Newborn Screening for Biliary Atresia: a Review of Current Methods
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Published on: October 13, 2018
Tebyan Rabbani1, Stephen L Guthery2, Ryan Himes3
1Department of Pediatrics, University of Texas Health San Antonio, San Antonio, TX, USA.
Insights
Early detection of biliary atresia in newborns is crucial. Screening methods like stool color cards and fractionated bilirubin tests show promise for timely intervention and reducing liver transplant needs.
Area of Science:
- Neonatal Medicine
- Hepatology
- Public Health Screening
Background:
- Biliary atresia is a critical neonatal liver disease characterized by bile duct obstruction.
- Early diagnosis and treatment within the first 30-45 days of life significantly improve patient outcomes.
- Untreated biliary atresia often leads to liver failure and the need for transplantation.
Purpose of the Study:
- To review current and emerging methods for screening newborns for biliary atresia.
- To discuss observations from implemented newborn screening programs in the United States.
- To evaluate the potential of new screening strategies to improve early detection and treatment.
Main Methods:
- Review of existing literature on biliary atresia screening.
- Analysis of data from ongoing newborn screening programs.
- Examination of diagnostic methods including stool color assessment, jaundice detection, and biochemical markers.
Main Results:
- Common screening strategies include stool color cards, persistent jaundice evaluation, and fractionated bilirubin or bile acid testing from dried blood spots.
- Stool color cards are the most globally utilized screening method.
- Fractionated bilirubin measurement is an emerging approach in the US, requiring robust laboratory and healthcare system infrastructure.
- Biliary atresia fulfills disease-specific criteria for newborn screening, with ongoing efforts to meet test-specific criteria.
Conclusions:
- Effective newborn screening for biliary atresia can accelerate diagnosis and treatment.
- Implementation of uniform screening strategies has the potential to decrease the burden of liver transplantation.
- Further development is needed to optimize test-specific criteria for fractionated bilirubin screening.
Purpose Of Review:
Biliary atresia is a serious neonatal liver disease due to obstructed bile ducts that has better outcomes when detected and treated in the first 30-45 days of life. This review examines different methods to screen newborns for biliary atresia as well as discusses observations from ongoing screening programs implemented in parts of the United States.
Recent Findings:
Screening strategies for biliary atresia include detecting persistent jaundice, examining stool color, testing fractionated bilirubin levels, or measuring bile acid levels from dried blood spot cards. The stool color card program is the most widely used screening strategy worldwide. An alternative approach under investigation in the United States measures fractionated bilirubin levels, which are abnormal in newborns with biliary atresia. Fractionated bilirubin screening programs require laboratories to derive reference ranges, nurseries to implement universal testing, and healthcare systems to develop infrastructure that identifies and acts upon abnormal results. Biliary atresia meets the disease-specific criteria for newborn screening. Current studies focus on developing a strategy which also meets all test-specific criteria. Such a strategy, if implemented uniformly, has the potential to accelerate treatment and reduce biliary atresia's large liver transplant burden.
