LEGAZPI CITY — As the country observed recently the National Newborn Screening Week (every first week of October), the Department of Health in Bicol (DOH-5) urged parents to have their newborn babies undergo a screening that covers 28 rare diseases.

Newborn screening is a procedure intended for early identification of infants who are affected by certain genetic, metabolic, or infectious conditions that may lead to mental retardation or death if left untreated.

“To save more babies, the Department of Health Advisory Committee on Newborn Screening has approved the implementation of the expanded newborn screening, which now includes hemoglobinopathies and additional metabolic disorders,” Twinkle Jean P. Lorilla, Newborn Screening (NBS) Program coordinator for DOH-5, said.

When NBS was introduced in the country in 1996, the program only covered screening of six disorders: congenital hypothyroidism, congenital adrenal hyperplasia, phenylketonuria, galactosemia, glucose-6-phosphate dehydrogenase deficiency, and maple syrup urine disease.

The NBS has been expanded to include 22 more disorders such as hemoglobinopathies, disorders of amino acid and organic acid metabolism, disorders of fatty acid oxidation, disorders of carbohydrate metabolism, disorders of biotin metabolism and cystic fibrosis.

Lorilla noted that the effects of these disorders such as mental retardation, anemia, stunted growth, cataracts and many more can be reversed if screened and treated on time.
“All babies look normal at birth. Babies having these disorders cannot be identified by physical examination,” she said. “One will never know that the baby has the disorder until the onset of signs and symptoms which may already be irreversible at the time of diagnosis.”

To avoid complications of the disorders, treatment must be instituted immediately, Lorilla added.

Newborn screening is available in hospitals, rural health units, health centers, and private clinics.

NBS is part of Philhealth’s newborn package. ENBS on the other hand costs P1,500 – P1,550, of which P550 will be shouldered by Philhealth and parents will pay the extra P1,000 charge.

Moreover, Lorilla said that the DOH is pushing for full inclusion of ENBS to the newborn package to benefit more babies and save more lives. However, screening must be done on time to prevent the negative effects of the disorders.

“A baby is best treated for congenital adrenal hyperplasia before the seventh day of life. If newborn screening is done one week after birth, the baby may already be in crisis and may die,” she said.

Once diagnosed, babies affected with the disorders are referred to specialists for long term care.

“With the establishment of the NBS continuity clinics, the patients diagnosed by the NSCs will be turned over to the NBS continuity clinics for long term care and monitoring. The network of NBS continuity clinics will definitely improve the quality of life for our diagnosed patients,” Lorilla said.

She likewise urged NBS centers to seek the assistance of DOH regional offices in case they encountered problem in recalling patients.

“Prompt recall of patient would mean prompt management of babies, thereby saving them from mental retardation and death. Lorilla said. (SAA-PIA5) Sally A. Atento