Screening

By one month well-child visit assessment strategy

The American Academy of Pediatrics has laid out a strategy that paediatric primary care providers can use at the routine ‘by one month’ well-child visit between 2 and 4 weeks of age to help detect biliary atresia promptly. The guidance recommends that at this well-child visit:[50]

  • Infants do not require further testing for biliary atresia if they have any of the following, as they are unlikely to have biliary atresia, even if they have jaundice or acholic stools:

    • Normal prior direct or conjugated bilirubin measurement (i.e., within the laboratory-derived reference range). This is because infants with biliary atresia have direct or conjugated bilirubin levels that are above the reference range starting at birth.

    • Abnormal prior direct or conjugated bilirubin measurements (i.e., above the laboratory-derived reference range) that were stable or decreasing over time and also <17.1 micromoles/L (<1 mg/dL). This is because infants with biliary atresia have direct or conjugated bilirubin levels that increase in the first few weeks of life before plateauing.

  • Infants with any of the following should have a direct or conjugated bilirubin measurement within 48 hours:

    • any degree of jaundice in eyes or skin, or

    • pale, gray, or white stools by either inspection or carer report, or

    • a prior direct or conjugated bilirubin measurement that was above the testing laboratory’s derived reference range (even if only slightly raised).

If the test finds an infant to have direct or conjugated bilirubin levels ≥17.1 micromoles/L (≥1 mg/dL) a paediatric gastroenterologist should be consulted to determine next steps, such as ordering additional tests or referral. If the paediatric gastroenterologist suggests referral this should be done urgently, with the infant ideally seen within 5 days. Ordering additional tests such as liver enzymes or abdominal ultrasound before consulting the paediatric gastroenterologist is not recommended as younger infants with biliary atresia may have normal results that could be falsely reassuring and delay referrals.[50][56][57]

Infants aged between 2 and 4 weeks who are found to have direct or conjugated bilirubin levels above the laboratory-derived reference interval but <17.1 micromoles/L (<1 mg/dL) are unlikely to have biliary atresia and should be monitored clinically, with no further testing unless jaundice or pale stools develop.[50]

​The guidance also highlights opportunities to detect biliary atresia at earlier routine clinical encounters before the ‘by one month’ visit:[50]

  • At the routine ‘newborn’ encounter before discharge from hospital: review babies’ direct or conjugated bilirubin levels and consult a paediatric gastroenterologist if needed (e.g., levels are already ≥17.1 micromoles/L [≥1 mg/dL] and increasing).

  • At the ‘3-5 day’ outpatient encounter after discharge: ask parents to look for pale, gray or white stools, review previous direct or conjugated bilirubin levels, and schedule the ‘by one month’ well-child visit. Consult a paediatric gastroenterologist if needed (e.g., direct or conjugated bilirubin levels are already ≥17.1 micromoles/L [≥1 mg/dL] and increasing).

Stool cards

In several Asian countries, stool screening cards are handed out after birth to give parents a visual picture of the spectrum of acholic stools.[71][72]​ Parents are asked to call a hotline if any abnormal stool colours are detected. This has not been implemented in the US, but has been adopted in some provinces in Canada and some European countries.[50][73]

Direct bilirubin

In the UK, a pilot programme was tested using a visiting nurse to measure direct bilirubin in the first month of life.[74] Results indicated that the method employed for screening for cholestatic hepatobiliary disease (tandem mass spectrometry) could not feasibly be implemented for mass screening.

Studies in the US have shown that direct or conjugated bilirubin levels in the newborn can be used for early detection of biliary atresia, and the strategy has been implemented in parts of the country.[3][50]

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