GASTROENTEROLOGY,  LIVER DISEASE,  NEONATES PAEDS,  PAEDIATRICS

Jaundice – (neonatal)

  • Serum Bilirubin Level: Essential for diagnosing significant jaundice as visual estimation is unreliable.
  • Physiological Jaundice: Common in well infants and often requires no intervention.
  • Pathological Jaundice: Requires prompt investigation. Indicators include onset before 24 hours, unwell infant, elevated conjugated bilirubin, prolonged jaundice, and pale stools.

Background

  • Prevalence: Occurs in 60% of full-term and 80% of pre-term infants within the first week.
  • Cause: Imbalance in bilirubin production, conjugation, and elimination.
  • Complication: Kernicterus, a rare but severe neurological condition from unconjugated hyperbilirubinemia.

Risk factors

 MaternalNeonatal
Blood group O
RhD negative
Red cell antibodies
Genetic: family history, East Asian, Mediterrean
Diabetes
Previous baby requiring phototherapy
Feeding – breastfeeding, reducing intake
Haematoma, bruising
Polycythaemia
Haemolysis
Bowel obstruction
Infection
Pre-term, male
  • Sub optimal intake jaundice or breastfeeding associated jaundice usually appears between 48-72 hours of life, peaks at day 3-5, and is associated with poor intake, poor weight gain and delayed or reduced bowel motions.
  • Increasing oral intake +/- phototherapy is the treatment.
  • If there are concerns for a breastfed baby regarding milk supply or poor oral attachment, refer to a lactation consultant for assessment at the Breastfeeding Centre of WA (King Edward Memorial Hospital (KEMH), Community Health breastfeeding support or a private lactation consultant.

Assessment

  • Indicators of Serious Conditions:
    • Jaundice in the first 24 hours.
    • Unwell or febrile infant.
    • Dark urine and pale stools (suggesting biliary obstruction).
    • Significant weight loss (>10% in the first week).
    • Cephalohematoma or significant bruising
    • Associated anaemia and hepatomegaly
    • Elevated conjugated bilirubin level
      • > 10% total serum bilirubin, or
      • > 20micromol/L
      • neonatal cholestasis (e.g. biliary atresia)
    • Prolonged jaundice
      • > 14 days in term
      • >21 days in preterm infants
      • Notably, 10% of breastfed babies are still jaundiced at 1 month, but breastmilk jaundice remains a diagnosis of exclusion

History

  • Birth history:
    • Instrumental delivery/birth trauma
    • gestational age
    • birth weight
  • Timing of jaundice: Onset and progression of jaundice,
    • <24 hours pathological
    • >2 weeks prolonged (>3 weeks in preterm)
  • Feeding:
    • Breast or formula
    • intake
    • weight loss
    • vomiting
  • Output:
    • Hydration status
    • dark urine and pale stools (cholestasis)
    • delayed passage of meconium
  • Behaviour:
    • lethargy
    • cries becoming shrill
    • arching of the body (bilirubin encephalopathy)
  • Family history:
    • ABO/rhesus incompatibility
    • glucose-6-phosphate-dehydrogenase (G6PD) deficiency
    • hereditary spherocytosis, prolonged jaundice
    • thyroid dysfunction
  • History of temperature instability

Examination

  • General tone, neurological status, hydration, plethora, bruising, cephalohematoma, hepatosplenomegaly, and pattern/degree of jaundice.

Management

  • Investigations:
    • Serum Bilirubin 
      • Total Serum Bilirubin (SBR):
        • Differentiates between unconjugated and conjugated bilirubin.
      • Transcutaneous Bilirubinometers (TCB):
        • Screening tool for near-term infants (24 hours – 2 weeks).
      • Plot bilirubin levels on gestation-based charts to determine treatment necessity.
    • Blood group and Direct Coombs if not previously done
    • Full Blood Count (FBC) (add reticulocyte count if anaemic)
    • Liver Function Tests (LFTs) + albumin
    • Urine culture
    • + / – Thyroid Function Test (TFT) (check if infant has had normal neonatal screening)
    • +/- Glucose-6-phosphate-dehydrogenase deficiency (G6PD)
    • +/- Urine for reducing substances

Types and Causes

Unconjugated hyperbilirubinaemia

  1. ↑ production – eg. Polycythaemia, abnormal erythrocyte morphology
  2. ↓ conjugation – eg. Prematurity, Hypothyroidism
  3. ↑ extrahepatic circulation – eg. Hirshprung’s, Meconium ileus
  4. Physiological
  5. Breastfeeding
  6. Other: G6PD deficiency

Conjugated hyperbilirubinaemia

  1. Hepatitis
  2. Biliary atresia
  3. α 1 antitrypsin deficiency
  4. Extrinsic biliary obstruction
  5. Total parenteral nutrition cholestasis
  • Early Onset (<24 hours):
    • Pathological: Requires FBE, SBR, Coombs test.
    • Sepsis: Investigate seriously unwell neonate.
    • Hemolysis: Check for isoimmunization, enzyme defects, hemorrhage.
    • Blood extravasation: From bruising or birth trauma.
  • Peak Onset (24 hours – 14 days):
    • Physiological Jaundice: No investigation unless red flags present.
    • Dehydration: Serum sodium, BGL.
    • Sepsis and Hemolysis: Follow similar protocols as early onset.
    • Breastmilk Jaundice: Diagnosis of exclusion.
  • Prolonged/Conjugated (>2 weeks):
    • Requires detailed investigations: SBR, FBE, TFTs, group and DAT, LFTs if conjugated bilirubin >10%.
    • Sepsis, Hemolysis, Dehydration, Breastmilk Jaundice: Follow previous protocols.
    • Hypothyroidism: Perform TFTs.
    • Conjugated Jaundice: Refer to a specialty unit for conditions like neonatal hepatitis and extrahepatic obstruction.
TypeCausesInvestigations
Early Onset:
( <24 hours)

PATHOLOGICAL
All should have:
FBE
SBR
Coombs
SepsisPlease refer to Recognition of the seriously unwell neonate and young infant
Haemolysis:
Isoimmunisation – ABO or Rhesus D alloantibodies
RBC enzyme defects – G6PD, hereditary spherocytosis, alpha thalassemia
Haemorrhage – cerebral, intra-abdominal 
Blood extravasation – (bruising/birth trauma)
FBE, film and reticulocytes
Neonatal blood group
Direct antiglobulin test (Coombs)
(G6PD screen) 
Peak Onset
(24 hours – 14 days)
No further investigations needed unless red flags 
Physiological jaundiceNo further investigations required unless red flags
Dehydration/insufficient feedingSerum sodium, BGL
No further investigations required
SepsisPlease refer to Recognition of the seriously unwell neonate and young infant
HaemolysisFBE, film and reticulocytes
Neonatal blood group
Direct antiglobulin test (Coombs)
(G6PD screen)
Breastmilk jaundiceDiagnosis of exclusion after considering above causes
Bruising, birth traumaNo further investigations required
Prolonged/ conjugated
(>2 weeks)
All should have:
SBR (unconjugated/ conjugated)
FBE, film and reticulocytes
TFTs
group and DAT
LFTs if conjugated bilirubin >10%
SepsisPlease refer to Recognition of the seriously unwell neonate and young infant
HaemolysisFBE, film and reticulocytes
Neonatal blood group
Direct antiglobulin test (Coombs)
(G6PD screen)
Dehydration/ insufficient feedingSerum sodium, BGL
No further investigations required
Breastmilk jaundiceDiagnosis of exclusion after considering above causes
HypothyroidismTFTs (to exclude central hypothyroidism)
Conjugated
(At any age point)
If conjugated fraction >10% of total bilirubin Refer to a specialty unit
Neonatal hepatitisLFTs, maternal infectious serology, metabolic screening
Extrahepatic obstruction:
– Biliary atresia
– choledochal cyst
– bile plug
LFTs, coags, abdominal US
Note: a normal ultrasound does not exclude biliary atresia
α 1 antitrypsin deficiencyAlpha-1 anti-trypsin levels, urinary reducing substances
Drugs/Parenteral nutritionInvestigations as appropriate after history and exam

Treatment

  1. Assessment & Treatment of Jaundice:
    • Phototherapy: see below
    • Exchange Transfusion: Conduct in NICU or with neonatal services.
  2. Treatment of Underlying Cause:
    • Sepsis: Immediate antibiotics.
    • Hemolysis, Dehydration, Breastfeeding Issues: Tailored management plans.
    • Physiological and Breast Milk Jaundice: Usually resolves naturally; breastfeeding should continue.
  3. Phototherapy
    • Rer to local protocol regarding intensity of lights required (including biliblanket use) and monitoring
    • Ongoing close monitoring of weight, hydration, and bilirubin levels should be performed during treatment as per local protocol, with serial checks of SBR to ensure resolution of hyperbilirubinaemia

When to Consult/Transfer

  • Consult Local Pediatric Team: If the child is unwell, the cause is unclear, or conjugated bilirubin is >10%.
  • Transfer: Rising jaundice levels despite treatment or need for exchange transfusion.

Discharge Advice

  • Full term, well appearing and afebrile neonates without significant risk factors and bilirubin level less than treatment level indicated in the graph can be discharged with GP follow-up in 1-2 days for review of intake/results check +/- repeat SBR.
  • Sunlight Exposure:
    • Not recommended
    • Sunlight exposure is not recommended for the management of hyperbilirubinaemia since it is an uncontrolled source of multiple wavelengths of light.
    • Sunburn is a risk and parents should be discouraged from using this approach. 
  • Early Follow-up: Ensure adequate oral intake, especially in infants <7 days old or exclusively breastfeeding.
  • Parents’ Instructions:
    • Seek medical review if jaundice persists for 2-3 weeks, worsens, or any other concerns arise.
    • Encourage frequent BFs (every 3hrs – wake baby for feeds if needed)

Breast milk jaundice

  • Breast milk jaundice is common and is a diagnosis of exclusion.
  • Breast milk jaundice usually appears between day 5-10, the infant is generally thriving, and no intervention is required.
  • Breast feeding should continue to be encouraged and supported. Breast milk jaundice may last 3-12 weeks.

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