MEDICINE CABINET
REINER W. GLOOR
NEWBORN screening (NBS) is very important and as such Presidential Proclamation No. 540 designates the first week of October of every year as National Newborn Screening Week. The public health advocacy and campaign is led by the Department of Health (DoH) and the Institute of Human Genetics of the UP National Institutes of Health (IHG-NIH). The Newborn Screening Reference Center (NSRC) has been set up as part of the IHG-NIH.
The NSRC provides technical assistance to the DoH-NIH and their partners or network members to attain the objective of screening Filipino newborns.
Similarly, the NSRC assists in providing information and resources to help interested health professionals, public health community, consumers, and government officials in the field of newborn screening.
NBS is important as it establishes if an infant has a congenital metabolic disorder which may lead to mental retardation or even death, if left untreated. A baby may appear to look “normal” immediately after delivery.
However, he or she may, in reality, have metabolic disorders. Should the diagnosis indicate the infant has metabolic disorder then this would require immediate medical attention which can be given even before the clinical signs and symptoms of certain diseases present themselves.
The NBS is a simple procedure and should be done within 24 hours of the delivery of the infant. Just a few drops of blood from the baby’s heel taken by a doctor, nurse, medical technologist, or a trained midwife can yield results. The blood drops are blotted on a special absorbent filter card, and then forwarded to the Newborn Screening Center (NSC) for analysis. Results of newborn screening may be claimed from the health facility where the screening was done normally within seven to 14 working days, from the day the samples were received by the NSC. NBS is usually available in hospitals, lying-in facilities, rural health units, health centers, and several private clinics.
Note that a “negative screen” means that the NBS results are normal and positive NBS results mean that the newborn must be brought again to a health professional for further testing. The positive screen results are immediately forwarded to the parents or caregivers by health facility personnel and should be immediately referred to a specialist for confirmatory testing and further medical management. If and when there are no specialists in one locale, the NBS secretariat office will be able to assist an attending physician.
The NBS can test for disorders including congenital hypothyroidism;
congenital adrenal hyperplasia; galactosemia; phenylketonuria; Glucose-6-Phosphate-Dehydrogenase Deficiency; and Maple Syrup Urine Disease. These can all be treated with proper medical care and a health care professional would be in the best position to explain the diagnosed disorder and corresponding course of treatment.
Newborn Screening is now included in the PhilHealth Newborn Care Package and therefore there should be no more questions as to cost and who is going to pay for it.
One word of advice: please make sure that an accurate address and correct phone numbers are properly provided to the health facility.
In summary, the NBS find out developmental, genetic, and metabolic disorders in an infant. This screening allows measures to be taken before any symptoms develop. Most of these illnesses are very rare, but can be treated if caught early.
On top of the NBS, a health professional may recommend a hearing screen. It is advisable to have babies screened for hearing problems, too.
Log on to www.phap.org.ph and www.phapcares.org.ph. E-mail the author at reiner.gloor@gmail.com.