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Review
. 2021 Nov 24;23(12):28.
doi: 10.1007/s11894-021-00825-2.

Newborn Screening for Biliary Atresia: a Review of Current Methods

Tebyan Rabbani  1 , Stephen L Guthery  2 , Ryan Himes  3 , Benjamin L Shneider  4 , Sanjiv Harpavat  5
Affiliations
Review

Newborn Screening for Biliary Atresia: a Review of Current Methods

Tebyan Rabbani et al. Curr Gastroenterol Rep. .

Abstract

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.

Keywords: Bile acids; Conjugated bilirubin; Direct bilirubin; Jaundice; Pale stools; Stool color card.

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Conflict of interest statement

Conflicts of interest/Competing interests: SH is on a Data Safety Monitoring Board coordinated by Syneos Health, for a clinical trial that tests a therapy for biliary atresia.

Figures

Figure 1
Figure 1
Natural History of BA The natural history of BA is well-described. The disease starts with a “preclinical” phase in the first weeks of life. This follows the disease onset, which occurs at an unknown time but may be in utero, given gallbladder abnormalities early in the second trimester, low amniotic fluid gamma-glutamyl transferase levels in the mid-second trimester, and high fractionated bilirubin levels at birth [39]. After the preclinical phase, infants enter the clinical phase where they appear jaundiced and develop pale colored stools characteristic of biliary obstruction. Liver injury ensues, and, if untreated, BA will invariably lead to end-stage liver disease and death/need for liver transplant by 2 years of age [40].
Figure 2
Figure 2
Implementation of Newborn Screening for BA with Fractionated Bilirubin
See this image and copyright information in PMC

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