ra9288

• Newborn Screening enables early detection and management of certain metabolic disorders which if left untreated, may lead to mental retardation and death
• Metabolic disorders covered by newborn screening

  • Congenital hypothyroidism
  • Congenital adrenal hyperplasia
  • Phenylketonuria
  • Galactosemia
  • Glucose-6-phosphate dehydrogenase deficiency
  • MSUD

  
• Congenital hypothyroidism / Cretinism


  Newborn babies unable to make enough thyroid hormone, leading to short stature, severe mental retardation, coarse facial features, protruding tongue, umbilical hernia, low T3/T4, high TSH
• Congenital adrenal hyperplasia


  People lack one of the enzymes needed for proper function of the adrenal glands (21-Hydroxylase, 11-Hydroxylase, 18-Hydroxylase)
• Symptoms of congenital adrenal hyperplasia


  • Male: Enlarged penis, failure to regain birth weight, weight loss, dehydration, vomiting, precocious puberty, shorter final height
  • Female: Ambiguous genitalia, failure to regain birth weight, weight loss, dehydration, vomiting, precocious puberty, shorter final height, infertility, irregular/absent menstruation, masculine characteristics
• Phenylketonuria (PKU)


  Babies are missing the enzyme phenylalanine hydroxylase, needed to break down phenylalanine, leading to brain and nervous system damage if untreated

  
• Screening for phenylketonuria


  1. FeCl3 tube test (urine + 5% ferric chloride produces blue-green color)

  2. Guthrie Bacterial Inhibition test (Bacillus subtilis culture with beta2-thienylalanine, phenylalanine counteracts inhibition)

  
• Galactosemia


  Inherited metabolic disorder caused by enzyme deficiency (galactokinase, GALT 1, UDP Galactose 4'-epimerase) resulting in accumulation of galactose in the body

  
• Glucose-6-phosphate dehydrogenase (G6PD) deficiency


  Deficiency in this important enzyme in glucose metabolism, leading to symptoms when exposed to oxidative stressors

  
• Symptoms of G6PD deficiency


  • Jaundice
  • Dark tea-colored urine
  • Back pain (kidney damage)
  • Anemic symptoms (fatigue, hypotension, tachycardia, confusion)

  
• Maple syrup urine disease (MSUD)

  Metabolic disorder caused by genetic mutations inhibiting breakdown of certain amino acids (leucine, isoleucine, valine), leading to increased levels in blood and urine
• Screening and confirmation for MSUD

  1. Screening: 2,4-Dinitrophenylhydrazine (DNPH) test (yellow turbidity/precipitate)

  2. Confirmatory: Amino acid chromatography
• Symptoms of MSUD


  • Vomiting
  • Lack of energy (lethargy)
  • Developmental delay
  • Avoiding food
  • Urine that smells like maple syrup
• If untreated, MSUD can lead to seizures, coma, and death
• The Newborn Screening Act of 2004 (RA 9288) promulgates a comprehensive policy and national system for ensuring newborn screening

  
• National Institute of Health (NIH)


  Technical arm in implementation of newborn screening and where the Newborn Screening Reference Center is located
• Provisions of the Newborn Screening Act


  • Parents/guardians can refuse testing on religious grounds
  • Collection: after 24 hours but not later than 3 days, NICU babies by 7 days
  • Screening done by heel prick, blood dried and sent to Newborn Screening Center
  • Positive results released within 24 hours, negative results in 7 working days
  • All disorders require lifetime management
• Establishment of Newborn Screening Centers

  • 2 in Luzon
  • 2 in Visayas
  • 1 in Mindanao

  
• Declaration of Policy


  The state shall protect and promote the right to health of the people, including children's right to survival and full healthy development, by institutionalizing a comprehensive, integrative and sustainable national newborn screening system
• Objectives of the Newborn Screening Act

  • Ensure access to newborn screening for conditions that can cause mental retardation, health complications or death if untreated
  • Establish an integrated sustainable newborn screening system
  • Ensure health practitioners are aware of newborn screening and their responsibilities
  • Ensure parents recognize their responsibility in promoting their child's right to health and full development

  
• Components of a Comprehensive Newborn Screening System


  • Education of stakeholders
  • Collection and biochemical screening of blood
  • Tracking and confirmatory testing
  • Clinical evaluation and confirmation
  • Treatment (drugs, medical/surgical management, dietary supplementation)
  • Evaluation of activities and long-term outcome
  • Patient outcome and quality assurance

  
• Key Definitions


  • Newborn: child from complete delivery to 30 days old
  • Newborn Screening: process of collecting blood and testing for heritable conditions
  • Newborn Screening Center: facility equipped with screening lab that meets standards
  • Newborn Screening Reference Center: central facility at NIH that defines protocols, maintains database, provides training
  • Follow-up: monitoring of newborn
  • Treatment: prompt, appropriate medicine, medical/surgical management, dietary prescription
• The DOH and PHIC shall require health institutions to provide newborn screening services as a condition for licensure or accreditation
• Responsibilities of the DOH as lead agency

  • Establish advisory committee on newborn screening
  • Develop implementing rules and regulations
  • Coordinate with DILG for implementation
• Composition of the Advisory Committee on Newborn Screening

  • Chairman: DOH Secretary
  • Vice Chairman: NIH Executive Director
  • DILG Undersecretary
  • Council for the Welfare of Children Executive Director
  • Newborn Screening Reference Center Director
  • 3 representatives appointed by DOH Secretary (Pediatrician, Obstetrician, Endocrinologist, Family Physician, Nurse, Midwife)
• Responsibilities of the Newborn Screening Reference Center

  • Maintain national testing database and case registries
  • Provide training and technical assistance
  • Ensure continuing education for lab staff
• Responsibilities of the NIH for Quality Assurance


  • Draft and ensure good lab practice standards
  • Establish external lab proficiency testing and certification program
  • Maintain technical information on newborn screening standards and practices
  • Provide technical assistance to screening centers
• The Newborn Screening Reference Center shall maintain a national database of patients tested and a registry for each condition, and submit annual reports to the DOH and Advisory Committee
• Components of the Newborn Screening Fee

  • Testing costs
  • Education
  • Sample transport
  • Follow-up cost
  • Reasonable overhead expenses

  
• The Newborn Screening Act of 2004 (RA 9288) has 19 sections across 5 articles, and was approved on April 7, 2004 under President Gloria Macapagal-Arroyo