DOH advocates for increased newborn screening

The blood of a two week-old infant is collected for a Phenylketonuria, or PKU, screening. (Photo by U.S. Air Force photo/Staff Sgt Eric T. Sheler – USAF Photographic Archives (image permalink), Public Domain)

ILOILO CITY— The Department of Health (DOH) here is calling on parents to have their children undergo the newborn screening (NBS) program for early detection of disorders that can lead to mental retardation and death.

Dr. Reynilyn Reyes, DOH head of family, health and nutrition cluster in Western Visayas said Thursday that the NBS program is not screening alone. “It is a system that screens children, evaluates, follows up and gives diagnosis. The most important is that they are being managed when found positive,” she said.

The standard NBS covers six disorders but the expanded one can detect up to 28 disorders. The standard NBS disorders include congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), galactosemia (GAL), phenylketonuria (PKU), maple syrup urine disease (MSUD) and glucose-6-phosphate-dehydrogenase deficiency (G6PD Def).

The expanded covers standard NBS, hemoglobin-pathies, amino acid disorders, organic acid disorders and fatty acid oxidation disorders.

“We wanted to delay or reduce developmental delays among children,” Reyes said.

DOH data revealed that as of July 2017, there were 379 positive cases in Western Visayas. The highest came from Negros Occidental with 158 and Iloilo with 111. There were 27 in Aklan; 51, Capiz; 23, Antique and nine in Guimaras.

“These children really look normal upon birth. The newborn screening detects those that cannot be seen by the naked eye by just a drop or couple of drops of blood,” Reyes said.

The G6PD Def has thousands of positive cases, she added. Other positive disorders are CH with 314; CAH with 34 and GAL with 17.

The child with CH looks normal upon birth but when left undetected after one week, the intelligent quotient (IQ) of the child diminishes. Their muscles are also weak, she explained.

The CAH is a defect on enzymes that regulate electrolyte and sugar in the body. This may cause death of the child. Also, the private part of the child will not develop, thus there is difficulty in determining whether it’s a boy or a girl.

GAL also lacks enzymes that will make it difficult for the child to digest protein. Reyes said that a child with GAL becomes blind due to cataract.

G6PD Def is the lack of enzymes that may cause anemia.

The expanded NBS has detected nine positive cases of hemoglobin-pathies and one each for organic acid disorders and fatty acid oxidation disorders, which could mean that it is “alarming.” Possibly children whose cause of death was undetected could be due to these very rare disorders, she said.

The standard NBS costs PHP550 while the expanded NBS is PHP1,500. The Philippine Health Insurance Corporation (PhilHealth) covers up to PHP550.

Children are supposed to be screened 24 hours up to one week after birth.

However, Reyes said that the NBS coverage is low. In 2016 around 110, 520 children were screened, around 50 percent of the number of live births for the year.

“We need more advocacy telling them of the importance of screening,” she said.

She cited that among the challenges the NBS program is facing are the lack of PhilHealth coverage as with the case of mothers, increased teenage pregnancy and even lack of kits for the NBS as part of operational issues. (PNA)