Importance of newborn screening

EVEN in this times where technology has grown by leaps and bounds, most parents take a complacent if not a resigned accepting attitude to the baby or the newborn, "given to us by God." Frankly, there's nothing wrong with that because it speaks of a grateful, thankful heart because a child is always a bundle of joy not for the parents but to the entire clan.

However, sometimes, fate can play a joke and that newborn might just have one of the so-called metabolic disorders.

In biochemistry, these diseases are aptly called inborn errors of metabolism in which a certain substance in the body, usually an enzyme, thus resulting either an excessive accumulation of a particular substance which then destroy the cells or organs in the body, or there would be a significant deficiency of a specific substance very useful in the normal functioning of an organ.

In the Philippines, the government health system screens five potential life-threatening disorders; congenital hypothyroidism that could lead to cretinism or hypothyroidism in children, congenital adrenal hyperplasia, phenylketonuria, galactosemia and deficiency of the enzyme glucose 6 phosphate dehydrogenase (G6PD). The good news is shared by Dr. Carmencita Padilla, chair of the Department of Pediatrics of the Philippine General Hospital, "from the basic five tests, the newborn screening will expand its coverage to 28 disorders within 10 years. The new testing technology will not alter the way samples are collected now, which is to get 3 samples in one newborn screening filter paper. The difference lies in the number of metabolites or diseases that can be analyzed by the machine. Dr. Padilla adds, "We have a lot of abnormalities in hemoglobin, many fatty acid disorders, even cystic fibrosis. Newborn screening is a universally accepted public health program aimed at the early identification of the infants who are affected by certain genetic, metabolic or infectious conditions. In preparation for the expansion, regional and provincial medical center follow up clinic will be established, laboratory facilities will be upgraded and staff will be retained to undergo seminars and lectures. A biochemical genetics reference laboratory will be established at the national Institute of Health at the University of the Philippines Manila while endocrinology confirmatory laboratories will be set up in private as well as government laboratories. We hope that soon, all systems go for the expanded newborn screening for our children. After all, as Rizal said, "the youth is the hope of the fatherland."