UP Champions newborn screening in RP

article source:  http://www.malaya.com.ph/sep24/livi1.htm

BY MAE ASTRID TOBIAS 
A drop of blood can spell a huge difference for newborn babies. The Newborn Screening Act of 2004 (Republic Act 9288), which was jointly developed by the National Institutes of Health (NIH) of UP Manila and the Department of Health (DOH), institutionalizes the National Newborn Screening System which shall ensure that every baby born in the Philippines is offered the opportunity to undergo newborn screening, a simple blood test within 24 to 72 hours after the baby’s birth.

The newborn screening can identify heritable conditions that can lead to mental retardation and death if undetected and untreated. "We had the newborn screening done for my nephew and we found out that he has Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency," says Dr. Gladys Gadia-Tanangonan, a practicing obstetrician for the past three years. Members of her family always experienced feeling very tired and have been found to be anemic. Later, they discovered that this was because they had a strong history of G6PD deficiency. "When we found out, we made sure that our babies underwent newborn screening, especially the boys because the disorder is X-linked recessive."

Aside from the G6PD deficiency, the newborn screening test can also identify four more metabolic disorders namely Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia (Gal), and Phenylketonuria (PKU). Most of the babies affected with any of these conditions appear perfectly healthy or normal at birth. Without the newborn screening, it is difficult for physicians to diagnose these conditions at birth. By the time doctors are able to recognize and identify the disorder, irreparable damage to the baby has already taken place. The babies will be mentally retarded and in worse cases, may even die.

Janelle, 7, and JR, 14, both have congenital hypothyroidism but Janelle was screened as a baby and received immediate treatment. Today, she lives a normal life. JR, on the other hand, was not given the newborn screening test. He had no physical signs of any disorder at birth and was not treated immediately. Today, he has developed mental retardation due to his condition.
"An estimated 33,000 babies out of the 2 million born every year, are at risk of these life-threatening disorders," says according to Dr. Carmencita Padilla, director of the Institute of Human Genetics (IHG). IHG serves as the most advanced newborn screening testing center and serves more than 300 health institutions in the country.

Newborn screening is a simple procedure already practiced routinely in most developing countries. In the Philippines, it was introduced only in 1996 through a pilot study spearheaded by Dr. Padilla and Dr. Carmelita Domingo of the UP College of Medicine. Together with pediatricians and obstetricians from 24 hospitals, they formed the Philippine Newborn Screening Study Group, which gathered data and paved the way for the adoption of a national newborn screening program.

The test, costing only P550, requires a blood sample taken from the baby’s heel 24 to 72 hours after its birth. The sample, which is blotted on a special paper, is processed by a centralized testing center currently run by the NIH. The results are released within seven days. A negative screen means that the baby is normal. If the baby is found to be positive for any of the disorders, the parents will be informed and more tests will be conducted to confirm the results. Once confirmed, the baby will be referred to the proper physician or medical specialist for further treatment.

The Newborn Screening Act of 2004 requires health practitioners to inform expectant parents of the availability, nature, and benefits of newborn screening. It also requires all hospitals and birthing facilities to provide newborn screening services by 2006 and makes this mandatory for the issuance of licenses to hospitals and birthing facilities. Presently, only 400 out of the 1,700 hospitals and birthing facilities implement Newborn Screening.

The Newborn Screening Act of 2004 also mandates the NIH to create the Newborn Screening Reference Center (NSRC), which would be responsible for the national testing database and case registries, training, technical assistance, and continuing education for laboratory staff in all Newborn Screening Centers.