Friday, December 14, 2018

Screening the new born, starting a healthy new life

Dr. Carmencita David-Padilla, founding president of the Newborn Screening Society of the Philippines and the current chancellor of UP-Manila

THE birth of a baby is a sign of a human life that is about to begin. In every hospital delivery room, the beauty of a new life unfolds when the infant is cleaned, wrapped and placed on the mother's breast for the first suck of milk.

But not every beginning of a new life plays out like this scene. Some babies are born with maladies. Some babies are born under poor and unsanitary conditions and, in some situations, traditional but unhealthy practices. Both settings may set off their beginnings differently.

The reality of gloomy childbirths can be altered, however, to that which can determine a new human being's readiness for the world; for there is nothing more precious than being given a clean bill of health in the first few days of a delicate new life.

In the last 14 years, births in the Philippines have seen better conditions since the introduction of newborn screening through the enactment of a law on April 7, 2004 that require hospitals, lying-ins, rural health units, health centers and private clinics to screen every newborn of possible disorders that may not be physically visible.

Newborn screening

The Republic Act 9288 also known as the Newborn Screening Act of 2004 defines and promulgates a comprehensive policy and a national system for ensuring newborn screening and sought the establishment and accreditation of Newborn Screening Centers (NSC).

Newborn screening (NBS) is a simple procedure to find out if an infant has a congenital metabolic disorder that may lead to mental retardation or even death if it is not detected and treated early. It is crucial because most babies may look normal at birth. But by doing NBS, metabolic disorders or ailments involving the chemical processes of the body may be detected even before the manifestation of clinical signs and symptoms. This way, the baby can be cared for early to prevent the consequences of untreated conditions.

NBS requires every newborn, or a child from the time of complete delivery to 30 days old, to undergo a screening process that is ideally done immediately after 24 hours from birth. The procedure entails collecting a few drops of blood taken from the baby's heel, also called the heel-prick method, by any physician, nurse, medical technologist or trained midwife, and blotted on a special absorbent filter card.

The blood sample is sent to the Newborn Screening Center (NSC) that will perform a biochemical testing to determine if the newborn has a heritable condition, a condition that came from the genes of either or both biological parents and that can result in mental retardation, physical deformity or death if is not detected early and untreated.

The disorders tested for screening are:

1. Congenital hypothyroidism or inadequate thyroid hormone production due to an anatomic defect in the gland either from thyroid metabolism or iodine deficiency.

2. Congenital adrenal hyperplasia resulting from mutations of genes for enzymes from cholesterol in the adrenal glands.

3. Galactosemia, a result of compromised ability to metabolize the sugar galactose in the blood.

4. Phenylketonuria that results in decreased processing of the amino acid phenylalanine during metabolism that can lead to intellectual disability, seizures, behavioral problems and mental disorders.

5. Glucose-6-phosphate-dehydrogenase deficiency that impairs the functioning of red blood cells and can cause hemolytic anemia or low blood cells.

6. Maple syrup urine disease, named due to the distinctive sweet odor of the affected infant's urine prior to diagnosis and during acute illness caused by the excretion of urine with elevated contents of organic compounds containing carboxylic acids.

Presently, there are six operational NSCs in the country located in the National Institutes for Health (NIH) at the University of the Philippines Manila; one in Batac City, Ilocos Norte for Northern Luzon, one in Angeles City, Pampanga to cover Central Luzon and in Tanauan City, Batangas for Southern Luzon. There is also one each in the West Visayas State University Medical Center in Iloilo City and in the Southern Philippines Medical Center in Davao City.

The law required that NSCs are equipped with a newborn laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall and follow-up programs for newborns with heritable conditions.

At the center of all NSCs' efforts and operations is the Newborn Screening Reference Center (NSRC) which defines testing and follow-up protocols on newborn screening, oversees the national testing database, case registries and the content of educational materials, assists in training activities in all aspects of the program, maintains an external laboratory proficiency testing program.

The origin

Newborn screening started as an academic research by Dr. Carmencita David-Padilla, founding president of the Newborn Screening Society of the Philippines and the current chancellor of UP Manila, the UP system's health sciences campus.

"The beginnings of that law started with my research in 1996 about examining infants as soon as they are born so that we can determine if they have health problems from the very beginning," Padilla said.

Padilla led the research with a group or pediatricians and obstetricians from 24 hospitals in Metro Manila who gathered data to formulate a NBS program and raised the possibility of legislation for it.

The medical experts in what became known as the Newborn Screening Study Group first looked into the incidence of the six metabolic conditions on infants to anchor their study on the need for screening by medical professionals and health institutions with birthing facilities and to recommend newborn screening to be done across the country.

Shortly before year 2000, the Department of Health (DOH) formally acknowledged the group's research study and included newborn screening in its program Children's Health 2025 that campaigned for the promotion of the rights of Filipino children to safe health and survival interventions and to child development and protection from 2000 to 2025.


After getting enough data and drawing protocols, Padilla drafted the legislative measure and asked senators friendly to health issues such as the late health secretary and Senator Juan Flavier and Loren Legarda to sponsor the bill.

She also sought the support of the Philippine Council for Health Research and Development in establishing the data for newborn screening.


Since 1996 when the research began and after the six operational NSCs were established, the movement expanded to 24 pilot hospitals that increased to 6,411 centers and facilities, of which 1,337 are offering expanded NBS services that increased the screening panel of disorders from six to 28 to ensure that newborns have better quality of life through early diagnosis and early treatment.

Expanded NBS, which was approved by the DOH in 2013, increased the number of disorders to be tested on a newborn still using the heel-prick method but applying different laboratory testing methods from the first six metabolic illnesses to 28 additional disorders under various groups of conditions such as disorders of amino acid and organic acid metabolism, disorders of fatty acid oxidation, disorders of carbohydrate metabolism, disorders of biotin metabolism and cystic fibrosis and hemoglobinopathies. In 2017, the government accredited 1,553 new health facilities offering expanded screening services.

Padilla said the services and the campaign have progressed well in the healthcare system even if the Philippines is actually 40 years behind in implementing the program compared with other countries.

"In many countries, newborn screening is a sign that the healthcare system is attentive to children. I thought about bringing that up in the Philippines because it is the duty of the state to include the rights of children to survival and full and healthy development as normal people," she said.


At present, Padilla said campaigning for and promoting NBS is needed more than ever because there are medical institutions that have yet to adopt NBS and make it mandatory and many Filipinos are not yet aware of the benefits of this health service.

She said the work of the Newborn Screening Group has not stopped with the enactment of the law, expansion of the services and increase in the medical facilities offering the services because there is a need to also widen the stakeholders who have huge responsibilities on children's health such as parents and organizations of women, mothers, midwives and community leaders.

"We have gathered testimonials from the babies we have screened many years ago, and they are college students now," she said. "But as we are happy to see that they have become normal and healthy grown-ups, we need to bring more awareness to individual Filipinos."

The first step, she said, is for healthcare facilities to make NBS mandatory, as all the programs and protocols show that it is essential.

The second is to promote awareness and increase the number of newborns to be screened in communities. Third is to let prospective parents know about the benefits of the services.


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