Newborn Screening

• BREASTFEEDING & NEWBORN SCREENING
• NEWBORN SCREENING
• NEWBORN SCREENING


  1. 1996 REPUBLIC ACT 9288

  2. A public health program aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions
• NEWBORN SCREENING


  A simple procedure to find out if a baby has a congenital metabolic disorder that may lead to mental retardation and death if left untreated
• Most babies with metabolic disorders look normal at birth
• NEWBORN SCREENING


  1. Using the heel prick method, a few drops of blood are taken from the baby's heel and blotted on a special absorbent filter card

  2. The blood is air dried for 4 hours and sent to the Newborn Screening Laboratory (NBS Lab)
• Newborn screening is ideally done on the 48th hour or at least 24 hours from birth
• The baby must be screened for more accurate results
• NEWBORN SCREENING RESULT


  1. Seven (7) working days from the time the newborn screening samples are received

  2. Laboratory result indicating an heritable disorder (i.e. positive increased risk or of a screen) shall be followed by confirmatory test
• Who can collect the sample for newborn screening?

  • Physician
  • Nurse
  • Midwife
  • Medical Technologist
• The five (5) metabolic disorders being identified by newborn screening

  • CAH
  • CH
  • GAL
  • PKU
  • G6PD Deficiency
• The five (5) metabolic disorders being identified by newborn screening

  • CAH: Hyperpigmentation, Ambiguous Genitalia in female infants
  • CH: Normal appearance at birth
  • GAL: Normal appearance at birth
  • PKU: Normal appearance at birth
  • G6PD Deficiency: Normal appearance at birth
• The five (5) metabolic disorders being identified by newborn screening (Signs & Symptoms)

  • CAH: 7-14 days
  • CH: 4 weeks
  • GAL: 2 weeks
  • PKU: 3 weeks
  • G6PD deficiency: On exposure to specific agents causing hemolysis
• What happens to unscreened and untreated babies?

  • CAH: Death
  • CH: Severe Growth and Mental Retardation
  • GAL: Death or Cataracts
  • PKU: Severe Mental Retardation
  • G6PD Deficiency: Severe Anemia, Jaundice, Kernicterus
• Congenital Adrenal Hyperplasia (CAH)

  A disorder present at birth and characterized by abnormalities in the production of certain hormones of the adrenal glands
• Congenital Adrenal Hyperplasia (CAH)


  • An endocrine disorder caused by abnormalities in specific enzyme of the adrenal gland that causes severe salt lose, dehydration and abnormally high levels of male sex hormones in both boys and girls
  • If not detected and treated early, babies may die within 7-14 days
• Congenital Adrenal Hyperplasia (CAH): Clinical Manifestations

  • Salt wasting: Deficient aldosterone leading to losing too much water and salt via urine, dehydration and very low blood pressure
  • Increased pigmentation
  • Ambiguous genitalia in female infants
  • Poor suck, weak cry
  • Vomiting, excessive urination
  • Irritability and seizures
• Congenital Adrenal Hyperplasia (CAH): If Untreated

  • Severe dehydration leads to shock, a serious situation in which not enough blood is getting to the brain and other organs called the "adrenal crisis"
  • Signs of adrenal crisis include: Confusion, Irritability, Rapid heart rate, Coma
• Congenital Adrenal Hyperplasia (CAH) in Boys and Girls


  • Boys: Enlarged penis, Nothing is suspected at birth

  Girls: Ambiguous genitalia, Early increase in height, Early appearance of pubic and axillary hair, Early development of masculine characteristics (deep voice, adam's apple, muscular build), Excessive hair on face, arms, legs, chest, Deep voice, Small testes upon reaching adolescence (has a scrotum of a little boy even when they are teenagers), Failure to menstruate, Severe acne
• Congenital Hypothyroidism (CH)


  A condition in which the person does not make enough thyroid hormone
• Causes of Congenital Hypothyroidism (CH)
• PEN NOTHING IS SUSPECTED AT BIRTH
• Early signs


  • EARLY INCREASE IN HEIGHT
  • Early appearance of pubic and axillary hair
  • EARLY DEVTOF MASCULINE CHARACTERISTICS (deep voice, adam's apple, muscular build)
  • Excessive hair on face, arms, legs, chest
  • Deep voice
• Other signs


  • Failure to menstruate
  • Severe acne
• CAAL HAAH MT (C) ONGENITA DERPLASIA NAGE MENT HORMONE REPLACEMENT

  • Hydrocortisone - a synthetic form a pill form. of cortisol in • must be taken throughout life to prevent CAH effects.
  • CUSHING SYNDROME
  • For those with abnormal genitalia PEDIATRIC SURGERY before 3 yrs. old to prevent psychological and emotional problems.
• CLMCH) ONGENITA HYPOTHYROIDIS


  A condition in which the person does not make enough hormone. thyroid
• CAUSES OF CONGENITAL HYPOTHYROIDIS

  • Defective development of thyroid gland
  • Development of thyroid gland in an abnormal location
  • Maternal intake of anti-thyroid medication or excess iodine
  • An inherent defect in manufacturing hormone the thyroid
• CLINICAL MANIFESTATION OF CONGENITAL HYPOTHYROIDIS

  • Jaundice
  • Poor muscle tone
  • Low body temperature
  • Long protruding tongue
  • Large anterior fontanel
  • Umbilical hernia
• CLMCH) ONGENITA HYPOTHYROIDIS ANAGEMENT


  • Thyroid Replacement before 2 weeks old
  • L -THYROXINE tablet form for babies with CH - crushed into into a small amount of food or other liquid. NOTE: DO NOT GIVE o Soy-based formulas and iron supplements the amount of absorption. - reduce
• GALACTOSEMI (GAL)


  A condition in which the body is unable to process galactose, the sugar present in milk. Accumulation of excessive galactose in the body can cause many problems, including liver brain damage, and cataracts.
• GALACTOSEMI (GAL)


  An inherited disorder that lacks an enzyme (galactose-1-phosphate uridyl transferase/Gal-1-PUT) which helps the body break down the galactose.
• GALACTOSEMI (GAL) ANAGEMENT


  Avoid MILK and MILK PRODUCTS • Substituted with LACTOSE FREE or GALACTOSE MILK FREE such as SOY-BASED MILK FORMULA. A Galactose-restricted diet must be followed for life and requires close supervision and monitoring.
• PHENYLKETONURIA (PKU)


  An autosomal recessive metabolic disorder in which the body cannot properly use one of the building blocks of protein called phenylalanine, an essential amino acid that converts into tyrosine causing elevation of phenylalanine in the blood.
• Phenylketonuria (PKU)


  • Phenylalanine is neurotoxic
  • Excessive accumulation of phenylalanine in the body causes brain damage.
  • "Phenylalanine hydroxylase" (PAH), is either missing or not working properly.
• Effects of untreated PKU

  • The first effects are usually seen around 6 months of age.
  • Untreated infants may be late in learning to sit, crawl and stand.
  • They may pay less attention to things around them.
  • Without treatment, a child with PKU will become mentally retarded
• Clinical manifestations of PKU

  • Severe intellectual impairment
  • Microcephaly
  • Eczema
  • Seizures
  • Hypopigmentation
  • Hyperactivity
  • Musty or mousy urine odor
  • Light hair and skin color
  • Autistic behavior
• Because a child with PKU lacks the normally functioning necessary to phenylalanine enzyme break down (PHE), it accumulates in the blood and body tissues. This excess PHE can prevent normal brain development and result in mental retardation.
• PHENYLKETONURIA (PKU): MANAGEMENT


  Should start as soon as possible but no later than 10 days. Protein diet restriction
• GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY (G6PD DEF.)


  An inherited condition in which the body lacks the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can
• PKU


  Phenylketonuria - a condition where a child lacks the enzyme to break down phenylalanine, causing it to accumulate in the blood and body tissues, which can prevent normal brain development and result in mental retardation