MTLB 8

• Newborn


  A child from the time of complete delivery to 30 days old
• Heritable condition


  Any condition that can result in mental retardation, physical deformity or death if left undetected and untreated and which is usually inherited from the genes of either or both biological parents of the newborn
• Newborn Screening Center (NSC)


  A facility equipped with a newborn screening laboratory that complies with the standards established by the NIH and provides all required laboratory tests and recall/follow-up programs for newborns with heritable conditions
• Newborn Screening Reference Center

  • The central facility at the NIH (National Institutes of Health) that defines testing and follow-up protocols
  • Acts as the Secretariat of the Advisory Committee on Newborn Screening
  • Serves as NRL of newborn screening centers
  • Maintains an external laboratory proficiency testing program, oversees the national testing database and case registries, assists in training activities in all aspects of the program, oversees content of educational materials
• Obligation to inform


  1. Done by a health practitioner prior the delivery

  2. Inform the parents or legal guardian of the availability, nature, and benefits of newborn screening
• Performance of newborn screening

  Newborn screening must be performed after 24 hours of life but not later than 3 days from complete delivery of the newborn
• Refusal to be tested

  1. A parent or legal guardian may refuse testing on the ground of religious beliefs

  2. Shall be acknowledged in writing

  3. A copy of refusal documentation will be included in the newborn's medical record and shall be indicated in the national newborn screening database
• Continuing education


  1. The DOH shall conduct continuing information, education, re-education, and training programs for health personnel

  2. The DOH shall disseminate information materials on newborn screening at least annually to all health personnel involved
• Licensing and accreditation


  The DOH and Philippine Health Insurance Corporation (PhilHealth) shall require health institutions to provide newborn screening services as a condition for licensure or accreditation
• Department of Health


  • Lead agency
  • Establish the Advisory Committee on Newborn Screening
  • Develop the implementing rules and regulations
  • Coordinate with DILG for implementation
  • Coordinate with the NIH Newborn Screening Reference Center for accreditation of Newborn Screening Centers (NSC)
• Advisory Committee on Newborn Screening

  • Chairman: Secretary of Health (Teodoro Herbosa)
  • Vice-Chairperson: Executive Director of the NIH (Monica M. Bertagnolli)
  • DILG Undersecretary
  • Executive Director of the Council for the Welfare of Children (Atty. Maria Lourdes Fugoso-Alcain)
  • Director of the Newborn Screening Reference Center
  • 3 representatives: pediatrician, obstetrician, endocrinologist, family physician, nurse or midwife, either public or private
• Accreditation of Newborn Screening Centers


  1. Have a certified laboratory performing all tests included in the newborn screening program

  2. Have a recall/follow up programs for infants found positive for any/all of the heritable conditions

  3. Be supervised and staffed by trained personnel who have been duly qualified by the NIH

  4. Submit to unannounced or announced inspections by the Reference Center in order to evaluate and ensure quality Newborn Screening Center performance
• Congenital hypothyroidism


  • Severe deficiency of the thyroid hormones in newborns
  • Thyroid hormone deficiency
  • 1 in 3,000 - 4,000 children
  • Often permanent and requires lifelong treatment (if not diagnosed and treated early)
  • If not diagnosed promptly, may lead to irreversible neurological deficits
  • Characterized by underactive thyroid– it cannot create the N acct of hormones
  • Partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital)
  • People affected have lower-than-normal levels of these important hormones
• Congenital hypothyroidism


  • It affects more than twice as many females as males
  • The thyroid gland is a butterfly-shaped tissue in the lower neck that makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism)
  • Deficiency leads to intellectual disabilities and growth failure
• Congenital adrenal hyperplasia


  • Affects the ADRENAL GLAND
  • Lack one of the enzymes needed to make hormones
  • Development of male characteristics in females and early puberty in both boys and girls
• Adrenal gland hormones


  • CORTISOL: regulates the body's response to illness or stress
  • MINERALOCORTICOIDS: includes aldosterone; regulates sodium and potassium levels
  • ANDROGENS: includes testosterone, which are male sex hormones required for growth and development in both males and females
• Signs and symptoms of classic CAH

  • Insufficient cortisol
  • Adrenal crisis
  • Atypical genitalia
  • Excess androgen
  • Altered growth
  • Fertility issues
• Insufficient cortisol


  Classic CAH causes the body to produce an insufficient amount of cortisol. This can cause problems maintaining normal blood pressure, blood sugar and energy levels, and cause problems during physical stress such as illness
• Adrenal crisis


  People with classic CAH can be seriously affected by a lack of cortisol, aldosterone, or both. This is known as an adrenal crisis, and it can be life-threatening
• Atypical genitalia


  • Female infants may have atypical genitalia appearance, such as an enlarged clitoris. The urinary opening (urethra) and the vagina may be only one opening instead of two separate openings. The uterus, fallopian tubes, and ovaries usually develop typically.
  • Male infants usually have typical-appearing genitals
• Excess androgen


  • An excess of the male sex hormone androgen can result in short height and early puberty for both male and females. Pubic hair and other signs of puberty may appear at a very early age. Severe acne also may occur.
  • Excess androgen hormones in females may result in facial hair, excessive body hair, and a deepening voice
• Altered growth


  Rapid growth may occur during childhood with an advanced bone age. Final height may be shorter than average
• Fertility issues


  These can include irregular menstrual periods, or not having any at all, and having infertility problems in females. Fertility issues can sometimes occur in males
• Phenylketonuria (PKU)


  • An inherited disorder that increases the levels of a substance called PHENYLALANINE in the blood
  • Phenylalanine is a protein building blocks (an amino acid) that is obtained from eating certain foods such as meat, eggs, nuts, and milk, and in some artificial sweeteners
  • Newborns with PKU initially do not have symptoms. However, without treatment, babies usually develop signs of PKU
• Phenylketonuria (PKU)


  An inherited disorder that increases the levels of a substance called PHENYLALANINE in the blood
• Phenylalanine is a protein building block (an amino acid) that is obtained from eating certain foods such as meat, eggs, nuts, and milk, and in some artificial sweeteners
• Newborns with PKU initially do not have symptoms. However, without treatment, babies usually develop signs of PKU within a few months
• Signs and Symptoms of Untreated PKU

  • A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body
  • Nervous system (neurological) problems that may include seizures
  • Skin rashes such as eczema
  • Lighter skin, hair and eye color than family members (because phenylalanine cannot transform into melanin which is the pigment responsible for hair and skin tone)
  • Unusually small head size (MICROCEPHALY)
  • Hyperactivity
  • Intellectual disability
  • Delayed development
  • Behavioral, emotional, and social problems
  • Mental health disorders
• Galactosemia


  An inherited disorder that impair the body's ability to process and produce energy from a sugar called galactose
• Classic Galactosemia


  Also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth.
• Symptoms of Classic Galactosemia


  • Feeding difficulties
  • Lack of energy (lethargy)
  • Failure to gain weight and grow as expected (failure to thrive)
  • Yellowing of the skin and whites of the eyes (jaundice)
  • Liver damage
  • Abnormal bleeding
• Mutations


  Mutations in the GALT, GALK1, and GALE genes cause galactosemia
• G6PD Deficiency / Favism

  Absence/not enough enzyme called glucose-6-phosphate-dehydrogenase (G6PD). Red blood cells do not make enough G6PD. A genetic disorder that most often affects males.
• In people with G6PD deficiency, either the red blood cells do not make enough G6PD or what they do make doesn't work as it should.
• G6PD is acquired by eating fava beans
• Hemolysis


  The red blood cells break apart without enough G6PD to protect them
• Hemolytic Anemia


  Developed when many red blood cells are destroyed. Causes tiredness, dizziness, and other symptoms.
• Hemolytic Crisis


  Red blood cells that don't have enough G6PD are sensitive to some medicines, foods, and infections. When these things trigger a quick loss of red blood cells over a short time, it's called a hemolytic crisis.
• DOH MEMORANDUM NO. 2012-0154 approved on May 15, 2012 included Maple Syrup Urine Disease in the Newborn Screening Panel of Disorders
• Maple Syrup Urine Disease

  Branched-Chain Ketoaciduria. Distinctive sweet odor of affected infants' urine.