 Dr. Maria Melanie Liberty B. Alcausin
Director
Institute of Human Genetics NIH

8:30am-8:35am Course Overview for Day 2 Dr. Ebner Bon G. Maceda

Head
Scientific Committee
8:35am-9:05am PLENARY 7: The Ethical and Legal Dr. Mary Ann R. Abacan
Issues of Telemedicine in ENBS Bioethicist/Geneticist
(Case-based Scenarios) Division of Clinical Genetics
Department of Pediatrics - UP-PGH
SCIENTIFIC PROGRAM James Dennis Gumpal, LLB, MD

Chief, Legal Office
MAIN CONVENTION PROPER
Towards a Smart Expanded Newborn
Screening Program 9:15am-9:45am PLENARY 8: Keeping it Up-To-Date:
Data Analysis and its Role in Updating
the Algorithms
Plenary 7 - 9
A. Congenital Adrenal Hyperplasia Dr. Eva Maria C. Cutiongco - de la Paz
Clinical Geneticist
October 7, 2021
Executive Director
National Institutes of Health
Moderator: Dr Lorna R. Abad
B. Thalassemia Dr. Maria Beatriz P. Gepte

Chair
Experts Committee on Thalassemia
9:45am-10:00am PLENARY 9: Updates on the PhilHealth’s Dr. Mary Antonette Remonte

Newborn Care Package Senior Manager, Benefits Development&
Research Department
Philippine Health Insurance Corporation
10:10am-10:20am BREAK

10:20-am-10:50am PLENARY 10: Innovations in the ENBS

Program
A. Social Media in Newborn Nikki D. Dela Cruz, RN

Screening: Strategies to Inform Project Development Officer
and Influence Newborn Screening Center-Central Luzon
B. Continuing NBS training for Dr. Janet Miclat
NSFs amidst the pandemic NBS Program Manager
SCIENTIFIC PROGRAM Center for Health Development Region III
C. Dietitian: A Vital Member of the Dominga L. Dawe, RND
MAIN CONVENTION PROPER NBS Continuity Clinic Team Dietitian
Towards a Smart Expanded Newborn Newborn Screening Continuity Clinic
Cordillera Administrative Region
Screening Program
Plenary 10 - 12 11:00am-11:10am Video clip of patients (adolescents)
11:10am-11:30am PLENARY 11: Transition to the Adult Dr. Margaret Mae Maaño
October 7, 2021 Clinic Adolescent Medicine Specialist
11:30am- 12:30nn PLENARY 12: Other Screening

Moderator: Dr Lorna R. Abad Programs in Children Dr. Charlotte Chiong
A. Newborn Hearing Screening Dean, UP College of Medicine
B. Pulse Oximetry Screening for Dr. Jonas del Rosario
Critical Congenital Heart Spokesperson, UP-Philippine General
Diseases Hospital
C. Vision Screening Program in Dr. Leo D. P. Cubillan
the Philippines Director, Philippine Eye Research Institute,
NIH, UP Manila
12:30 -12:40 nn Open Forum
12:40- 12:50 nn Closing and Synthesis of Day 2 Dr. Rizalina Racquel Gonzalez
President
Newborn Screening Society of the Philippines,
Inc. (NSSPI)

Towards a SMART
ABSTRACTS

The Philippine Newborn Newborn screening has been in the Philippines for 25 years. It has come a long way
since 1996 when DBS were couriered to the Children’s Hospital of Westmead in
Screening Program Sydney Australia for testing. Eventually, in 1997, the NBS lab at NIH started in-house
testing for CH, CAH, Galactosemia (Gal), Phenylketonuria (PKU) and
Dr. Sylvia C. Estrada Homocystinuria (Hcy); later, added G6PD and discontinued Hcy screening in 2000.
With DOH-NIH collaboration and partnership strengthened in 1999, the program
grew and expanded nationwide grassroots’ information dissemination, advocacy and
training. It was the NBS Act of 2004 that mandated “every health care professional to
ensure that NBS is offered and provided to all newborns” nationwide. Funding moved
from personal expense to partial coverage in 2007 and finally, 100 % coverage by
Philhealth in 2012. In Dec 2014, the Philippine Newborn screening program officially
“expanded” and made available the screening for 28 disorders (later 29) which became
fully implemented in 2019.
The program is a dynamic one. Its mission is “to ensure that all Filipino children
will have access to and avail of total quality care for optimal growth and development
of their full potential”. It has undergone many changes (i.e., administrative,
operational, advocacy, clinical management) and adaptations in the system while
adhering to international standards of quality assurance in response to the evolving
needs of the Filipino. The collaboration of all stakeholders with a shared vision of
optimal newborn care and health for the Filipino child has made NBS a sustainable
reality in the country.
The talk will summarize the historical journey and growth of the Phil NBS as it
moves towards its goal: “By 2030, all Filipino newborns are screened and properly
managed for common and rare metabolic disorders to reduce preventable deaths of
newborns”.

Overview of the The implementation of Expanded Newborn Screening (ENBS) significantly

imparts better health outcomes for Filipino newborns affected by life-threatening
ENBS Disorders hereditary disorders. A data review conducted in the California Newborn Screening
Program revealed a significant number of Filipino newborns screened with
Dr. Maria Paz Virginia K. Otayza hemoglobinopathies, endocrinologic, and metabolic disorders. In 2014, ENBS was
implemented through the DOH Administrative Order 2014-0045, giving the parents
the option of whether to test their babies through 6 tests or ENBS. By then, the ENBS
coverage was progressively increasing despite the partial Philhealth benefits applied
at that time. With the full implementation of ENBS in 2019, through the revised and
updated DOH and Philhealth guidelines, ENBS coverage heightened to more than
70%.
Knowing the ENBS Panel of disorders and their consequences will keep the
NBS program enforcement on the right track. Most of the ENBS Panel of Disorders
are rare disorders that require immediate and delicate medical attention. Henceforth,
timely screening, follow-up, diagnosis, and management of babies screened with
these disorders is important.

Dried blood spots are sampling technique where blood samples are blotted on an
Proper DBS Collection absorbent paper to be used for analysis. This in particular is an important usage of
the expanded newborn screening test. As per Implementing Rules and Regulation of
Dr. Bernadette C. Halili-Mendoza RA 9288, collection of these samples may be performed by a trained health
professionals like physicians, nurses, medical technologists and midwives. There are
also certain preparations to consider prior to its collection like the availability of the
materials that will be used for the collection, the accuracy and completeness of the
filling out of the critical fields in a newborn screening filter card. The most common
procedure used in collecting a sample is by using the Heel Prick Method. This is
ideally done immediately after 24 hours by pricking the heel twice in quick succession
on the lower lateral part of the heel. The proper way of drying and wrapping of the
sample of the dried blood spot prior to sending to the center must be appropriately
done. The samples sent to the center will be sorted to be able to determine if the
collected samples are satisfactory and acceptable. There are different reasons for a
sample to be labeled as unsatisfactory that causes a delay in the test results that is
why it important to do a proper collection of a dried blood spot. To end, we have to
remember that a timely, correct and proper way of collecting a dried blood spot can
give all newborns their rights to live a quality life.

Newborn Screening Program is governed by Republic Act No. 9288

otherwise known as “Newborn Screening Act of 2004”, with primary objective to
“Ensure that every newborn has access to newborn screening for certain heritable conditions
Timeliness of NBS that can result in mental retardation, serious health complications or death if left undetected
and untreated”. The effectiveness of the program depends on the implementation of
its six essential elements.
Dr. Alma M. Panganiban-Andal
Timeliness in newborn screening (NBS) is a crucial part of one of the elements of the
NBS system as this greatly influence the timely screening, confirmatory, as well as
the management and/or treatment of positive/deficient screened patients.
For the timeliness of NBS sample collection, this is dictated primarily by the
rigorous implementation of routine newborn screening within the newborn
screening facility, complemented by the willingness of the parents brought by
educated consent. The transit of NBS samples, on the other hand, is a shared effort
between the newborn screening facilities, accredited couriers, partner agencies and,
newborn screening centers.
This lecture will provide participants with a concise review of the existing
guidelines and frameworks related to the timeliness of NBS. Because of the major
impact of timeliness in the implementation the program, the two timeliness
indicators, namely, average age of collection and average transit time, which are
reflected in the NSF Performance Summary Report, will be discussed particularly.
Related criteria found in the Philippine Performance Evaluation and Assessment
Scheme Tools (PPEAS Tools) for Program Evaluation and Monitoring of the
Newborn Screening Facilities (NSFs) will also be presented. The participants will
also be given with some scenarios causing delay in either the timely collection or
transit of NBS samples alongside with the general recommendations to address such
issues based from the experiences of the Newborn Screening Center - Southern
Luzon.

Short-Term and Long-Term The Overall Mission of Newborn Screening is “To ensure that all Filipino
children will have access to and avail of total quality care for the optimal growth
Follow-up and development to reach their full potential.” This mission can be achieved if all
positive screened cases are recalled, followed up and referred to specialists for
Dr. Anna Lea G. Elizaga timely diagnosis and management.
Short Term Follow Up is initiated by the Newborn Screening Center after the
laboratory releases the results. These cases are endorsed to the Follow Up Team of
the center composed of competent nurses headed by a Follow Up Head. The team
then relays the results to the Newborn Screening Facilities for recall either for repeat
testing, for confirmatory tests and for referral to specialists. The short term follow
up starts from recalling the patient up to the time when the case is confirmed by
the specialists and management has started.
After confirmation of the disorder by the specialists, the confirmed case is then
endorsed to the Continuity Clinic for Long Term Follow Up care. A continuity clinic is
manned by a Continuity Clinic Physician and a Continuity Clinic Nurse. Currently,
there are 15 Continuity Clinics located in strategic locations all over the country. This
is to ensure that all confirmed cases are still being followed up and are continuously
being managed accordingly.

The world demands for a SMARTer health care system to enhance quality of
care. A SMART healthcare system is characterized by a rapidly growing Internet of
Towards a Smart Things, automation and digital connectivity, big data analytics and cloud platforms,
and holistic and interdisciplinary constant innovation. It uses technologies to access
ENBS Program information, connect to people, health resources and healthcare-related institutions. It
actively manages, responds to the medical ecosystem dynamically, easily and
Dr. Carmencita D. Padilla
intelligently. It promotes interaction between stakeholders; ensures people get the
services they need; help stakeholders make informed decisions; and facilitate allocation
of resources.
The Philippine Newborn Screening Program is now phasing the move towards
a SMARTer healthcare system:
• Digital Connectivity: social media health promotions, mobile app-based

connectivity and interventions
• Automation: electronic medical records at the continuity clinics; upgrading
of Laboratory Information System (LIMS) and NSF information systems;
report automations of External Quality Assurance Reports
• Patient Centric experience: telehealth and telemedicine, smart scheduling
and reminder system
• Analytics and Big Data: cloud-accessible database and reports; testing
databases; patient registries; NBS portal - digital mappings of stakeholder
locations; data analytics for experts and newborn screening research use
• Holistic and Interdisciplinary Innovation: program monitoring online tool,
evaluation, and feedback system
A smart healthcare for newborn screening can vastly improve the service
delivery of the program in terms of timeliness, efficiency, convenience, and
communication among stakeholders. However, the path towards a smart healthcare
system depends not only on the technological progress, but in the resilience, readiness
and joint efforts of patients, health workers, health institutions and technology service
providers.
Is your health facility part of it? Are you part of it? Can you be part of it?

Disease mapping is a visual representation tool used in analysis and

The Value of Disease Mapping communication in public health. Advances in technology such as availability of
in the Philippine Newborn geographic information systems has been applied to various health associated
undertakings i.e., cancer mapping, potential spread of disease such as Covid,
Screening Program identifying populations at risk, health outcomes, risk factors and outcomes and,
availability of health interventions. Disease surveillance is commonly accompanied
Ma. Elouisa L. Reyes by maps and is an important tool in the management of disease.
Newborn screening was implemented in the Philippines in 1996. While the

prevalence of the condition has been determined, much is needed to be known on the
geographic distribution of the patients. The Philippine newborn screening program
has started embarking on the use of this tool and it’s already on its Phase 1 of
implementation. Disease map will initially be used in the improvement of program
implementation: 1) planning for expansion of referral and treatment network
including strategic location of continuity clinics and confirmatory centers, 2) allowing
informed decisions about future allocation of health resources, 3) patient tracking and
management, and 4) collaborative social and health research.
However, there remain several challenges to the creation of disease maps: 1)

the cleanliness and integrity of data, 2) wider accessibility to the GIS infrastructure,
and 3) adequacy and sustainability of technical and analytical skills

From the Core to the Grassroots: The objective of this session is to understand why the CHGS was established,
and what its role is in the Newborn Screening Program. The Republic Act 9288 or
Center for Human Genetics the newborn screening act of 2004 established a comprehensive system not only in
Services and its link with the diagnosis and confirmation of disorders but including even education and
Continuity Clinics management and provision of patient needs. In 2014, the number of disorders being
screened was expanded from six to 28 and now 29 disorders. Alongside this, a follow-
up and treatment network was established to ensure the long-term management of
Dr. Leniza G. de Castro-Hamoy identified positive cases with the establishment of initial 14 continuity clinics in
strategic regions in the country. These clinics keep track of each identified affected
individual through the NBS and ensure compliance in follow up and treatment.
However, there was still a gap in the long-term follow up of the patients due to
problems in access to medical specialists, and other specialized health professionals
such as genetic counselors and trained dietitians, as well as in access to medical food
and orphan drug products. DOH AO 2020-0052 serves to address these gaps. CHGS
was created to provide comprehensive clinical evaluation, appropriate therapeutic
management, and genetic counseling services to families or individuals with genetic
and metabolic disorders.
The primary goal of the CHGS is to facilitate comprehensive clinical

management and genetic counseling services for families and individuals, by
assisting the continuity clinics in the long-term management of patients. Each CHGS
will serve as the central repository of medical foods, orphan drugs and products and
other treatment needs, and will coordinate the distribution of these to the NSCs and
NBSCCs. Aside from this, the CHGS will also be conducting research, collaborating
with different stakeholders, and assisting with capacity building all with the aim to
improve patient outcomes.

The increase in the capacity of the Philippines to screen newborns with

The Essential Linkages: Newborn congenital metabolic or endocrine disorders have, likewise, increased the number of
Screening Continuity Clinics - children needing appropriate long-term care and management. While specialized
Linking the provinces through healthcare services are available in many highly urbanized cities in the country, access
to these special services are limited.
Satellite Clinics (Establishment)
Region VI data shows that the distribution of newborn screening (NBS) cases
Dr. Renilyn Reyes in Western Visayas is widespread in all 6 provinces and 2 highly urbanized cities. With
637 confirmed cases managed by one Newborn Screening Continuity Clinic (NBS CC),
it is imperative to organize a referral and management system to make long-term
follow-up (LTFU) care services widely available and locally accessible.
The DOH Administrative Order No. 2014-0035 sets initial guidance in making
LTFU services more localized for the provinces/cities. With this policy support, the
concept of NBS Satellite Clinics (NBS SC) from the original “sentinel sites” was
developed.
The primary role of the NBSSC is to act as an “extension arm” of the NBSCC in
the case management who may have limitations in accessing LTFU services. Initial
steps in organizing the NBSSCs includes solicitation of governance support,
identification of hospital sites, inventory of medical specialists and clinical laboratory,
capacity and alliance building , and monitoring and evaluation. The LTFU teams of
the NBSSCs were capacitated to recall, assess, manage, and make appropriate referrals
to the NBSCC and/or the specialists-in-charge. From this network, a more capable
facility (Corazon Locsin Montelibano Memorial Regional Hospital), was expanded to
become the NBSCC for Negros Occidental and Bacolod City. This expansion further
localized care and eliminated the need for inter-island travel to avail services.
Establishing satellite clinics is only one of the many aspects needed to improve
healthcare for NBS patients. The real challenge is in sustaining, constantly innovating,
and continuously engaging all health partners for this endeavor – from parents to
policymakers.

The Essential Linkages: Newborn The Continuity Clinics were conceptualized to implement the mandate of
providing referral centers and long-term care and management to all screened positive
Screening Continuity Clinics - newborns. Initially, the plan was to set up a Continuity Clinic per region. However,
Linking the provinces through increasing coverage and the implementation of Expanded Newborn Screening (ENBS)
Satellite Clinics (Implementation) has allowed more Continuity Clinics to operate across the country, with more babies
being screened. Early in the program, one challenge was the accessibility of the
Continuity Clinic to our patients. The geographic constraints led to the establishment
Dr. Karen June Ventilacion
of Satellite Clinics in our region. This proved timely and useful in the pandemic when
border restrictions and lockdowns became the new norms and threatened the
standard of treatment.
The people behind the Continuity Clinic are committed and passionate to rise
to the challenge of ensuring early treatment and appropriate management of
identified positive cases. The clinics collaborate their efforts with various agencies
such as the Newborn Screening Reference Center (NSRC), Newborn Screening
Centers (NSCs), Department of Health-Regional Office (DOH-RO), City Health
Offices (CHOs), Provincial Health Offices (PHOs), and local government units
(LGUs).
We, at the Continuity Clinics, are always on the lookout for strategies to
improve the delivery of our services, sharing best practices to enhance the program.
After all, the success of newborn screening is not measured by the number of babies
screened but by the number of prevented deaths and mental retardation. Due to
Continuity Clinics and the tireless efforts of the people behind them, patients were
able to grow up healthy and reach their full potential.

Dr. Cynthia Feliciano
Panel Discussion on how to deal with False Positive

and False Negative Results
The newborn screening process uses dried blood spot sample collection
which involves the collection of a small volume of blood, via a simple heel prick in
the newborn onto a cellulose or polymer paper card. This is then followed by drying
and transport to the laboratory for analysis. False positivity and false negativity may
happen depending on a number of factors which include maternal, neonatal and
environmental factors. Data collected are important in the interpretation of results
Dr. Reynaldo de Castro, Jr.
and are critical for the immediate recall of patients who have positive results in the
screening. Doing a timely expanded newborn screening and performing the
necessary confirmatory tests are very important to diagnose and manage these
disorders in a timely and adequate manner.
Dr. Mary Ann Chiong

Advancing Nutritional Therapy

for patients
with IEMs in the Philippines Feeding of infants and young children can be a grueling challenge to the parents
and carers, as they balance good feeding practices with appropriate nutrition. Such
can even be more exacting when dealing with patients with inborn errors of
Dr. Juliet Sio Aguilar
metabolism (IEMs). A delicate equipoise between substrate avoidance or restriction
and a sustainable diet to support growth and development is crucial in the nutritional
intervention of these patients. While medical foods may be available, such diets may
not be feasible and affordable in the local setting. Moreover, food preferences are not
uniformly similar across the different age categories. It is thus essential for the
healthcare providers to be knowledgeable about the food composition of the locally
available food products. The Food Composition Table (FCT) is the commonest way of
determining the nutrient content of specific foods. The Philippine FCT however does
not provide the pertinent information necessary for the formulation of diet menus for
patients with IEMs.
To address this information gap, we embarked on a descriptive, cross-sectional

research investigating the biochemical and nutritional content of 30 commonly used
food products in the local setting. With the products representing the various food
groups, the proximate analyses of the crude protein, amino acid, galactose, vitamins,
and minerals were determined. Total carbohydrates and calories of the various foods
were also determined. With the additional available data, nutritionists-dieticians can
better devise recipes that are appropriate for patients with IEMs.

Dr. Mary Ann R. Abacan

The Ethical and Legal Issues of Telemedicine in ENBS
(Case-based Scenarios)
Telemedicine refers to the interaction between a patient and a healthcare professional
using electronic and communication technologies like videoconferencing rather than
face to face. When the Covid-19 pandemic started, the use of telemedicine has been
maximized to provide safe and effective patient care, especially for outpatient cases.
Short-term and long-term follow-up visits of the newborn screening utilized this
platform to continue providing care despite the limitations and restrictions brought
about by the pandemic. With the utilization of telemedicine, healthcare professions
should be aware of both the ethical and legal considerations in using this platform.
Concerns regarding data privacy, consent, refusal to adhere to physician advise and
extent of doctor-patient relationship needs to be discussed.
James Dennis Gumpal, LLB, MD

Keeping it Up-To-Date:
Data Analysis and its Role in
Updating the Algorithms
(Congenital Adrenal
Hyperplasia) Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive
disorders of cortisol biosynthesis. It represents a continuous spectrum of clinical
Dr. Eva Maria C. Cutiongco - de la Paz manifestations with over 95% of all cases caused by 21-hydroxylase deficiency (21-
OHD) due to CYP21A2 gene mutation. Newborn screening (NBS) for CAH has been
part of the panel of disorders screened through the Philippine National Newborn
Screening Program since 1996. The estimated prevalence of CAH is approximately 1
in 19,668 newborns (NSRC, 2019). However, due to the rapid, fatal course of classic
salt-wasting CAH, a percentage of patients who were NBS screen positive die before
any diagnostic confirmation could be done. From a total of 11, 919 newborns who had
a positive screen for CAH from January 2015 to December 2019, a total of 2,329 (19.5%)
newborns died prior to confirmatory testing and have remained as open cases. An
operations research entitled, “Development of 2nd Tier Testing to confirm Congenital
Adrenal Hyperplasia among Mortalities in Screen Positive Newborns using
Molecular Genetic Analysis” is being conducted with the aim of identifying and
confirming true positive cases. This research can help resolve these open cases and
provide a more accurate estimate of CAH burden in the country. Data from this study
can be used to develop 2nd tier DNA- based testing to enhance NBS program efforts,
leading to a more timely diagnosis and management of CAH.

Keeping it Up-To-Date: Thalassemia is a group of hereditary disorders characterized by quantitative

defects in the α- or β- globin chain production of the red blood cells. Clinical
Data Analysis and its Role in manifestations vary from asymptomatic to blood transfusion dependent affected
Updating the Algorithms individuals to death. This condition is very common in Asia. Identification of children
affected with this condition and early intervention can prevent lifelong complications
Dr. Maria Beatriz P. Gepte like growth failure and iron overload.
The implementation of the Expanded Newborn Screening Program in 2014

which included hemoglobinopathies and its full coverage by the National Health
Insurance in 2019 resulted to an increased coverage of more than 90% and improved
detection of hemoglobin disorders in our population. Integral to the program is the
establishment of algorithms and protocols for screening, confirmatory testing, and
follow up care. Fine tuning in these necessary components of the program requires
further research, regular analysis of collected data and probably crucial adjustments
in cut off points balancing the need for a more comprehensive coverage vis a vis
available resources.

Updates on the Philhealth's PhilHealth implemented its Newborn Care Package (NCP) in 2006. The NCP
Newborn Care Package included newborn screening as one of the basic services for newborns to be provided
at birth. The services were reimbursed as a case-based payment to hospitals and
birthing homes. Initially, the newborn screening only tested for 5 (later 6) metabolic
Mary Antonette Yason-Remote, MD
disorders. Over the years, the NCP had several enhancements and revisions to align
it with the national health goals and PhilHealth strategic directions. The number of
accredited providers where NCP can be accessed, and the newborns who were
screened continued to increase. In 2019, PhilHealth’s included the coverage of the
Expanded Newborn Screening (ENBS) which would test for 28 disorders. At present,
ENBS as one of the mandatory services for NCP being fully implemented.

Social media is a powerful tool when it comes to information dissemination as

Social Media in Newborn it crosses geographical and physical barriers. In the advent of the COVID-19
Screening: Strategies to pandemic, it was utilized more than usual because people rely on the accessibility and
Inform and Influence the amount of health information one can obtain through social media.
Ms. Nikki D. Dela Cruz Health promotion through the use of social media has its pros and cons. Ease
of access, vast reach, and cost-effectiveness are amongst the advantages of the use of
this medium, whilst the spread of fake news, lack of control over the feedback of the
netizens, and possible patient privacy concerns are few examples of its disadvantages.
Social media plays a huge role in boosting public awareness about different
health programs, including newborn screening. At present, the direction of health
program promotions is geared towards online advocacy campaigns since on the
ground activities are highly discouraged due to the threats and restrictions brought
about by the current pandemic. Activities such as fan sign campaigns, webinars, and
use of profile picture frames supporting NBS can contribute largely to ensuring that
more Filipino babies are spared from the complications of congenital disorders
through the program.
Posting and sharing of facts about the nature and benefits of the newborn
screening program can increase its public exposure, especially to health care workers
and expectant parents, which may render an increase in the NBS coverage in the long
run. With just a few clicks, the hope is to create a ripple that can have a greater impact
to the population at large and help increase the chances of saving more babies from
mental retardation and death.

The pandemic has brought about various challenges to ensure continuous

provision of health services and technical assistance to all stakeholders, both public
and private. Such challenge includes continued NBS training to implementers and
Continuing NBS Training for NSFs health facilities.
amidst the pandemic
Dr. Janet Miclat Prior to the pandemic, NBS Trainings were conducted as face-to-face activities
with return demonstrations done in DOH Hospitals. Due to imposed community
quarantine restrictions and DOH Hospitals being End Referral and dedicated COVID-
19 Hospitals, all requests for NBS Trainings were temporarily suspended. However,
with demand from health facilities for NBS Training, despite the current health
situation, and the need to ensure continuous quality provision of essential health
services, an ONLINE training for Newborn Screening was conceptualized and
established by the Region in coordination with the NSRC.
With the complexities of digital technology, the Regional Program faced

difficulties in identifying the best appropriate modality for an online training without
compromising the quality of the training. Additionally, the need to learn and
familiarize oneself with these online virtual platforms was an initial hurdle. However,
the advantage of online trainings allowed the program to conduct more trainings and
allowed participants to attend the trainings while at the comfort of their homes.
One of the mandates for Center for Health Developments is to provide technical
assistance, specifically through capacity building. Hence, despite the pandemic
creating several challenges, it allowed the program to identify gaps in implementation
and take the opportunity to improve its service delivery. While the whole of
government and the whole of society adapts and prepares for a better normal, the
Central Luzon CHD and the Regional NBS Team continues to strive in maintaining
and even improving the standards of quality for health services, including trainings.

Dietitian: A Vital Member

of the This session emphasizes the important roles of the Nutritionist-Dietitian in the
NBS Continuity Clinic Team newborn screening continuity clinic (NBSCC) especially in the nutritional
management of inborn errors of metabolism (IEM) which is to prevent crisis & even
Ms. Dominga L. Dawe death. Despite the challenges, good health of patients boosts fulfillment for the
Nutritionist-Dietitians. It is hoped that the talk on Nutritionist-Dietitians in the NBSCC
will not only highlight its importance, but also inspire other Nutritionist-Dietitians to
play an active part in the team and together spell the difference.

With the advent of Newborn Screening, early diagnosis led to move lives
Transition to the Adult Clinic saved and more babies with these metabolic conditions reaching their prime.
Nowadays more of these children grow up to be teenagers and later on adults ready
Dr. Margaret Mae Maaño to take their place in society. Part of the challenge of growing up includes transition.
Health Care Transition is defined as a “process of moving from a child or family-
centered model of health care to an adult or patient-centered health care.” This
process is comprised of planning, transfer and integration of a pediatric patient into
adult-centered health care.
The Six Core Elements has been a broadly used approach in terms of
implementation of Health Care Transition. It starts with a policy or guide, followed
by tracking and monitoring, then readiness, afterwards planning, then transfer of
care and lastly, transition completion. These elements can be adapted according to
the type of practice employed in health care transition. Types of practice include
transitioning youth into an adult health care clinician, transitioning to an adult
approach to health care without changing clinicians and integrating young adults
to adult health care.
For the transition process to be successful, the support of key players from
pediatric and adult clinicians, hospital or health systems, early and continuous
engagement of parents or caregivers and the young adults are all crucial. Also,
transition of youth with chronic conditions especially those with metabolic
disorders from pediatric to adult health care can differ based on the needs of the
young adult and the availability of adult physicians equipped with the appropriate
specialty knowledge. Hence transition is subject to the available stakeholders in the
health care system as well as must be adjusted to respond to the needs of the youth
with chronic conditions.

It has been two decades since there was a call to action for countries with
Newborn Hearing Screening existent or developing rehabilitation services to undertake neonatal hearing
screening. Studies have shown that the prevalence of bilateral profound hearing loss
Dr. Charlotte M. Chiong in the Philippines was 1.38 per 1000 well within acceptable published data
worldwide. Like many other countries that embarked on universal newborn hearing
screening, the goal of 1-3-6 can be realistically achieved only with systematic
program development and implementation that requires a multidisciplinary
approach. The cost-effectiveness of UNHS has been proven whether hospital-based
or community base screenings are done so long as early intervention is carried out.
The establishment of the Newborn Hearing Screening Reference Center as
mandated by RA 9709 passed into law in 2019 with pilot implementation from 2014-
2019 has led to further efforts in ensuring better access to rehabilitation with the
launch of the pilot site for the Z benefits package for children with hearing
impairment for children below 18 years of age. The National Cochlear Implant
Programme was also launched and the first 18 beneficiaries of cochlear implants
with rehabilitation services with capacity building initiatives by partnerships
between the Philippine General Hospital, Corazon Locsin Montelibano Regional
Medical Center, and Southern Philippines Medical Center. The work of the
Philippine National Ear Institute at NIH UP Manila spanning from 2004 when it was
established by law was highlighted in the light of continuing the journey of
cementing the universal newborn hearing screening program goals and the
intended benefits with global recognition as a model program from a resource-
limited setting.

Background: Congenital heart disease occurs in 9 in every 1000 live births and
approximately one quarter (2-3 out of 1000) of these children will have critical
congenital heart disease (CCHD). Despite the increasing use of prenatal diagnosis, a
The Philippine Multicenter Pulse
significant proportion of affected newborns are still not diagnosed before discharge
Oximetry Screening for Critical after birth. Pulse oximetry screening (POS) has been proposed as an effective, non-
Congenital Heart Disease invasive, inexpensive tool allowing earlier diagnosis of CCHD. In the Philippines,
(CCHD): A Pilot Study there are currently no laws requiring CCHD screening prior to hospital discharge.
Objective: This study aims to provide data on the utilization of POS as

Dr. Jonas del Rosario screening tool in detecting neonates at risk of having critical congenital heart disease.
Method: All healthy newborn infants delivered in each of the participating

hospitals who have met the inclusion criteria are included in the study. POS based
on the Minnesota protocol is performed on babies within 24 to 72 hours of life or prior
to discharge (age <24 hours of life). A motion tolerant pulse oximeter (Masimo iSpO2
Pulse Oximeter) is used.
Results and Discussion: Eighteen institutions are currently enrolled in the study
which is now at 98.38% of data collection. Among the 31, 810 newborns screened for
CCHD, 61 failed the screening. One (1) has persistent pulmonary hypertension
(PPHN), one (1) has PPHN with patent ductus arteriosus (PDA), two (2) have PDA,
fourteen have patent foramen ovale (PFO), thirteen have PFO with PDA, two (2) have
pneumonia and (1) has pneumonia with sepsis. Twelve (12) newborns with failed
screening are cases of CCHD, four (4) have transposition of the great arteries (TGA),
three (3) have pulmonary valve atresia and five (5) have double outlet right ventricle.
The management of the CCHD cases includes the provision of Alprostadil, stent
placement, balloon atrial septostomy and arterial switch operation whichever is
needed on the case. The results of the study will provide a basis of future policies on
the inclusion of POS in the national comprehensive newborn screening policy in the
Philippines.

In the Philippines, four pupils in a class of 40 have vision problem; three of

Vision Screening and them may have error of refraction and one may have amblyopia (lazy eye), a common
Retinopathy of Prematurity condition among children that can cause permanent visual impairment if left
Programs in the Philippines untreated. It has a prevalence of 2-5% in children, making it one of the causes of visual
impairment and preventable blindness. As a public health intervention, the National
Vision Screening Program (NVSP) was established under Republic Act No. 11358 to
Leo DP Cubillan, MD, MPH screen all kindergarten pupils entering the K to 12 Program at age 5 or 6. Vision
screening done at this age would allow early detection of amblyopia when treatment
is still possible. As an immediate intervention, students suspected with visual
problem will be asked to sit in the first three rows of the class and will be subsequently
referred to eye care practitioners for evaluation and management. To continuously
implement the NVSP amidst the COVID-19 pandemic, Online Remote Vision
Screening Program (ORVSP), NVSP’s bridging program, was developed. An online
screening by the Philippine Eye Research Institute (PERI) screeners assisted by
parents/guardians and teachers, it uses screensharing mobile/computer applications
to screen pupils in the comfort of their homes.
Another common cause of blindness due to the abnormal development of retinal

blood vessels among premature infants is retinopathy of prematurity (ROP). ROP is
diagnosed in 2.1% of all premature infants per month and is listed among the most
common cause of visual impairment of children enrolled in blind schools in Metro
Manila. To ensure early and appropriate screening and treatment, the Department of
Health, in collaboration with World Health Organization and PERI, created
guidelines in screening infants at risk of ROP to be released and posted in Neonatal
Intensive Care Units of all hospitals nationwide.

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19th Newborn Screening Convention

Newborn Screening Society of the Philippines, Inc.

In cooperation with the Newborn Screening Reference Center

Book of Abstracts Newborn Screening Society of the Philippines Inc

October 6 – 7 Main Convention

To educate our NBS partners on digitalization as a smart move to effectively

Newborn Screening Society of the Philippines Inc

8:00am-8:45am Admission of Participants

8:45am-9:00am Welcome Remarks and Introduction to Dr. Rizalina Racquel Gonzalez

9:00am-9:30am The Philippine Newborn Screening Dr. Sylvia C. Estrada

10:00am-10:10am Proper DBS Collection Dr. Bernadette C. Halili-Mendoza

10:10am-10:20am Timeliness of NBS Dr. Alma M. Panganiban-Andal

10:30am-11:00am Open Forum

Newborn Screening Society of the Philippines Inc

7:30am-8:30am Admission of Participants

8:30am-9: 00am Opening Ceremonies

Welcome Remarks Dr. Rizalina Racquel Gonzalez

SCIENTIFIC PROGRAM Opening Remarks Dr. Noel R. Juban

9:25am-9:30 am Overview of the Program Dr. Ebner Bon G. Maceda

9:50am-10:10am PLENARY 2: The Value of Disease Ms. Ma. Elouisa Reyes

10:10am-10:20am Open Forum

10:20am-10:40am PLENARY 3: From the Core to the Dr. Leniza de Castro-Hamoy

Newborn Screening Society of the Philippines Inc

11:20am -12:00nn PLENARY 5: Panel Discussion on how to Dr. Cynthia Feliciano

Dr. Mary Anne Chiong

12nn-12:10nn Open Forum

12:10-12:30 nn PLENARY 6: Advancing Nutritional Dr. Juliet Sio-Aguilar

Newborn Screening Society of the Philippines Inc

7:30am-8:30am Admission of Participants

8:30am-8:35am Course Overview for Day 2 Dr. Ebner Bon G. Maceda

SCIENTIFIC PROGRAM James Dennis Gumpal, LLB, MD

B. Thalassemia Dr. Maria Beatriz P. Gepte

9:45am-10:00am PLENARY 9: Updates on the PhilHealth’s Dr. Mary Antonette Remonte

10:00am-10:10am Open Forum

Newborn Screening Society of the Philippines Inc

10:20-am-10:50am PLENARY 10: Innovations in the ENBS

A. Social Media in Newborn Nikki D. Dela Cruz, RN

Plenary 10 - 12 11:00am-11:10am Video clip of patients (adolescents)

11:30am- 12:30nn PLENARY 12: Other Screening

Newborn Screening Society of the Philippines Inc

Newborn Screening Society of the Philippines Inc

Newborn Screening Society of the Philippines Inc

Overview of the The implementation of Expanded Newborn Screening (ENBS) significantly

Newborn Screening Society of the Philippines Inc

Newborn Screening Society of the Philippines Inc

Newborn Screening Program is governed by Republic Act No. 9288

Newborn Screening Society of the Philippines Inc

Newborn Screening Society of the Philippines Inc

• Digital Connectivity: social media health promotions, mobile app-based

Newborn Screening Society of the Philippines Inc

Disease mapping is a visual representation tool used in analysis and

Newborn screening was implemented in the Philippines in 1996. While the

However, there remain several challenges to the creation of disease maps: 1)

Newborn Screening Society of the Philippines Inc

The primary goal of the CHGS is to facilitate comprehensive clinical

Newborn Screening Society of the Philippines Inc

The increase in the capacity of the Philippines to screen newborns with

Newborn Screening Society of the Philippines Inc

Newborn Screening Society of the Philippines Inc

Dr. Cynthia Feliciano

Panel Discussion on how to deal with False Positive

Dr. Mary Ann Chiong

Newborn Screening Society of the Philippines Inc