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• Newborn screening (NBS) is a simple procedure to find out if a baby has congenital metabolic disorder that may lead to mental retardation and even death if left untreated
• Newborn screening


  A public health program that detects treatable disorders in newborns, allowing treatment to begin often before symptoms or permanent problems occur
• Newborn screening process


  1. Heel stick

  2. Few drops of blood collected on special paper card

  3. Providers test dried blood spots for congenital disorders

  4. Newborns also screened for hearing disorders and serious heart problems
• The Department of Health (DOH) Advisory Committee on Newborn Screening (ACNBS) has approved the implementation of the expanded newborn screening program
• The trial for expanded newborn screening is currently being conducted in selected hospitals in Metro Manila and its implementation will start on January 2014
• Newborn screening program in the Philippines currently includes

  • Congenital hypothyroidism (CH)
  • Congenital adrenal hyperplasia (CAH)
  • Phenylketonuria (PKU)
  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency
  • Galactosemia (GAL)
  • Maple syrup urine disease (MSUD)
• The expanded screening will include 22 more disorders such as hemoglobinopathies and additional metabolic disorders, namely, organic acid, fatty acid oxidation, and amino acid disorders
• The expanded NBS will be offered as optional to parents in all participating facilities
• The first option is the screening of six disorders at ₱550, which is included in the newborn care package for Philhealth members and the second option is the full complement of disorder at ₱1500
• There is on-going discussion with Philhealth to increase subsidy for expanded newborn screening
• The formal recommendation to expand the coverage of the NBS program was prompted by the results of the study Enhancing case detection of selected inherited disorders through expanded newborn screening in the Philippines
• The data of Filipino newborns screened through the California newborn screening program (CNSP) from 2005 to 2009 revealed that serious disorders were detected from CNSP which are not included in the existing program of the country
• The screening of more disorders will save more lives and reduce unnecessary negative health outcomes of Filipino newborns
• Newborn screening is a procedure intended for early identification of infants who are affected by certain genetic, metabolic, or infectious conditions that may lead to mental retardation or morbidity if left untreated
• The NBS was integrated into the public health delivery system with the enactment of Republic Act 9288 or Newborn Screening Act of 2004
• Most babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the signs and symptoms are manifested. By this time, irreversible consequences are already present
• Newborn screening is done

  • Ideally on the 48th to 72nd hour of life (first 2 to 3 days of life)
  • May also be done 24 hours from birth since some disorders are not detected if the test is done earlier than 24 hours from birth
• How newborn screening is done

  1. Using the heel prick method, a few drops of blood are taken from the baby's heel

  2. Blotted on a special absorbent filter card

  3. Blood is dried for 4 hours and sent to the Newborn Screening Center
• Who may collect the sample for newborn screening

  • Trained physician
  • Nurse
  • Midwife
  • Medical technologist
• Where newborn screening is available

  • Participating Newborn Screening Facilities that includes hospitals
  • Lying-in centers
  • RHU's
  • Health centers
• If babies are delivered at home, the baby may be brought to the nearest Newborn Screening Facility
• When newborn screening results are available

  • Seven (7) working days from the time the newborn screening samples are received
  • Any laboratory result indicating an increased risk of a heritable disorder (i.e. positive screen) shall be immediately released, within twenty-four (24) hours, so that confirmatory testing can be immediately done
• Positive screen


  The newborn must be referred at once to a specialist for confirmatory testing and further management
• Out of range results

  • The child's health care provider or someone from the state health department will notify the parents, usually within 2 to 3 weeks, if the results are out of range
  • This result does not mean the child definitely has the condition detected
  • If the test result is positive, it is very important for the infant to undergo additional testing right away to confirm and diagnose any specific condition(s)
• Roles of the RHU staff


  • Advocacy for the newborn screening of every baby
  • Sample collection
  • Assures transport of specimen to the nearest Newborn Screening Facility within twenty-four (24) hours following collection of the sample
  • Advice and counsel parents upon receiving the screening results
• Newborn screening makes early diagnosis possible so that treatment can begin immediately—before serious problems can occur or become permanent
• Congenital hypothyroidism


  • Congenital hypothyroidism may have a number of causes and can be either permanent or transient
  • The majority of cases are sporadic (nonhereditary), but approximately 15% of all cases are transmitted as an autosomal dominant trait
  • The most common pathogenesis is thyroid dysgenesis, mostly with unknown causes
  • Early detection and prompt initiation of treatment are essential because their delay will result in various degrees of cognitive impairment
• Infants with Down syndrome have a much higher rate of either permanent or transient forms of congenital hypothyroidism (approximately 1 in 140 newborns)
• Diagnostic evaluation for congenital hypothyroidism

  1. Neonatal screening consists of an initial filter paper blood spot thyroxine (T4) measurement followed by measurement of thyroid-stimulating hormone (TSH) in specimens with low T4 values

  2. Additional tests include serum measurement of T4, triiodothyronine (T3), resin uptake, free T4, and thyroid-bound globulin

  3. Tests of thyroid gland function (thyroid scan and uptake) usually involve oral administration of a radioactive isotope of iodine (131I) and measurement of iodine uptake by the thyroid
• Therapeutic management for congenital hypothyroidism

  • Treatment involves lifelong thyroid hormone replacement therapy as soon as possible after diagnosis to abolish all signs of hypothyroidism and reestablish normal physical and mental development
  • The drug of choice is synthetic levothyroxine sodium (Synthroid, Levothroid)
• Nursing care management for congenital hypothyroidism

  • The most important nursing objective is early identification of the disorder
  • Parental remarks about an unusually "quiet and good" baby and demonstrated symptoms such as prolonged jaundice, constipation, and umbilical hernia should lead to a suspicion of hypothyroidism, which requires a referral for specific tests
  • The importance of compliance with the drug regimen for the child to achieve normal growth and development must be stressed
• Phenylketonuria (PKU)


  • PKU is an inborn error of metabolism inherited as an autosomal recessive trait caused by a deficiency or absence of the enzyme needed to metabolize the essential amino acid phenylalanine
  • The hepatic enzyme phenylalanine hydroxylase, which normally controls the conversion of phenylalanine to tyrosine, is deficient
  • This results in the accumulation of phenylalanine in the bloodstream and urinary excretion of abnormal amounts of its metabolites, the phenyl acids
• The prevalence of PKU varies widely in the United States because different states have different definition criteria for what constitutes hyperphenylalaninemia and PKU
• Phenylacetic acid


  One of the phenylketones that gives urine the characteristic musty odor associated with phenylketonuria (PKU)
• Phenylpyruvic acid


  One of the phenylketones that is responsible for the term phenylketonuria
• Tyrosine


  The amino acid produced by the metabolism of phenylalanine, which is absent in PKU
• Tyrosine


  • Needed to form the pigment melanin and the hormones epinephrine and thyroxine
  • Decreased melanin production results in blond hair, blue eyes, and fair skin that is particularly susceptible to eczema and other dermatologic problems
• The reported figures for PKU in the United States is one case per 15,000 live births
• The disease has a wide variation of incidence by ethnic groups
• In Europe, the incidence of PKU is 1 in 10,000 births