Newborn Screening

Posted Aug 28, 2009 by auntiedoc / comments 0 comments / Print / Font Size Decrease font size Increase font size

Newborn Screening is an important test to check for congenital metabolic disorders.

Newborn Screening is simple test done in the hospital prior to your baby's discharge. This is a test to determine if your child has a congenital metabolic disorder or "inborn error of metabolism" which may not be apparent at birth. Some may be fatal and some may cause mental retardation.

A heel prick is done and actually 4 drops of blood are needed to be placed on a special absorbent filter card. It is dried and then sent to a Newborn Screening Center. A negative result means that the newborn screening is normal. A positive result means that your baby has a possibility that he has the disease and that it is important to go to the Newborn Screening Center for the confirmatory tests. The results are released within a week if your child tested positive. The parents are notified immediately by phone call. On the other hand, it takes a month for the written results to come out if your baby tested negative.

In the Philippines, the following are being tested in the Newborn Screening: congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria and glucose-6-phosphate-dehydrogenase (G6PD) deficiency.

In congenital hypothyroidism, there is absence of the thyroid hormones. If this is not detected early, this may cause stunted growth and mental retardation.

In congenital adrenal hyperplasia, there is severe salt loss and dehydration which may be fatal to newborns.

In galactosemia, there is accumulation of excess galactose in the body which results to cataracts, liver and brain damage.

In phenyketonuria, there is accumulation of phenylalanine which causes brain damage.

In G6PD deficiency, babies develop hemolytic anemia when they are exposed to certain drugs, food or chemicals.

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