newborn screening

• Newborn Screening


  Non-diagnostic procedure that requires a series of follow-up tests to verify abnormal results
• Newborn Screening Procedures

  1. Collect urine and blood samples

  2. Conduct different tests
• Hearing Screening


  • Non-painful procedure to check for hearing loss not later than 1 month of age
• Screening for Critical Congenital Heart Defects


  • Usually done using oximetry on the baby's hands and feet
  • Identify the condition before signs and symptoms show
  • Painless, takes about 5 minutes
• Circumcision


  • Done at parents' request
  • Advantages: lower risks for urinary tract infection, prostate cancer, acquiring sexually transmitted disease
• Comprehensive Screening test for Jaundice


  • Employed Guthrie test
  • A monitor is placed on newborn's forehead for seconds
  • Method is safe, accurate, painless
  • If result is high, blood bilirubin test is done
• Newborn screening is done even if baby looks healthy since some clinical conditions are asymptomatic
• Newborn screening avoids brain or organ damage and helps babies get proper medication early
• Factors Needed to Make Decision for Newborn Screening


  • Understanding of the newborn condition's natural history
  • Acceptable treatment protocol that changes the outcome for patients diagnosed early
  • Understanding of who will be treated as a patient
• Hemoglobinopathies

  • Porphyrias
  • Sickle cell disease
  • Hemoglobin C disease
  • Hemoglobin SC disease
  • Hemoglobin D disease
  • Hemoglobin constant spring
  • Thalassemia
• Porphyrias


  Characterized by a defect in 1 or more enzymes involved in heme synthesis resulting in the accumulation of porphyrin
• Sickle Cell Disease


  Characterized by the presence of Hgb S in a homozygous state, causing RBCs to become rigid and trapped in capillaries
• Hemoglobin C Disease


  Characterized by having an amino acid substitution lysine for glutamic acid on the 6th position of the beta chain, causing RBCs to appear as target cells
• Hemoglobin SC Disease


  A double heterozygous condition in which an abnormal S gene from one parent and an abnormal C gene from another parent are inherited
• Hemoglobin D/E Disease


  • Hgb D disease is characterized by an amino acid substitution glutamine at the 121st position of the beta chain
  • Hgb E disease is characterized by an amino acid substitution lysine at the 26th position of the beta chain and may cause mild anemia
• Hemoglobin Constant Spring


  Characterized by having 31 amino acids added to the alpha chain, clinically resembling alpha thalassemia
• Thalassemia


  A clinical condition whose predominant cause is gene deletion, with α & β types being the most common
• Congenital Hypothyroidism


  Characterized by the absence or poor functioning of the thyroid gland, resulting in reduced thyroxine production and increased TSH
• Classic Adrenal Hyperplasia


  Characterized by a deficiency of steroid 21-hydroxylase
• PKU


  Most common inherited autosomal recessive disorder characterized by a deficiency in phenylalanine hydroxylase, causing mental retardation
• Amino Acid Disorders


  • PKU
  • MSUD
  • Alkaptonuria
  • Tyrosinemia/tyrosinuria
  • Cystinuria
• Fatty Acid Oxidation Disorders


  Recently discovered, characterized by a deficiency in acyl-CoA dehydrogenase, can be asymptomatic but life-threatening or often fatal
• Cystic Fibrosis


  An autosomal recessive disorder characterized by thick mucus in the lungs and digestive system
• RA 9288 of 2004 mandates the newborn screening procedure as a national policy in favor of the child's health
• Provisions of RA 9288


  • Obligation to inform
  • Performance of the newborn screening
  • Refusal for testing
  • Re-education and re-training of healthcare personnel
  • Licensing or accreditation
• Guidelines Prior to Test Procedures

  1. Provide parents/legal guardians information brochure

  2. Explain the newborn screening procedure

  3. Discuss reasons for sample collection

  4. Advise parents/legal guardians to arrange further testing if needed

  5. Document informed consent
• Steps in Sample Collection

  1. Properly document baby and family information

  2. Ensure complete identification of the baby

  3. Collect blood sample within 24-72 hours using capillary puncture

  4. Allow blood to soak and completely fill the circle on the card, air dry
• Further Screening Requirements

  • Infants who commenced total parenteral nutrition (TPN)
  • Infants receiving palliative care
  • Infants receiving blood products including/exchange transfusions, platelets, and freeze frozen plasma (FFP)
  • Infants born after 'in-utero blood transfusion'
  • Extremely low birth weight or premature infants
• Earliest screening test was PKU -Discovered by Robert Guthrie who made use of capillary blood from newborn on the 2nd day of life.
• The lead agency for the implementation of the newborn screening procedure as stated in Article 4 of this Act is the DOH which established its objectives.
• Refusal for testing should be acknowledged in writing if the parent or legal guardian refuses the testing procedure

  because of religious beliefs
• For full implementation, all government and non-governmental sectors including hospitals and clinics are required to undertake screening procedures.
• Infants who commenced total parenteral

  nutrition (TPN)

  ○ If possible, collect a sample before the TPN commences regardless of time. If not possible, collect a sample within 48-72 hours.

  ○ Mark ‘TPN’ box on the screening card.

  ○ Repeat the sample 48 hours after the cessation of TPN.
• Infants born after ‘in-utero blood transfusion’:

  ○ Obtain a sample 48-72 hours after birth as this is the time when the mother’s/ donor’s influence on metabolites ceases.

  ○ A second sample should be collected 3 weeks later.
• performance of the newborn screening should be done within 24 hours from the time of complete delivery but not later than 3 days and the newborn will be placed in the intensive care unit from 3 days up to the time of the test on the 7th day
• Extremely low birth weight or premature infants:

  ○ A second sample should be repeated after the initial specimen to detect those infants in which the

  immaturity of the hypothalamic-pituitary-thyroid axis may initially mask primary congenital hypothyroidism.

  ○ For birth weight <1000 grams, a 2nd specimen is collected at 3 weeks (no later than 6 weeks) For birth weight <1500 grams, a 2nd specimen is collected at 2 weeks (no later than 4 weeks)