Newborn Screening

What is Newborn Screening?

Newborn screening is a simple blood test used to identify many inherited diseases before serious or life-threatening symptoms begin. The goal of newborn screening is to give all newborns a chance to live a normal life. It provides the opportunity for early treatment of diseases that are diagnosed before symptoms appear.

What are the conditions included in Newborn Screening?

The panel of the Philippine Newborn Screening Program is five disorders:

1. a.      Congenital Hypothyroidism (CH)

CH is the most common inborn metabolic disorder. CH results from lack or absence of thyroid hormone which is essential for growth of brain and body. If the disorder is not detected and hormone replacement is not initiated within 4 weeks, the baby’s physical growth will be become severely mentally retarded

1. b.      Congenital Adrenal Hyperplasia

CAH is a rare but dangerous inborn metabolic disorder. This causes several salt loss, dehtdration and abnormally high levels of male sex hormones in both boys or girls. Of not detected and treated early, babies may die within 7-14 days.

1. c.       Glucose-6-Phosphate Dehydogenase Deficiency (G6PD)

G6PD Deficiency is a condition where the body lacks the enzyme called G6PD. Babies with this deficiency are prone to hemolytic anemia resulting from exposure to oxidative substance found in drugs, food, and chemicals.

1. d.      Galactosemia (Gal)

Gal is a condition in which babies are unable to process certain part of the milk called galactose. Accumulation of excessive galactose in the body can cause many problems, including liver damage, brain damage and cataracts.

1. e.      Phenylketonuria (PKU)

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

Why should my baby undergo newborn screening?

Most of the babies affected with any of these conditions appear perfectly healthy or normal at birth. This is why it is difficult for physicians to diagnose these conditions at birth. By the time doctors are able to recognize and identify the disorder, irreparable damage to the baby has already taken place. The babies will be mentally retarded or in worst cases, may even die. Newborn Screening is important in detecting these disorders in life so that management could be instituted immediately.

Should I still have my baby screened even if we don’t have any history if inherited disorders I the family?

Yes. There are affected children who are born from healthy families without any history of inherited disorders. By having each and every baby undergo newborn screening, we minimize the chances of not being able to identify newborns that are affected with any of the five disorders.

How are the tests done?

The Newborn Screening test is done by collecting a few drops of blood from the baby’s heel. Ideally, newborn screening should be done two days after birth or before discharge from the hospital. The blood sample is placed on a special filter paper card. Once it is dried, it is sent directly to the Newborn Screening Laboratory.

How will I know the results of the tests?

Results of newborn screening are released to the hospital where the test was done.

How soon will the results be available?

Official results of the Newborn Screening will be available in 4-8 weeks. For babies born at The Medical City, results can be obtained from the attending pediatrician’s clinic on follow-up visits. For babies born outside The Medical City, results can be obtained from the referring doctor’s clinic or from The Medical City’s Newborn Screening Coordinator during the office hours.

What does it mean if my baby tested positive for the screening?

A positive screen does not necessarily mean that your baby absolutely has any of the five disorders. Further tests will still be needed to confirm the diagnosis. The hospital where the blood sample was taken or your baby’s doctor will be notified about the need for these additional tests as soon as possible.

Note: A negative screen means that the result of the test is normal and the baby is not suffering from ay of the five disorders bring screened.

Where is newborn screening available?

Newborn screening is available in participating health institutions including The Medical City and its satellite clinics in:

• Antipolo                                • Congressional

• Pasig                                     • Fairview

•Marikina                               • Cainta

- FOR DOCTORS –

Key Highlights of Rules and Regulations Implementing RA 9288

Section 2: The National Comprehensive Newborn Screening System shall ensure that every baby born in the Philippines is offered the opportunity to undergo NBS and be spared from heritable condition that can lead to mental retardation and death.

Section 6: Obligation to inform. Any health practitioner who delivers, or assists in the delivery of a newborn in the Philippines shall follow the DOH prescribed guidelines on notification and education relative to the obligation to inform. The health practitioner shall maintain documentation in the patient’s record that NBS information has been provided.

Section 7: Performance of NBS, NBS shall be performed after twenty-four (24) hours of life but not later than three (3) days from complete delivery of the newborn.

Section 13: The DOH shall be the lead agency for implementing the National Comprehensive Newborn Screening System.

Note:   This information is not intended to be used as a substitute for professional medical advise, diagnosis or treatment.   If you or someone you know have any of the symptoms mentioned above, it is advisable to seek professional help.

For more information, please call:

CENTER FOR PATIENT PARTNERSHIP

Tel. No. (632) 988-1000 / (632) 988-7000 Ext. 6444