BDH POLICES & PROCEDURES ON UNIVERSAL NEWBORN SCREENING

~Background~

Newborn Screening is a form of preventive health care in which babies are

tested within the first days of their life to discover evidence of diseases for which
the principal symptoms may not yet be apparent. In order for screening to be
successful a simple and reliable test must exist. Also, there must be a treatment that
makes a difference when the disease is detected early. Screened diseases are
varied; they may be genetic, endocrinology, metabolic or hematologic. What they
all have in common is that without timely treatment they will cause severe harm
to the child.

Unlike treatment-based health care processes, newborn screening is

population-based. This means that tests are not applied just to babies that are sick,
but to all babies, including the vast majority, who will appear to be completely
healthy. A screening test is intended to reveal whether a baby is more likely than
other babies to have a disorder. It does not provide the information that a baby
definitely has a disorder. If a screening test shows an abnormal result, then
diagnostic testing is needed in order to confirm the presence of a disease.

It is important to recognize that the newborn screening process involves far

more than just the screening test. The institution of a program requires that
systems are in place for the efficient collection of samples from all newborns, for
the reporting of results and possible recall of a child for diagnostic testing. Most
important, a system must be in place to ensure that babies with confirmed
disorders receive the timely treatment that they require.

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The history of newborn screening began in the early 20th century when the
British physician and pioneer in medical genetics, Sir Archibald Garrod used the
term, inborn error of metabolism as the title for his 1908 Croonian lecture before
the Royal College of Physicians in London. The four inborn errors of metabolism
that he considered were albinism, alkaptonuria, pentosuria, and cystinuria.
Working only a few years after the rediscovery of Mendel’s work, Garrod had
established that a problem in a specific biochemical pathways was connected with
a gene mutation.

The Comprehensive Newborn Screening (NBS) Program was integrated as

part of the country’s public health delivery system with the enactment of the
Republic Act no. 9288 otherwise known as Newborn Screening Act of 2004. The
Department of Health (DOH) acts as the lead agency in the implementation of the
law and collaborates with other National Government Agencies (NGA) and key
stakeholders. It has been an integral part of routine newborn care in most
developed countries for five decades, either as a health directive or mandated by
law. It is also a service that has been available in the Philippines since 1996. Under
the DOH, NBS is part of the Child Development and Disability Prevention Program
at the Disease Prevention and Control Bureau.

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~Purpose~
Newborn screening is critical to ensure that we don’t have
unnecessary suffering by parents and newborns – and that we prevent as
many adverse outcomes of the disorders as possible and give (the affected
children) as close to the natural life that they would have expected without
the disorder as possible. While reducing suffering is a natural objective for all
health professionals, investment in preventive care yields significant savings
when the total cost of a screening program is compared to the cost of
providing lifetime care and support for people whose diseases could have
been effectively treated had they been detected sufficiently early.

To ensure early detection and management of several congenital

metabolic disorders, which if left untreated, may lead to mental retardation
and/or death. Early diagnosis and initiation of treatment, along with
appropriate long-term care help ensure normal growth and development of
the affected individual.

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 BDH POLICES & PROCEDURES ON UNIVERSAL NEWBORN SCREENING

~Policies and Procedures~

All infants born in Bayawan District Hospital are required by law to be
screened in accordance with the regulation promulgated by the Board of
the Department of Health and Environmental Control (DHEC). This
regulation is further defined by Official Departmental Instructions that
specify the roles and responsibilities of each entity involved in the newborn
screening process. A blood spot specimen is to be collected from each infant
born in BDH, preferably between 24 and 48 hours of age. At present infants
are tested for certain metabolic, hormone/enzyme, and genetic disorders.
The specific disorders included on the test panel are listed below.

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~Metabolic,Hormone/Enzyme & Genetic Disorders~

Organic acid disorders (7)

1. 3-Methylcrotonyl CoA Carboxylase (3-MCC) Deficiency
2. Multiple Carboxylase Deficiency (MCD)
3. Propionic Acidemia (PA)
4. Methylmalonic Acidemia (MMA)
5. Glutaric Acidemia Type I (GA Type I)
6. Isovaleric Aciduria (IVA)
7. B-Ketothiolase Deficiency (BKD)

Fatty acid oxidation disorders (8)

1. Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD Deficiency)
2. Long Chain Acyl-CoA Dehydrogenase (LChAD) Deficiency
3. Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

4. Carnitine Palmitoyl Transferase Type I (CPT1) Deficiency

5. Carnitine Palmitoyl Transferase Type II (CPT2) Deficiency
6. Carnitine Uptake Defect (CUD)
7. Glutaric Acidemia Type II (GA Type II)
8. Trifunctional Protein Deficiency

Amino acid disorders (5)

1. Hypermethionemia
2. Homocystinuria (HCY)
3. Maple Syrup Urine Disease (MSUD)
4. Phenylketonuria (PKU)
5. Tyrosinemia

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Urea cycle defect (1)

1. Citrullinemia

Hemoglobinopathies and thalassemias (1)

1. α-Thalassemia trait
2. Hemoglobin C, D, E, S traits
3. α -thalassemia
4. β-thalassemia
5. Hemoglobin B, C, D, E, F, FE, H Diseases
6. Sickle Cell Disease

Endocrine disorders (2)

1. Congenital Hypothyroidism (CH)
2. Congenital Adrenal Hyperplasia (CAH)

Others (4)
1. Cystic fibrosis
2. Biotinidase Deficiency
3. Galactosemia
4. G6PD Deficiency

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 BDH POLICES & PROCEDURES ON UNIVERSAL NEWBORN SCREENING

~Newborn Screening (NBS) – Blood Spot~

Healthy Newborns
1. The newborn blood spot screen will be completed on all newborns
ideally at 24 hours plus one minute of age or immediately prior to
discharge, whichever comes first. Blood spot specimens will be
collected on the NBS filter paper.

2. If the initial specimen for an infant is collected prior to 24 hours of age

and before the infant has been discharged, the infant’s parents must
be notified that a repeat screen at 3-5 days of age is required. They
may return to the Bayawan District hospital for recollection of the
specimen. Document where the family indicates they will go for
collection of the repeat screen.

3. Newborn Screening Brochures can be ordered from the West Visayas

State University Medical Center, E. Lopez St., Jaro, Iloilo City, 5000
Iloilo.

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Premature/Sick Newborns
1. The premature below 37 weeks or low birth weight below 2,000
grams newborn will have the newborn blood spot screen completed
at one of the appropriate times listed below given the newborn’s
condition:
a. Ideally at 24 hours even if under NPO;
b. Repeat after 24 hours with Breastfeed of 50 ml

2. If screened prior to 24 hours of age, a repeat screen is required at 14

days of life. A repeat screen is also recommended at 14 days of age for
all premature or sick infants.

3. Specimens shall be collected on the NBS filter paper using capillary or

venous blood.

4. If the baby is transfused prior to the collection of an initial screen:

a. Collect initial screen no later than the 7th day of life.
b. Collect TWO Repeat screens:
i. 7 days post transfusion (recommended by NBS Program
because plasma and/or red blood cells will reflect the infant’s
own metabolic processes)
ii. 90-120 days of life (recommended by NBS Program to
evaluate hemoglobin pattern)

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Obtaining and Storing NBS Filter Paper Kits

1. NBS Filter Paper Kits may be ordered through purchase order. Store
the kits at room temperature.

2. Check the expiration date before collecting a specimen.

Tracking NBS blood spot specimens

1. After the specimens are completely dry, ensure they are delivered
to the courier (2GO).

2. Record the filter paper serial # in the appropriate location for ease
of tracking.

Ensure that all newborns are screened prior to discharge

1. Personnel will review newborns in their department to ensure that NBS
specimens have been collected on all newborns.
2. If the newborn is not screened before discharge:
a. Personnel from the unit will notify parents that the newborn
needs to return to the Bayawan District Hospital to have the NBS
collected as soon as possible.
b. Notify the NBS Personnel of the missed screen immediately.

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Repeating the NBS if the initial screen is unsatisfactory

for testing
1. The NBS Follow-up will notify the primary care provider and parent via
Cellular Phone that the specimen was unsatisfactory for testing. The
NSCV-WVSUMC laboratory mails all results to the hospital who
submitted the specimen and the primary care provider.
2. The responsible hospital department will notify the area that collected
the specimen that the specimen was unsatisfactory and request the
specimen be recollected if the newborn is still an inpatient. If the
newborn has been discharged, personnel from the unit will notify
parents that the newborn needs to return to the Bayawan District
Hospital to have the NBS collected within 48 hours.

Obtaining NBS results if the hospital has not received them

within 15 days after the date of Collection
1. The NBS Coordinator will check the NBS worksheet/log daily for
specimen results that have not been received within 15 days of
collection.
2. If any outstanding results are noted, the NBS Coordinator will notify
the NBS Personnel.
3. The results will be obtained from the NSCV-WVSUMC and entered
into the patient’s record.
4. If the NSCV-WVSUMC did not receive the specimen, and the newborn
is still inpatient/admitted, the department where the newborn is
admitted will recollect the specimen. If the newborn has been
discharged, personnel from the unit will notify parents that the
newborn needs to return to the Bayawan District Hospital to have the
NBS collected as soon as possible, no later than 48 hours.

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Ensure that all newborns are screened prior to discharge

1. Personnel will review newborns in their department to ensure that
NBS-Blood Spot screening has been performed.

2. If the newborn is not screened before discharge:

a. Personnel from the unit will notify parents that the newborn needs
to return to the Bayawan District hospital to have the screen
performed as soon as possible.

b. Notify the NBS Personnel of the missed screen immediately.

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~Procedure~
Orientation of Staff
1. All appropriate staff involved in the newborn screening process will
receive education by reviewing the resources available and
completing training for NBS blood spot collection.
2. Staff will receive on-going education regarding the NBS.

Newborn Screening (NBS) – Blood Spot

Refer to the WVSUMC Newborn Screening Regulations.

1. Inform the parents/guardians of the NBS by discussing the process and

purpose of newborn screening with them and providing them with
the pamphlet “Iligtas ang inyong anak sa Mental Retardation” in
Tagalog, as appropriate. Brochures can be ordered from West Visayas
State University Medical Center, E. Lopez St., Jaro,, Iloilo City, 5000 Iloilo
2. Enter the lab order for the Newborn Screen and obtain labels.
3. Obtain the NBS filter paper with mother’s full name. Check the NBS
filter paper to ensure the expiration date has not passed.

4. Prepare the site and collect the blood spot specimen:

a. Wash hands vigorously.
b. Confirm identity of infant.
c. Warm site with commercial heel warmer or warm, moist cloth –
not to exceed three minutes.
d. Wearing powder-free gloves, cleanse infant’s heel with

appropriate antiseptic solution indicated for infant’s gestational

age.
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e. Allow heel to air dry completely.

f. To obtain sufficient blood flow, puncture the infant’s heel at the

most medial or lateral portion of the planter surface of the heel

with a sterile lancet or heel incision device.

g. Gently wipe away first blood drop with sterile gauze pad. Allow

another LARGE blood drop to form.

h. Lightly touch filter paper to LARGE blood drop. Allow blood to

soak through and completely fill circle with SINGLE application

of blood. (To enhance blood flow, apply GENTLE intermittent

pressure to area surrounding puncture site). Apply blood to one

side of filter paper only and ensure the blood soaks through the

paper to the other side before moving on to the next filter paper

circle. Do not contaminate the filter paper by touching the

specimen or the preprinted circles with your fingers.

i. Although not the preferred method, applying blood collected in

a sterile/clean nonheparinized tube onto the preprinted circles

of the filter paper is an acceptable alternative to applying the

blood directly from the heel puncture site.

j. Fill remaining circles in the same manner. If blood flow is

diminished, repeat heel stick. After the specimen is collected,

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elevate the infant’s foot and, using sterile gauze, briefly apply

gentle pressure to the puncture site until the bleeding stops. Do

not apply adhesive bandages.

k. Blood spots must air-dry horizontally on a nonabsorbent open

surface for at least three to four hours at ambient temperature

and away from direct sunlight and moving sources of air. Blood

spots on the filter paper should not be heated, stacked, or

allowed to touch other surfaces during the drying process.

l. To assist in the drying process, use the protective cover by simply

elevating the filter paper to gently rest on the edge of the

protective cover.

m. After drying, the protective cover should be placed over the

blood spots to prevent contamination.

n. To avoid cross-contamination, do not allow filter paper blood

spots to come into contact with each other.

5. Completed NBS filter paper kits will go to the lab, or courier pick-up
location, after drying is complete.

6. Ensure all fields on the NBS filter paper are completed.

a. Verify the mother’s address.

b. Verify the infant’s planned health care provider.

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i. Planned healthcare provider must be listed.

ii. Failure to list the planned health care provider can delay

follow-up and diagnosis of affected infants.

iii. Advise parents on the importance of having an accurate

planned healthcare provider listed on the NBS filter paper in

the event that follow-up is indicated during screening of the

blood spots.

iv. Instruct the parents to contact the NBS Program at 405-271-

6617 if the planned health care provider changes.

v. If the provider is out of the area and you do not have an ID

number, put the complete name and phone number if

possible. If the provider’s name is common, include the town

where the provider is located.

c. The “Submitting Health Provider” section is for the hospital ID. Do

not list the hospital in the “Infant’s Provider or Physician’s Name”.

d. Complete the Hearing Risk Status section by placing a check mark in

the box of all items that applies to the infant. The first question about

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familial hearing loss is to be asked of the birth mother. Information for

the other indicators should be available in the infant’s chart.

e. Review and distribute the pink (hearing screen) and blue (blood spot

screen) education slips attached to the NBS filter paper to the

mother/family. Review the process for the parents to obtain results of

the NBS. Stress the importance for the parents to obtain screen results.

f. Upon discharge, place the completed yellow copy of the NBS filter

paper in the newborn’s chart.

7. If a parent/guardian refuses to have the NBS blood spot collected:

a. Ensure the parents fill out and sign a Refusal Form;

b. Fax a copy of the Refusal Form to the NBS Program at 405-271-

4892;

c. Place a copy of the Refusal Form in the newborn’s chart/medical

record.
d. Fill out the demographic section of a NBS filter paper and mark the
appropriate “Refused” box before submitting it to the NSCV-WVSUMC

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Blood Specimen Collection and Handling

Procedure

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Filling out of NBS Filter Card

1. Use black or blue ball pen

2. Fill out all items legibly and completely.

3. All of the information on the filter card is important for the

interpretation of results and are critical for the immediate recall of

patients with abnormal values

Filter card information

1. Test Card ( initial sample or repeat sample)

2. Baby’s Last Name (mother’s surname)

3. Mother’s First Name ( mother’s first name)

4. Date of Birth (day/month/year –ddmmyy)

5. Time of Birth (hour/minute –hhmm) AM or PMSex (M-Male ; F-

Female; A- Ambiguous Genitalia)

6. Birth Wt. (gms)

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7. Date of Collection ( day/month/year -ddmmyy)

8. Time of Collection (hour/minute -hhmm) AM or PM

9. Age of Gestation (weeks)

10. Specimen (1-heel /2-cord /3-venous)

11. Feeding (1-breast/ 2 lactose formula/ 3 soy/lactose free..etc…)

12. Hospital/Place of Collection (Do not write anything on this

portion- this is already stamped with the facility code!

13. Hospital/Place of Birth

14. Attending Practitioner

15. The Practitioner (Doctor/Nurse/Midwife/Others)

16. Practitioner’s Day Contact Number

17. Practitioner’s Mobile Number

18. Baby’s Status (0-normal/ 1-sick/ 2-premature etc…

19. Name of Parent/Guardian

20. Number and Street

21. Barangay/City

22. Province Zip code

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~Resources~

1. West Visayas State University Medical Center, E. Lopez St., Jaro,,

Iloilo City, 5000 Iloilo

2. Newborn Screening Kit

3. Pamphlet – Protect your Baby from Hidden Disease (English and

Tagalog) ordered from West Visayas State University Medical

Center, E. Lopez St., Jaro,, Iloilo City, 5000 Iloilo.

4. Newborn Screening Today – PerkinElmer, Inc. 9920 winter, MA

0292592 USA. www.perkinelmer.com

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