new born screening

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.


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.


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)


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.


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.


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.

new born screening

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