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Newborn screening for biliary atresia in the United States
Cat Goodhue1, Michael Fenlon1, Kasper S Wang2
1Developmental Biology and Regenerative Medicine Program, Division of Pediatric Surgery, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, Mailstop 100, Los Angeles, CA, 90027, USA.
Insights
Early screening for biliary atresia (BA) using stool color cards or bilirubin levels can lead to earlier diagnosis and treatment, improving outcomes for infants with this liver disease.
Area of Science:
- Pediatrics
- Hepatology
- Public Health
Background:
- Biliary atresia (BA) is the primary cause of pediatric end-stage liver disease and the leading reason for liver transplants in children.
- Delayed diagnosis of BA hinders effective treatment, leading to progressive liver fibrosis and cirrhosis.
- Current diagnostic challenges necessitate improved early detection methods for jaundiced infants.
Purpose of the Study:
- To evaluate the effectiveness of population-based screening programs for early detection of biliary atresia (BA).
- To assess the impact of early diagnosis and intervention on transplant-free survival rates in infants with BA.
- To explore the cost-effectiveness and feasibility of implementing BA screening in diverse healthcare settings.
Main Methods:
- Review of population-based screening programs utilizing stool color cards in Asian countries.
- Analysis of cost-effectiveness studies on stool color card screening in North America.
- Examination of postnatal serum bilirubin levels as a potential screening biomarker for BA.
- Consideration of recommendations from the American Academy of Pediatrics (AAP) regarding newborn screening for BA.
Main Results:
- Stool color card screening programs have demonstrated success in earlier BA diagnosis and improved outcomes in pilot studies.
- Cost-effectiveness analyses suggest that BA screening can improve transplant-free survival and reduce healthcare costs.
- Elevated postnatal serum bilirubin levels show potential as an effective screening tool due to consistent hyperbilirubinemia in BA infants.
- Evidence supports the efficacy of BA screening even in regions with lower incidence rates.
Conclusions:
- Implementing screening programs, such as those using stool color cards or monitoring bilirubin levels, is crucial for the early detection of biliary atresia.
- Early diagnosis and timely Kasai portoenterostomy (KPE) significantly improve transplant-free survival in infants with BA.
- Further research and implementation efforts in the United States are warranted to establish effective newborn screening protocols for BA.
Abstract:
Despite advances in our understanding of the pathogenesis of biliary atresia (BA), BA remains the most common cause of end-stage liver disease in children and the leading indication for pediatric liver transplantation. Age at time of Kasai portoenterostomy (KPE), performed to provide bile drainage, strongly correlates with transplant-free survival, mostly due to progression of intrahepatic fibrosis to cirrhosis. Unfortunately, challenges remain in recognizing that a jaundiced infant may have BA. To better diagnose infants with BA at an earlier age, population-based screening programs in countries such as Taiwan, Japan, and China have utilized stool color cards. Early results have been promising demonstrating earlier diagnosis, earlier KPE, and, hence, improved outcomes. Cost-effectiveness studies focused on stool color card screening in North America where the incidence of BA is much lower also project improved transplant-free survival rate with a savings in terms of healthcare expenditure. There is also evidence that postnatal serum bilirubin levels may also be effective as a screening tool given that all infants with BA exhibit hyperbilirubinemia at birth. The American Academy of Pediatrics (AAP) recently advocated studying the implementation of newborn screening for BA in the United States. Further efforts and analyses within the United States are ongoing, but current evidence is supportive of screening for BA even in low incidence countries.
