Author: Ma. Theresa Hilario-Jimenez, M.D.. GENERAL PEDIATRICS

Newborn screening is a vital tool that helps doctors identify rare but potentially serious conditions. By testing for certain conditions before obvious symptoms appear, early treatment can often be administered which can greatly improve the outcome for the child. In some cases, such as with life-threatening conditions, early detection and treatment can be literally a matter of life or death.

In this article

When the time is near for you to deliver your child, there are very important preparations that you should make. You prepare your room to make way for the crib, including all the trimmings that you think your child will be happy to see. You go shopping for clothes and imagine what your baby will look like in them. You make sure you have all the things that your child will need to be comfortable and grow as you would want him to grow. You get information from your mom friends as to what their experiences are to help you prepare for that exciting day. You read up and get to know the different tests that your child will need to make sure that he is healthy.

Your primary concern is to make sure that your child is normal, healthy, and is free from any diseases that will hinder his growth and development. One of these very important tests that your child will need before going home is the Newborn Screening. This is part of the Newborn Care Package that is offered by Philhealth, including newborn care, and newborn hearing test.

Certain diseases can mimic common diseases in the very early stages of your child’s life and are crucial to be detected very early to avert lifetime effects or even early death.

Newborn Screening in A Nutshell

Newborn Screening is a test done to detect congenital metabolic diseases before any symptoms or signs are seen. Since children born with these diseases appear normal at birth, it allows the condition to be identified and managed before any symptoms or problems occur.1,2 Because of the early detection, management can be started early, long-term care is prepared for by the parents, and the consequences of the disease, its long-term effects, and even death can be prevented.

This is not a test that is used to diagnose a condition but is used to identify those who might be at risk of having the condition. Once a probable condition is detected, a confirmatory test should be done to make sure that the child has that condition and management started early.3

Confirmatory Test: What is it and Why it’s Needed

Doctor discussing newborn screening results to mom

Photo by partystock from Freepik

Newborn screening will not give a definite diagnosis of the congenital condition your child might have. The results will indicate whether there is a probability that your child has the condition tested. When the result of the test is positive for any of the diseases screened in the Expanded Newborn Screening, a confirmatory test will give a definite diagnosis of whether the disease is present or not in the child.1 Confirmatory test is done at a specific confirmatory test facility in your area. Your health facility and your health care provider will advise you as to the nearest Confirmatory Testing facility you will bring your child. A confirmatory test should be done as soon as possible to start the management and you will be advised by a specialist for long-term management.

What is Expanded Newborn Screening?

At the start, there were only 6 congenital metabolic diseases tested. At present, there are 29 congenital metabolic diseases tested. With this increase in the number of tested diseases, it is now called Expanded Newborn Screening (ENBS).2 9

The test should be done at a particular time to get an accurate result. Expanded Newborn Screening is best done 24 to 48 hours after delivery. Timing is important because certain conditions may go undetected if the test is done before 24 hours of age.1

It is very important to do the screening before the child is sent home with you. There are, however, center conditions or situations when it should be delayed. Here are the conditions where Expanded Newborn Screening can be delayed:3

  1. premature birth
  2. the child was born low birth weight
  3. baby is sick
  4. blood transfusion was done

Expanded Newborn Screening and Autism Detection

There are a lot of metabolic diseases that are present. However, only the metabolic diseases that we are at risk of having, are included in the Philippines’ Expanded Newborn Screening. At present, there is no blood test in the Philippines that will detect autism.

Understanding Expanded Newborn Screening Procedure

This will be a little uncomfortable for the child, but only trained health personnel will do the test on your child. A few drops of blood are taken from the child’s heel and blotted on a special absorbent filter card.4 The blood should properly blot the filter card for an accurate result. This filter card is then sent to Newborn Screening Center (NSC). There are times when the test needs to be repeated. These are when the filter paper is contaminated, or when the blood is not enough to blot the filter paper correctly. A repeat test will ensure that the results you will get are accurate.

When will the results of the screening be available?

The results can be claimed in the health facility where you had it made. When the results are normal, meaning no possible congenital metabolic diseases are detected, the results are available 7-14 working days from the time the filter paper was received at the NSC. Positive results, meaning a possible specific congenital metabolic disease is detected, are relayed immediately to the parents by the health facility. You have to ensure that you provide the correct address and contact number to the health facility in order not to delay doing the confirmatory test.

My Child Tested Positive, What Now?

Mom thinking about newborn screening results

Photo by tirachardz from Freepik

If your child has a Negative Screen, this means that no congenital metabolic diseases were detected, and the ENBS result is normal. However, a Positive Screen for a particular congenital metabolic disease means that there is a possibility that your child has that particular congenital metabolic disease. The child must be taken to a facility where a confirmatory test can be done. A confirmatory test is done at a specific confirmatory test facility in your area. Your health facility and your health care provider will advise you as to the nearest Confirmatory Testing facility you will bring your child.

Once the confirmatory test is done, make sure to get the results and follow up with the specialist that will be given to you. The specialist will give you instructions and advice as to things you have to do to make sure your child grows healthy and normal. Make sure to inform your pediatrician about the results of the confirmatory test to ensure proper follow-up and long-term management of your child.

What if my child missed the Expanded Newborn Screening?

Here are the effects if a child has a particular congenital metabolic disease and is not screened and managed early: 4

Organic Acid Disorders
  • Developmental delay
  • Breathing problems
  • Neurologic damage
  • Seizures
  • Coma
  • Early death
  • Alive
  • Most will have normal development with episodes of metabolic crisis
Endocrine Disorders
  • Severe
  • Mental Retardation Death
  • Normal
  • Alive
Fatty Acid Oxidation Disorder
  • Developmental and physical delays
  • Neurologic impairment
  • Sudden death
  • Coma
  • Seizure
  • Enlargement of the heart and liver
  • Muscle weakness
  • Usually healthy in between episodes of metabolic crises.
  • Painful crises
  • Anemia
  • Stroke
  • Multi-organ failure
  • Death
  • Alive
  • Reduces the frequency of painful crises
  • May reduce the need for blood transfusions
Urea Cycle Defect
  • Seizure
  • Mental Retardation
  • Death
  • Alive
  • Normal Intelligence<.li>
Amino Acid Disorders
  • Mental Retardation
  • Coma and Death from metabolic crisis
  • Alive
  • Normal growth
  • Normal intelligence for some
  • Learning problems to others

Early detection and subsequent early intervention are important in any disease. This is particularly important for children with congenital metabolic disorders. Immediate and long-term management will help ensure that your child will grow up healthy and be able to reach their maximum potential. What are a few drops of blood compared to the lifetime benefit that Expanded Newborn Screening offers?

Mom playing healthy kid

Photo by tirachardz from Freepik

Management of congenital metabolic disorders does not end with screening, confirmatory tests, and advice from a specialist. Management will extend not only to your primary caregiver or your pediatrician but also to family members and your child as well as he will have to take care of his health as he grows older. Lifetime management is necessary for your child to continuously reap the benefits of Expanded Newborn Screening.


  1. Newborn Screening 101, available at Accessed on 23 October 2022
  2. DOH Newborn Screening Program, available at Accessed on 23 October 2022
  3. 8 Common Questions About Newborn Screening Tests, available at Accessed on 23 October 2022
  4. Newborn Screening Reference Center, available at Accessed on 23 October 2022