new born screening
TRANSCRIPT
BASIC INFORMATION ABOUT
NEWBORN SCREENING IN
THE PHILIPPINES
A. What is Newborn Screening? Newborn Screening (NBS) is an
essential public health and management
of several congenital metabolic
disorders, which if left untreated, may
lead to mental retardation and even
death.
It is an integral part of routine newborn
care in most developed countries for
four decades, either as health directive
or mandated by law.
Early diagnosis and treatment of the
disorders can result to normal growth
and development of the affected
individual.
What do you mean by
NSF,NSC,and NSRC? Newborn Screening Facility (NSF) – a
specifically identified healthcare facility that collects samples for newborn screening of babies, born either within the healthcare facility or elsewhere, and has operational recall/follow up program for newborns with heritable conditions.
Newborn Screening Center(NSC) – a facility equipped with a newborn screening laboratory that complies with the standards established by the NHIP, and provides all required laboratory tests and recall / follow – up programs for newborns with heritable conditions.
What do you mean by NSF,NSC,and
NSRC? Newborn Screening Reference Center
(NSRC)- a central facility at the NIHP that defines testing and follow-up protocols, maintains an external laboratory proficiency testing program, oversees the national testing database and case registries, assists in training activities in all aspects of the NBS program, oversees content of educational materials, recommends establishment of NSCs and acts as the secretariat of the Advisory Committee on Newborn Screening.
How did Newborn Screening start in
the Philippines?
NBS in the Philippines began 1996 when
group of pediatricians and obstetricians
initiated the Philippine Newborn Screening
Project in 24 pilot hospital in Metro Manila.
The group conducted the research with the
following objectives:
NBS OBJECTIVES
a. To determine the local incidence of congenital hypothyroidism
(CH), Congenital adrenal hyperplasia (CAH),phenylketonuria
(PKU),galactosemia (Gal) and homocystinuria (HCY) and
b. To make recommendations for nationwide implementation of
the newborn screening
How did Newborn Screening start
in the Philippines? In accordance with the mandate and thrust of
ensuring quality life for all Filipinos, the following were undertaken by DOH in the implementation of NBS.
1999 DOH included NBS in their child health 2025 framework . A DOH inter-agency, was created to design a national plan for the nationwide implementation of newborn screening. To disseminate and initiate NBS at the regional level representatives from the 16 Center for Health Development (CHD) offices were designated as regional coordinators and were oriented to NBS in September 1999.
history January 2000- Issuance of administrative
order 1-A s, 2000 entitled “ Policies on
the Nationwide implementation of
Newborn Screening.
February of 2001- Creation of an inter-
agency National Technical working group
on NBS (NTWG-NBS) . The group was
tasked to provide national direction and
guidance in the attainment of the project
goals stipulated in the DOH
Administrative Order 1-A series of
2000.
history
June 2001- Conduct of Strategic Planning Workshop on NBS participated by Private and Public hospitals and other stakeholders.
January 2004- Issuance of second department order No. 121, s 2003, entitled “Strengthening the implementation of the National Newborn Screening System”.
PD No. 540 entitled: “Declaring first Week of October of each year as the “National Newborn Screening Week” as declared by Pres. GMA Jan. 20,2004.
history
Last April 7, 2004, Republic Act 9288 known as the “Newborn Screening Act of 2004” was enacted to institutionalize NBS in the Philippines.
The Implementing Rules and Regulation of RA 9288 was signed last October 5, 2004.
What Are the highlights of RA 9288 and its
implementing rules and regulations and their
implications?
Section 5 of RA 9288- Obligation of Health
workers to inform about newborn screening
among its clients any health practitioner who
delivers or assist delivery of a newborn in the
Philippines shall prior to delivery, inform
patients and legal guardians about the
availability and benefits of NBS.
Highlights of RA 9288
Section 6 RA 9288- NBS shall be performed after 24 hours from birth but not later than three days from complete delivery of the newborn. A newborn that may be placed in an intensive care in order to insure survival may be exempted from the 3-day requirement but must be detected by 7 day of age. It shall be a joint responsibility of the parents and the practitioner or other persons delivering the newborn to ensure that NBS is performed.
Highlights of RA 9288
Section 10 of RA 9288 : Defining DOH lead agency.
Section 11 of RA 9288: Creation of Advisory Committee on NBS Composition DOH, DILG, NIH, NSRC,CWC,3 representatives( pedia, obgyne,
midwife, nurses, family physician, endocrinologist).
Section 12 of RA 9288: Establishment of accreditation of NBS.
Highlights of RA 9288
Section 13 of 9288: Establishment of NSRC by NIH which will be responsible for the Quality Assurance of all NBS Center, national testing, database, and case registries,training,technical assistance and continuing education for lab staff of all the NBS center
Section 14 of 9288: Quality Assurance all NBS center shall follow the prescribed guidelines of good laboratory proficiency/ practice standards set by NSRC.
HIGHLIGHTS OF RA 9288
Section 16 of RA 9288: PHIC inclusion of NBS in its benefits.
Section 19-d of the IRR: DOH will regulate the NBS fee to be charged by the NSC and set the maximum allowable service to be charged by all facilities and collecting NBS samples.
Section 14-A of the IRR: Health Facilities as Major stakeholders shall ensure the implementation on NBS and will have the following responsibilities:
Section 14-A of the IRR
Integrate NBS in the delivery of health
services
Serve as collecting health facility for NBS
Coordinate with duly accredited NSC
Ensure that adequate and sustained NBS
services such as Information, education,
communication, screening, recall and
management of identified cases are being
provided in the hospital.
Sec. 14-A IRR
Establish the NBS Team that will be
responsible for collection of samples
sending samples to accredited NSC,
prompt recall of positive patients referral
and management of patients.
Establish an appropriate financial system
that will ensure effective and efficient
collection of fees and payment of NBS to
the NSC
Section 14-A IRR
Conduct orientation and /or training of hospital staff on NBS
Monitor and evaluate the implementation of NBS within the institution
Define creative financial packages to make NBS accessible particularly among the economically deprived populace
Section 24 of the IRR: DOH and PHIC shall require health institutions to provide NBS services as condition for licensure and accreditation
Steps in Implementing Newborn
Screening
Step 1- Motivation of Parents
Motivation of parents is the first step in the flow of implementation of Newborn screening.
Proper and early education of parents about NBS and its benefits
. Pre-marriage counseling
. Parent classes
Steps
Prenatal visits
Home visit
All health workers who provide prenatal care and attends to the actual delivery of baby are responsible for informing parents about NBS.
Parental Objection:
sign a written form of “dissent”
Step 2 NBS Specimen Collection
Collecting the specimen
Refers to the taking of blood sample
NBS samples are collected during:
Best/Ideal time: 48th to 72 hour of life
Acceptable time: Anytime after 24 hours from birth until 2 weeks of age.
Important points to remember:
1. Sample collection done before the ideal time may result in:
Specimen collection
a. Falsely elevated thyroid stimulating hormone (TSH)= false (+) screen for CH
b. Falsely elevated 17 hydroxyprogesterone (17-oH-P)= false (+) screen for CH
c. Falsely low galactose and phenylalanine because of inadequate feeding= false(.) screen for Gal and PKU
2. Samples taken less than 24 hours from birth require repeat screening at 2 weeks of age.
Specimen collection
Sample Collection is done in participating health facilities.
Hospitals
Health centers
Rural health unit
Lying-in or birthing facilities
NBS samples are collected by trained health workers such as
Physicians
Medical technologist
Nurses
Midwives
The heel Prick method
Preferred method of collecting blood sample
Proper training of practitioner
Alternative blood (venous blood)
Umbilical blood is not recommended
Step 3 Handling and
transporting of NBS samples Proper handling
Filter paper
Immediate transport
Transporting NBS Samples:
1. Dry the sample for at least 4-5 hours
2. Stack the dried filter papers
3. Wrap the stack sample
4. Accomplish the transmittal form
Transporting NBS
8. Arrange for regular pick-up with courier
Ideal time in sending NBS samples
Pick up and transport of specimen daily
Explore other means of transport
DO NOT BATCH NBS SPECIMENS COLLECTED ON SEPARATE DAYS ( Mon-Fri)
Transporting NBS
5. accomplish the courier forms completely
6. Insert the NBS samples, properly sealed
7. Address envelop to:
Newborn Screening Center
Institute of Human Genetics
National Institute of Health
University of the Philippines
Pedro Gil St., Ermita, Manila
Step 4 Performing the NBS Tests
Day 1- upon receipt of NBS
Day 2-4 – NBS tests are performed on
the accepted samples
CH
CAH
GAL
Step 4 Newborn Screening Test
Glucose-6- Phosphate
Dehydrogenase
Deficiency(G6PD
Deficiency)
Phenylketonuria (PKU)
Step 5 Releasing Newborn
Screening Results Proper and timely
relaying of results is vital to the newborn screening program.
Whether the NBS result is positive or negative, it should be released promptly. Parents have a right to know the newborn screening results of their babies.
2 steps in the relay of NBS results
a. Relaying results from NSC to collecting
health facility
b. Relaying from collecting health facility to
parents/guardians
2 types of NBS Results
a. Normal NBS Results
b. Abnormal NBS Results
For normal NBS results
The NSC releases NORMAL results or the
NBS Summary through the following:
For Normal NBS results , the NSC
releases normal results thru : a. Fax or email to NBS Facilities
with fax or-Daily
b. Courier to those who do not have fax or email-Weekly
Hard copies of the results sent through fax and e mail are sent through the courier by the end of the month.
The NBS Coordinator is responsible for ensuring the distribution of the individual.
The NBS coordinator is responsible
for ensuring the distribution of the
individual.
Normal NBS results to the Attending Physician or
Health Practitioner who attended the birth of the
newborn.
When NBS coordinator or attending Physician or
both are not available, the result may be given
directly to the parents.
For Abnormal NBS Results
The report is sent to the NBS coordinator and the attending physician through fax or email. A telephone call is made to verify receipt of the report.
When fax or email is not available, the result is relayed via telephone within 24 hours. A hard copy of the NBS result is sent through the courier.
Step 6 Recall of Patients
Recall is the immediate location or tracking of a newborn with a positive screen for appropriate laboratory testing to confirm the diagnosis and , when appropriate, provide treatment.
It is the act of calling parents or guardians of the patients to inform them that the baby needs one of the following:
Step 6 Recall of Patients
1. A repeat blood sampling.
2. Further testing
3. Confirmation test
2 types of recall
a. Recall of babies with positive
screen
b. Recall of babies with
unsatisfactory samples.
Step 6 Recall of babies with positive
screen Any patient with a positive
screening result must be recalled immediately for confirmatory tests or referral
The recall of the patient is the main responsibility of the collecting health facility. The NBS Team should ensure that all newborns with positive screen and with unsatisfactory samples are recalled.
Step 6 Recall of babies with
positive screen The NBS Overall Coordinators should see
to it that all babies with positive screen are
recalled promptly. The health facility should
designate a person in- charge responsible
for the recall of patients to ensure that
parents or guardians of babies with positive
screen are informed immediately.
In case both the Attending Physician and
NBS Hospital Coordinator are not able to
do the recall.
Step 6 Recall of patient with
positive Screen
The NSC Follow-up Nurse will do the recall to prevent further delay. A thorough explanation about the purpose of recall must always be given to minimize anxiety on the part of the parents/guardian/ relatives.
Recall babies with NBS Samples Unfit for Screening(Unsatisfactory samples)
Equally important is the recall of patients with rejected samples. The proper blood samples must be taken immediately in order to perform the NBS tests.
Step 6 Recall of babies with positive
NBS screening
As much as possible, unsatisfactory
samples must be detected before the
sample is even sent to NSC so that a
repeat sample can be collected while the
baby is still in the NSF. Comparing the
sample with "Simple Spot Check” poster
can minimize rejects.
What makes samples unfit for testing?
1. Contaminated(water, dirt, beverage)
2. Insufficient blood( not enough to perform the whole newborn screening panel)
3. Sample taken within 48 hours after blood or exchange transfusions.
4. Sample taken when patient is on total parenteral nutrition (TPN)
5. Sample taken when baby was on nothing per Orem (NPO)
6. Early sampling ( baby is less than 24 hour of life)
7. NBS samples received at NSC more than 10 days from date of collection or late transport to laboratory (more than10 days).
Reason for immediate recall of
patients In both types of recall, the main purpose is
the early confirmation and management of babies whose screening results are positive.
Prompt recall of patients with elevated results is critical in saving babies from mental retardation or death.
Patients with unfit samples must be recalled immediately. Each disorder has a critical time when it is best to start treatment in order to avoid irreversible consequences.
Means of recalling patients
1. Calling by phone
2. Text messages
3. Sending letters, telegrams ,fax or email
4. Utilizing tri-media advertisements such as tabloids, local and national newspapers, radio and television announcements
5. Home visit
6. Coordinating with the provincial health office, municipal health office, local government units and/or health center for assistance.
Means of recalling patients
7. Coordinating with telecommunication
companies(e.g. PLDT, Bayantel, Eastern
telecommunications) for assistance
8. Coordinating with civic organizations
such as REACT Philippines.
Responsibilities of the NBS
Coordinator in the recall of Newborns
with positive screen and
unsatisfactory samples
Responsibilities
Prompt notification of the Attending Physician or health care provider of positive screens/unsatisfactory samples.
Immediate notification of parents about the NBS results of their newborn when the attending Physician is not around.
Immediate facilitation of repeat blood collection from babies with elevated results or rejected samples
Immediate facilitation of
repeat blood collection If the baby is not within the
vicinity of the collecting health facilities
Repeat collection in other NSF near the patient’s current residence
Contact the NSC for the list of participating health facility
Ensure that all patients with unfit samples are recalled and repeat collection is done immediately (note the parents do not have to pay for repeat collection).
Proper Documentation
An effective recall system, relies on proper documentation of information about all babies born with the jurisdiction
Document the following information:
complete address of patient
contact numbers and address of individuals who can assist in the recall of the patient(ex. Neighbor, barangay captain,bhw, midwives)all efforts made to recall a baby
Step 7 Management, Referral and
Monitoring of Positive Cases Prompt and appropriate management of babies
with a positive screen is essential to saving them from debilitating consequences of any of the disorders being screened.
The NBS team must ensure that babies with positive screen are managed , referred and monitored regularly.
If appropriate confirmatory tests are not available within the area, the NBS team should facilitate the referral of the baby to the nearest health facility where confirmatory tests are available. The NBS team may call the NSC for assistance.
Management, Referral and
Monitoring of positive cases In the absence of a pediatric specialist, the
attending physician or NBS Coordinator should contact the NSC or NSRC for a list of doctors with the appropriate expertise.
Parents should be properly advised and given precise instructions on what to do when their baby has a positive newborn screening.
The disorders included in the NBS panel require lifetime management. Monitoring should be done regularly.
What to do for patients with
positive NBS for one of the
Disorders
1.Recall patient
Know the health status of the patient, if it is critical, inform the AP about the initial findings and/or suggest referral of the patient to a specialist for immediate management
Meet with the parents and explain the NBS results and things that need to be done
2. Facilitate confirmatory testing
3. Check if confirmatory test was done
4.Follow-up results of confirmatory test
Follow-up results on the
confirmatory test a. If result confirms the condition, refer the
patient
b. If result is negative for the condition,
inform the NBSC coordinator or
attending Physician and close the case.
Referral of Patients to Specialists
The NBS team should see to it that all babies with positive screen are referred to medical institution with specialist for management of the disorder.
In the absence of diagnostic health facilities and specialists in the area , seek the assistance of NBS Reference Center.
The NBS Team should do regular monitoring of the patient with positive screen through the attending physician or by direct inquiry of the patient.
Frequently Asked Questions
About Newborn Screening What is newborn Screening?
Newborn Screening is a simple procedure
to find out if your baby has a medical
condition that can result to mental
retardation or even death if not treated.
When is newborn screening done?
Newborn screening is done between 24-72
hours after birth.
Frequently asked questions
How is newborn screening done?
By heel prick method. 4 drops of blood is
drawn from a heel puncture blotted onto a
filter paper.
What are the disorders tested for
newborn screening? The disorders
tested for newborn screening are:
1. Congenital Hypothyroidism (CH)
2. Congenital Adrenal Hyperplasia (CAH)
Frequently asked questions
3. Galactosemia (GAL)
4. Phenylketonuria(PKU)
5. Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD Def.)
How much is the fee for newborn screening?
P550. The DOH Advisory Committee on NBS has
Approved a maximum allowable fee of P50. for collection of the sample.
Frequently asked questions
Is there a need to get the consent of
the parents for newborn screening?
No, the Newborn Screening Act of 2004
does not require a consent form. This will
be replaced by a dissent form which must
be signed by the parents in case they refuse
to have their child undergo newborn
screening.
Frequently asked questions
Who will collect the sample for
newborn screening?
Newborn screening sample collection can
be done by a physician, a nurse, a midwife or
a medical technologists.
Where is the newborn
screening available?
Newborn screening is available in
participating health
institutions(Hospitals,lying-ins, rural health
units,local government units, health
centers). If the baby is delivered at home,
he/she may be brought to the nearest
institution offering newborn screening.
When are newborn screening
results available?
Newborn screening results are available
within seven working days after the
newborn screening samples are received
in the NBS laboratory.
What does a negative and
positive screen mean? A negative screen means that the result
of the test indicates extremely low risk of
having any of the disorders being
screened.
A positive screen means that the baby is
at increased risk of having one disorders
being screened.
What should be done when the
baby is tested positive for any
of the disorder?
Babies with positive results should be
referred at once to the nearest hospital
or specialist for confirmatory testing and
possible medical management.
The Newborn Screening Center will
assist the patient’s attending physician.
Steps on how to start NBS in
your facilities Inform all sections concerned(e.g. Depts.
And OB, Nursery) the need to set up newborn screening as one of the services of the health facility.
Organize the NBS Team composed of NBS Coordinator and assistant coordinator
Accomplish the Institutional Database and commitment forms should be submitted back to NSRC through courier or mail, together with the copy of the hospital profile.
Prepare and send a purchase
Order(P.O.) of NBS Specimen- Collection Kit contains the following : filter card, lancet, result form and brochure.
Mechanics for preparing P.O. for NBS Specimen Kit
a. All orders for the NBS specimen Collection Kit must be in Purchase Order (PO) of the requesting health facility.
b. Fax a copy of the approved P.O. to NSC. Send the original copy of the P.O. via courier or mail to:
Newborn Screening Center, Institute of
Human Genetics, National Institute of
Health, University of the Philippines;
Manila, Pedro Gil St. Ermita, Manila
Ordered supplies will be sent by the assigned
NSC through preferred courier of the facility
together with the sales invoice in triplicate
Original Sales Invoice is retained at the
receiving health facility and forwarded to its
Accounting Department. The duplicate and
triplicate copies are sent back to NSC within
the same day the order was received.
Terms of Payment: 30 days
from receipt of sales invoice Payment may be made through the following:
a. Bank to Bank- where the validated deposit
slip indicating the pertinent sales invoice
number is sent to NSC immediately
b. Check payment
c. Cash
All unpaid accounts after the given term shall
be imposed interest of 2% per month until fully
paid.
NRC will only replace for free
filter card used for repeat
sample collection of patients
with positive screening
results. Filter cards that were
rejected due to
contamination, insufficiency,
and late transmittal to NSC
will not be replaced.
Prepare Advocacy and Promotional Plan for
the following:
a. Administrators
b. Professionals/Health Practitioners
c. Expectant parents/guardians/patients
As soon as the Newborn
Screening Reference Center
receives the duly
accomplishment forms, you
will be assigned to a Newborn
Screening Center who will
send you the Specimen
Collection Kit.