Newborn Screening

“Republic Act No. 9288 otherwise known as “Newborn Screening Act of 2004”, an act promulgating a comprehensive policy and a national system for ensuring newborn screening”

What is newborn screening? >Newborn Screening (NBS) is a simple procedure to find

out if your baby has a congenital metabolic disorder that may lead to mental retardation or even death if left untreated.

Why is it important to have newborn screening?

>Most babies with metabolic disorders look "normal" at birth. By doing NBS, metabolic disorders may be detected even before clinical signs and symptoms are present. And as a result of this, treatment can be given early to prevent consequences of untreated conditions.

When is newborn screening done?

Newborn screening is ideally done immediately after 24 hours from birth.

How is newborn screening done?

>A few drops of blood are taken from the baby's heel, blotted on a special absorbent filter card and then sent to Newborn Screening Center (NSC).

Who will collect the sample for newborn screening

>The blood sample for NBS may be collected by any of the following: physician, nurse, medical technologist or trained midwife.

Newborn Screening Centers The RA 9288 defines the establishment and accreditation of Newborn Screening Centers (NSC). Newborn Screening Center is a facility equipped with a newborn laboratory that complies with the standards established by the National Institutes of Health (NIH) Philippines, and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions. Presently, there are six operational NSCs in the country: 1. Newborn Screening Center - NIH at the University of the Philippines Manila 2. Newborn Screening Center - Visayas located at West Visayas State University Medical Center, Iloilo City 3. Newborn Screening Center - Mindanao located at the Southern Philippines Medical Center, Davao City 4. Newborn Screening Center - Central Luzon in Angeles City, Pampanga 5. Newborn Screening Center - Southern Luzon in Tanauan City, Batangas 6. Newborn Screening Center - Northern Luzon in Batac City, Ilocos Norte

NEWBORN SCREENING CENTERS

NEWBORN SCREENING PANEL OF DISORDERS (ROUTINE) 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.) (6) Maple Syrup Urine Disease (MSUD)

NBS Panel of Disorders : Congenital Hypothyroidism (CH)

>CH results from lack or absence of thyroid hormone which is essential for the physical and mental development of a child. If the disorder is not detected and hormone replacement is not initiated within two (2) weeks, the baby with CH may suffer from growth and mental retardation.

Congenital Adrenal Hyperplasia (CAH)

>CAH is an endocrine disorder that causes severe salt loss, dehydration and abnormally high levels of male sex hormones in both boys and girls. If not detected and treated early, babies with CAH may die within 7-14 days.

Galactosemia (GAL)

>GAL is a condition in which babies are unable to process galactose, the sugar present in milk. Accumulation of excessive galactose in the body can cause many problems, including liver damage, brain damage and cataracts.

Phenylketonuria (PKU)

>PKU is a rare condition in which the baby cannot properly use one of the building blocks of protein called phenylalanine. Excessive accumulation of phenylalanine in the blood causes brain damage.

Glucose-6Phosphate Dehydrogenase Deficiency (G6PD def)

>G6PD deficiency is a condition where the body lacks the enzyme called G6PD. Babies with this deficiency may have hemolytic anemia resulting from exposure to oxidative substances found in drugs, foods and chemicals.

Maple Syrup Urine Disease (MSUD)

>MSUD is a genetic metabolic disorder resulting from the defective activity of the enzyme branched chain alpha-ketoacid dehydrogenase complex. Accumulation of the branched chain amino acids are toxic to the brain.

What is expanded newborn screening?

>The expanded newborn screening program will increase the screening panel of disorders from six (6) to twenty-eight (28). This will provide opportunities to significantly improve the quality of life of affected newborns through facilitating early diagnosis and early treatment.

What is the difference between newborn screening and expanded newborn screening?

>The difference is the number of disorders each of them can detect. Both tests are performed by collecting a few drops of blood through the heel-prick method but the laboratory testing methods applied are different.

What are the additional disorders tested by expanded newborn screening?

>Aside from the six conditions in the present panel -- Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, Phenylketonuria, Maple Syrup Urine Disease and Glucose-6Phosphate Dehydrogenase deficiency -- expanded newborn screening will screen for additional disorders falling under various groups of conditions namely: hemoglobinopathies, disorders of amino acid and organic acid metabolism, disorders of fatty acid oxidation, disorders of carbohydrate metabolism, disorders of biotin metabolism and cystic fibrosis.

How much is the fee for newborn screening?

>Expanded newborn screening will be offered to you as an option in all newborn screening facilities. The first option is screening for the six disorders at ₱550, which is included in the newborn care package for PhilHealth members and the second option is screening for the full complement of 28 disorders at ₱1500.

Is expanded screening covered by PhilHealth?

>Currently, only P550 is covered by PhilHealth. If you are a PhilHealth member, and opt to have your baby undergo expanded newborn screening, you will pay the remaining cost which is P950.

Where is newborn screening available?

>Newborn screening is available in Hospitals, Lying-ins, Rural Health Unit, Health Centers and some private clinics. If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening.

When are newborn screening results available?

Results can be claimed from the health facility where NBS was availed. Normal NBS Results are available by 7 - 14 working days from the time samples are received at the NSC. *Positive NBS results are relayed to the parents immediately by the health facility. Please ensure that the address and phone number you will provide to the health facility are correct. *A NEGATIVE SCREEN MEANS THAT THE NBS RESULT IS NORMAL. *A positive screen means that the newborn must be brought back to his/her health practitioner for further testing.

What should be done when a baby is tested a positive NBS result?

>Babies with positive results must be referred at once to a specialist for confirmatory testing and further management. Should there be no specialist in the area, the NBS secretariat office will assist its attending physician.

DISORDER

Effect if NOT SCREENED

Effect if SCREENED and TREATED

CH (Congenital Hypothyroidism)

Severe Growth and Mental Retardation

Normal

CAH (Congenital Adrenal Hyperplasia)

Death

Alive and normal

GAL (Galactosemia)

Death or Cataracts

Alive and normal

PKU (Phenylketonuria)

Severe Mental Retardation

Normal

G6PD Deficiency

Severe Anemia Kernicterus

Normal

MSUD (Maple Syrup Urine Disease)

Death or Mental Retardation Alive and normal

Alive and normal

DISORDER

Effect if NOT SCREENED

Effect if SCREENED and MANAGED

ORGANIC ACID DISORDERS

Developmental delay Breathing problems Neurologic damage Seizures Coma Early death

Alive Most will have normal development with episodes of metabolic crisis

FATTY ACID OXIDATION DISORDER

Developmental and physical delays Neurologic impairment Sudden death Coma Seizure Enlargement of the heart & liver Muscle weakness

Usually healthy in between episodes of metabolic crises Alive

HEMOGLOBINOPATHIES

Painful crisis Anemia Stroke Multi-organ failure Death

Alive Reduces the frequency of painful crises May reduce the need for blood transfusions

AMINO ACID DISORDERS

Mental retardation Coma and death from metabolic crisis

Alive Normal growth Normal intelligence for some, learning problems to others

G6PD CONFIRMATORY CENTER

ADDRESS

COORDINATOR REGION I Myrna L.Rosario,RMT

1. Ilocos Training and Regional Medical Center

Parian, San Fernando City, La Union

2. Mariano Marcos Memorial Hospital and Medical Center

San Julian, Batac, Ilocos Norte

Allan L. Fellizar, RMT

3. Region 1 Medical Center

Arellano Street, Poblacion Oeste Dagupan City

Imelda A. Duque, RMT

4. Cagayan Valley Medical Center

5. Angeles University Foundation Medical Center

Mac Arthur Hi-way, Angeles City

6. Batangas Medical Center

Kumintang Ibaba, Batangas City

(072) 607-6422/ 607-6418 loc 159 077-6008000 loc 4113 or 1101

REGION II

#2 Dalan na Pagayaya Carir Sur, Tuguegarao City

CONTACT NUMBER

Corajane A. Tayaman, RMT REGION III Jesusa Sarmiento , RMT

REGION IV A Miriam E. Manalo, RMT

(075) 5158916 loc 145

(078) 302-000 (045) 6252999 loc 2888 ( 045 ) 625-2924 (043) 740 8303 740 8304 740 8307 loc 1099

7. Lipa Medix Medical Center

Ayala Highway, Balintawak, Lipa City

Isabelita M. Galac, RMT

(043) 756 2372

8. University of Perpetual Help Dr. Jose G. Tamayo Medical Center- Binan

National Highway, Sto. Niño, Biñan City, Laguna

Mary Joyce R. Antonio, RMT , MLS (ASCPi)

(049) 544 5150, 779 05310 09958439312

9. Luna Goco Medical Center

Lalud, Calapan City, Oriental Mindoro

10. Makati Medical Center

G/F Tower 2, No. 2 Amorsolo Street, Legaspi Village, Makati City

11. Manila Central University-Filemon D. Tanchoco Medical Foundation Hospital

EDSA Caloocan City

12. Our Lady of Lourdes Hospital

46 P. Sanchez St., Sta Mesa Manila

13. The Medical City

Ortigas Avenue, Pasig City, Metro Manila

14. University of Perpetual Help Dalta Medical Center

Alabang Zapote Rd. Pamplona, Las Pinas City

15. Dr. Pablo O. Torre Memorial Hospital

BS Aquino Drive, Bacolod City

Cristina B. De Rosales, RMT

NCR Krizza Allysa S. Cotingjo, RMT

( 043 ) 288 2473 09994132409

(02) 888-8999 loc 3028

Gloria B. Caling, RMT

(02) 363-3084

Agnes Larisma , RMT

(02) 716 3901 loc 3513 , 3390

Leilanie Soriano , RMT Divine Grace A. Gonzales, RMT REGION VI Monica B. Villanueva, RMT

(02) 635 6789 loc 6124 , 6122, 6227 (02) 874-8515 loc 153

( 034 ) 705 000 loc 3115 , 3116

16. Cebu Doctors University Hospital

Osmeña Boulevard Capitol Site, Cebu City 6000

17. Eastern Visayas Regional Medical Center

Magsaysay Boulevard, Tacloban City

Marmie Sesaldo , RMT REGION VIII Virgilio R. Hubilla Jr., RMT, MPH REGION IX

18. Brent Hospital

R.T. Lim Blvd. Zamboanga City

Ivy Joan Banguis, RMT

REGION 10

19. Cagayan De Oro Polymedic Medical Plaza

National Highway, Kauswagan, Cagayan De Oro City

Mary Roselyn L. Molina, RMT

20. La Vina General Hospital, Inc.

L. Alkuiro St. Valencia City, Bukidnon

Dick Jefferson C. Melitante, RMT

21. Mayor hilarion a. ramiro sr. regional training and teaching hospital

Maningcol, Ozamiz City

Jane B. Aranas , RMT

032 255-5555 loc 122 , 179

( 053 ) 832 0920 (062) 992 5996 loc 115

(088) 858-5858 loc 1080 /1083 (088) 828 5132, 828 6150 (088) 521 0440

REGION XI 22. Tagum Doctors Hospital 23. Davao Medical School Foundation, Inc.

Highway 5A Rabe Subd., Tagum City DMSF Drive, Bajada, Davao City

Genevive J. Landong, RMT

24. General Santos Doctors Hospital

National Highway, General Santos City

Riza S. Berenio, RMT

(083) 250

25. Kidapawan Doctors Hospital, Inc.

Kidapawan City

Jennylen Licudan, RMT

2777 (064) 577

Ma. Beatrice Pineda , RMT SOCCSKSARGEN

(084) 655 9297 (082) 227 9330 loc 1143

4480 l oc