Newborn Screening

Newborn Screening is a quick blood test used to identify potential genetically-inherited diseases before serious symptoms begin.

The aim of newborn screening is to give these babies a chance to live a normal life, because early detection gives doctors the opportunity to treat diseases early.

Some of the conditions included in Newborn Screening

• Congenital Hypothyroidism (CH) - one of the most common inborn metabolic disorders. CH happens because of the lack or absense of the thyroid hormone, which is needed for the growth of the brain and body. If CH is not detected and hormone replacement is not started within four weeks, a baby's growth will be stunted. There is also the risk of loss of IQ points, and possible mental retardation.

• Congenital Adrenal Hyperplasia (CAH) - CAH is a rare yet dangerous inborn metabolic disorder. If not detected early enough, babies might not survive beyond 14 days after being born. CAH causes severe salt loss, dehydration, and abnormally high levels of male sex hormones in both boys and girls.

• Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) - G6PD Deficiency, or the lace of the enzyme G6PD makes babies prone to hemolytic anemia (after exposure to oxidative substances in some drugs, foods, or chemicals). Among the possible effects are: severe anemia, kernicterus.

• Galactosemia (Gal) - Gal is a condition where babies are unable to process galactose, a certain part of milk. As galactose builds up to excessive levels, a baby might suffer liver damage, brain damage, or may even get cataracts.

• Phenylketonuria (PKU) - PKU is a rare condition where a baby is unable to properly use phenylalanine, a building block of protein. If too much phenylalanine accumulates in the blood, the baby may suffer brain damage.
  

What's the whole point of newborn screening?

Well, babies might look normal. There's no way to tell if your baby is suffering from CH, CAH, G6PD, Gal, or PKU by simply looking at your child. By the time the actual symptoms appear, it may be too late to help your child.

Ideally, this should be done two days after birth.

How is screening done?

Newborn Screening will require a few drops of blood from your baby. Relax, they will draw if from your child's heel. The blood sample is placed on a special filter paper card, and is sent to the Newborn Screening Laboratory once it is dried.

When will the results be available?

The official results of newborn screening will be released to the hospital where the tests were done, and will be available in 4 to 8 weeks. If your baby was born in The Medical City, you may ask for the results from the attending pediatrician's clinic.

My baby tested positive for the screening... What happens now?

Try to calm down, because a positive result does not automatically mean your baby has any of the five disorders. Additional tests will still have to be done to confirm the diagnosis.

A negative screen, on the other hand, means that the result of the test is normal and your baby is not suffering from any of the disorders being screened.

(Strange... if the results will be ready in 4-8 weeks, and if additional tests will still be needed, what happens to babies suffering from CAH? What's the point of early detection then?)

Where is newborn screening available?

Newborn screening is available in participating health institutions including The Medical City and its TMC satellite clinics in: Antipolo, Cainta, Congressional, Fairview, Marikina, Pasig.

[ First posted on 12/16/2009 by Manuel Viloria ]