Newborn screening

From Wikihealth
Jump to: navigation, search
Newborn screening

Newborn screening (NBS) is the practice of testing a baby for potentially fatal disorders that may not be evident at birth. These congenital metabolic disorders could lead to mental retardation or death if not detected early. NBS helps detect disorders before they manifest so treatment can immediately be given. The earlier the detection, the higher the chances for a healthy and normal development.

Babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the onset of signs and symptoms and more often ill effects are already irreversible. The goal of newborn screening is to give all newborns a chance to live a normal life. It provides the opportunity for early treatment of diseases that are diagnosed before symptoms appear.

In the Philippine Pediatric Society (PPS) Policy Statements (Series 2004 Volume 1 No. 4), it said that screening for newborns for congenital disorders began in 1961 when Dr. Robert Guthrie designed an assay for the presymptomatic identification of patients with phenyketornuria (PKU) using dried blood absorbed into special filter paper. Newborn screening has since been a routine component of quality newborn care in the US. with newborn coverage of almost 100%. In the US, although it varies by state, newborn screening is done for some 40 different conditions that can result in death or severe disabilities if left undetected and untreated. In the Asia Pacific Region, Japan, Hong Kong, Taiwan, Thailand, Singapore, Australia and New Zealand have newborn screening coverage of almost 100% of babies.

In the Philippines, newborn screening was introduced in 1996. Two years later the Department of Health explored the inclusion of newborn screening in its child health programs; and in 2000, the DOH issued an Administrative Order stating that by 2004, newborn screening shall be a part of standard newborn care.

In 2004, Republic Act No, 9288 or the Newborn Screening Act of 2004, was enacted. This establishes a national comprehensive newborn screening system to ensure an integrative and sustainable implementation of the government's policy to protect and promote the right to health of the people, including the rights of children to survival and full and healthy development as normal individuals.

The law also mandates the National Institutes of Health (NIH) of the University of the Philippines Manila to create the Newborn Screening Reference Center (NSRC), a central facility that provides technical assistance to the DOH and NIH netwrok in reaching the ultimate goal of screening Filipino newborns for common life-threatening congenital metabolic disorders.

In October 2006, the Western State University Medical Center in Iloilo became the second newborn screening center in the country to conduct testing of blood samples from the entire Visayas and Mindanao area.

There is now a growing awareness on newborn screening and its benefits, but coverage of screened newborns remained low and wanting. The DOH is still hoping that every parent informed, every newborn screened, every health facility equipped and with health practitioner trained to provide newborn screening service.

Contents

Procedure

NBS is ideally performed when a baby is 24 to 48 hours old. A simple blood test is conducted by taking a few drops from a baby's heel. This is blotted on to a special filter paper and then turned over to a newborn screening laboratory. With this blood test, doctors can often tell which conditions a baby may suffer from. The blood sample can be collected by a physician, nurse, medical technologist or qualified midwife.

Results

Results can be claimed from the facility where the NBS was conducted. Negative NBS results are available 7 to 14 working days from the time the laboratory received the blood sample. Parents are immediately notified of the results only if the test result comes back abnormal.

Additional screenings and diagnostic tests are required for abnormal results to verify the disorder. Retesting is also requested if the blood sample was taken less than 24 hours from birth.

Risks

Drawing a blood sample from a baby's heel rarely leads to any complications.

Newborn Screening in the Philippines

Newborn screening is mandated in R.A. 9288 or the Newborn Screening Act of 2004. In cooperation with the Department of Health, NBS is available in hospitals, lying-ins, rural health units, and health centers.

There are five disorders currently being screened in the Philippines. These are:

  • Congenital Hypothyroidism (CH). This is the most commonly identified disorder. CH results from the lack or absence of thyroid hormone which is important for a child's physical and mental development. A baby with CH could suffer growth and mental retardation if the disorder is not detected early and hormone replacement is not initiated within four weeks. If the disorder is detected early, a baby can be treated with doses of the thyroid hormone to allow normal development.
  • Congenital Adrenal Hyperplasia (CAH). This is an endocrine disorder that affects the development of the genitals because of extremely high levels of male sex hormones in both boys and girls. This disorder also causes severe salt loss and dehydration. A baby with CAH could die within 7-14 days due to loss of salt from the kidneys if the disorder is not detected and treated immediately. If the disorder is detected early, a baby can be treated through supplementation of the missing hormones.
  • Galactosemia (GAL). A baby with galactosemia lacks an enzyme that converts galactose, the sugar in milk, into glucose, a sugar the body uses. Because of this, milk and other dairy products are banned from the baby's diet. If galactose accumulates excessively in the baby's system, it can lead to liver damage, brain damage, severe mental retardation, blindness, growth deficiency, and death.
  • Phenylketonuria (PKU). A baby with this rare condition cannot use phenylalanine, a building block of protein. If phenylalanine accumulates excessively in the system, it can cause brain damage. Feeding a baby with a special formula low in phenylalanine can help prevent mental retardation. As he grows, a low phenylalanine diet will be reinforced. The diet eliminates high-protein foods so an artificial formula acts as a nutritional substitute for those with PKU.
  • Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD def). A baby lacking with the G6PD may have severe anemia and kernicterus, a form of brain damage resulting from excessive jaundice.
Disorder
Screened
Effect if
Not Screened
Effect if
Screened & Treated
CH Severe Mental Retardation Normal
CAH Death Alive and Normal
GAL Death or Cataracts Alive and Normal
PKU Severe Mental Retardation Normal
G6PD Def Severe Anemia, Kernicterus Normal

NBS is included in the Philhealth Newborn Care Package.

Newborn Screening Centers (NSC)

The country currently has four facilities equipped with a laboratory that provides the required tests and programs for newborn screening:

External links

References

  • Newborn Screening. Centers for Disease Control and Prevention. (Accessed January 24, 2011).
  • Newborn Screening. Medline Plus. (Accessed January 24, 2011).
  • Health Beat Magazine Issue no. 46. Department of Health of the Philippines. (Accessed on May 27, 2010).