Dumaguing: Importance of newborn screening

THIS issue may be a tad late, because November is National Children's Month, as mandated by law, and we join the Department of Health in promoting its advocacy for more newborn screening called NBS with the primary purpose of detecting metabolic disorders early on hat could lead to mental retardation and debilitating illness.

The standard NBS covers six disorders which include congenital hypothyroidism, congenital adrenal hypoplasia, galactosemia, phenylketonuria - the most common inborn error of protein metabolism PKU; maple syrup urine disease and G6PD or glucose 6 phosphate dehydrogenase enzyme deficiency. The expanded NBS program covers the usual standard NBS, abnormalities of hemoglobin, amino acid disorders and abnormalities in fatty acid oxidation. Children or infants really look normal upon birth. The NBS detects those which cannot be seen by the naked eye but established by just a drop or couple of drops of blood.. Children with congenital hypothyroidism also called cretinism looks normal upon birth but when left unattended after one week, the Intelligent quotient IQ, decreases significantly. Other findings would be weak soft muscles. The underdevelopment( hypoplasia) of the adrenal glands involves a defect in enzymes that regulate sugar and electrolyte especially sodium and potassium. Moreover, the private parts of the infant may not develop thus making it difficult to determine whether it's a boy or girl. In galactosemia, there is an excessive amount of the sugar galactose, which comes from the digestion of lactose- the sugar in milk; The child may not have the enzyme to digest galactose; they develop cataract at an early age and eventually become blind.

Part of the information drive is the cost of these screening procedures' with the standard NBS costing 550 pesos while the expanded protocol costs 1500 pesos. Good news, the Philippine Health Insurance (Philhealth) covers up to 550 pesos.. To be able to catch these disorders, it is strongly advised that children are supposed to be screened up to one week after birth.

Admittedly, much as the health authorities are very enthusiastic and passionate about the implementation of the screening program, there are stumbling blocks to overcome like lack of Philhealth coverage as with the case of mothers, increased teenage pregnancy, insufficient amount of NBS kits. However, there is no let up, even just for the increased dissemination of information about the importance of newborn screening so that hopefully, we have a healthier crop of young Filipinos head to head with other people in this world to take on the challenges of life!

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