Biliary Atresia as a Disease Starting In Utero

Mysore, Krupa; Shneider, Benjamin L.; Harpavat, Sanjiv

doi:10.1097/mpg.0000000000002450

Cited by 44 publications

(37 citation statements)

References 66 publications

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“…Even now, histological, or anatomical diagnostic tests that can precisely distinguish BA are still needed. Intraoperative cholangiography (which can be undertaken laparoscopically) was considered a definitive and gold standard for diagnosing BA until the twenty-first century ( 7 – 9 ). This technique, however, from the beginning has been reported to lead to misdiagnoses in 1967 ( 10 ), and this situation is now revealed by an increasing number of studies ( 11 – 17 ).…”

Section: Introductionmentioning

confidence: 99%

Re-evaluation of Laparoscopic Hepatic Subcapsular Spider-Like Telangiectasis Sign: A Highly Accurate Method to Diagnose Biliary Atresia in Infants

Rong

Tang

et al. 2022

Front. Pediatr.

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ObjectiveOperative cholangiography, the gold standard for the diagnosis of biliary atresia (BA), is being challenged due to an increase in the studies of misdiagnosis. A previous study has shown that the laparoscopic hepatic subcapsular spider-like telangiectasis (HSST) sign was accurate for diagnosing BA. This study aims to compare the performance of the HSST sign with cholangiography in the identification of BA.MethodsWe prospectively screened consecutive infants with cholestasis who underwent laparoscopic exploration in this multicenter study. Demographics, intraoperative findings (videos and images), and outcomes were retrospectively analyzed. The data of the HSST sign and cholangiography were compared according to the final diagnosis. Then, the diagnostic accuracy of the BA using the HSST sign and cholangiography was validated in other independent cohorts.ResultsA total of 2,216 patients were enrolled in this study. The sensitivity and negative predictive values were both 100% for diagnosing BA based on the HSST sign and cholangiography. The specificity, negative predictive value, and accuracy of the HSST sign (97.2, 99.2, 99.3%) in discriminating BA were significantly higher than operative cholangiography (81.6, 94.9, 95.8; p < 0.001). Moreover, to realize the early diagnosis of BA, the accuracy of the HSST sign in identifying BA was better than cholangiography in the subgroup of neonates (98.7% vs. 95.0%; p = 0.032). Interestingly, 92 non-BA patients without the HSST sign had positive cholangiography. Among them, 28 infants had negative cholangiography when the common bile duct was compressed and 39 patients displayed visible bile ducts due to repeated postoperative biliary irrigation. The other 25 patients (18 with the Alagille syndrome, 5 with progressive familial intrahepatic cholestasis, and 2 with the neonatal hepatitis syndrome) had consistently positive cholangiography. In the independent validation cohort, the diagnostic accuracy of the HSST sign (99.2%) was higher than cholangiography (95.0%, p = 0.012).ConclusionThe laparoscopic HSST sign is superior to cholangiography in the diagnosis of BA in the infants with cholestasis and has advantages in early diagnosis. This method is expected to become a novel shift for diagnosing BA during ongoing laparoscopy.

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Section: Introductionmentioning

confidence: 99%

Re-evaluation of Laparoscopic Hepatic Subcapsular Spider-Like Telangiectasis Sign: A Highly Accurate Method to Diagnose Biliary Atresia in Infants

Rong

Tang

et al. 2022

Front. Pediatr.

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“…Patients with BASM could have polysplenia, asplenia or double spleen, situs inversus with and without malrotation; preduodenal portal vein, a complete absence of intrahepatic vena cava and cardiac anomalies. According to some researchers [27,28] the association between BA and laterality defects of the abdominal viscera may suggest a defect in the embryonic development to explain the etiology of BASM. The bile duct development begins at 4 gestational weeks and ends at about 13 weeks; in the same period laterality defects, such as development of left-right axis reversal (GA 2-3 weeks), splenic malformations (GA 3-6 weeks), preduodenal portal vein (GA 4-8 weeks), and interrupted vena cava (GA 6-8 weeks) are thought to occur [27].…”

Section: Discussionmentioning

confidence: 99%

Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review

Trombetta

Fabbro²,

Demori³

et al. 2022

BMC Pregnancy Childbirth

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Background Monochorionic dizygotic twins are a rare condition, mostly related to assisted reproductive technology. This type of twinning is burdened by the same risk of pregnancy complications found in monochorionic monozygotic pregnancies. Case presentation We report a case of spontaneous monochorionic dizygotic twins sharing situs inversus abdominalis and isolated levocardia, with only one twin affected by biliary atresia with splenic malformation syndrome. We also conducted a literature review of the 14 available documented monochorionic dizygotic twin gestations spontaneously conceived. Conclusions It is still unclear how this unusual type of twinning can occur in spontaneous conception. The evidence so far suggest the importance to timely diagnose the chorionicity, in order to adequately manage the typical complications associated with monochorionicity.

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“…The second key evidential observation for the isolated form comes from the work of Sanjiv Harpavat’s group in Houston, Texas [ 53 ]. Initially, they retrospectively screened fractionated bilirubin levels in BA infants and showed that their direct conjugated bilirubin was abnormally elevated in all 34 BA patients at day 1 and 2 of life [ 54 ].…”

Section: Timing Of Disease Onsetmentioning

confidence: 99%

Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity

Davenport

Muntean

Hadžić

2021

JCM

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Biliary atresia (BA) is an obliterative condition of the biliary tract that presents with persistent jaundice and pale stools typically in the first few weeks of life. While this phenotypic signature may be broadly similar by the time of presentation, it is likely that this is only the final common pathway with a number of possible preceding causative factors and disparate pathogenic mechanisms—i.e., aetiological heterogeneity. Certainly, there are distinguishable variants which suggest a higher degree of aetiological homogeneity such as the syndromic variants of biliary atresia splenic malformation or cat-eye syndrome, which implicate an early developmental mechanism. In others, the presence of synchronous viral infection also make this plausible as an aetiological agent though it is likely that disease onset is from the perinatal period. In the majority of cases, currently termed isolated BA, there are still too few clues as to aetiology or indeed pathogenesis.

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Biliary Atresia as a Disease Starting In Utero

Cited by 44 publications

References 66 publications

Re-evaluation of Laparoscopic Hepatic Subcapsular Spider-Like Telangiectasis Sign: A Highly Accurate Method to Diagnose Biliary Atresia in Infants

Re-evaluation of Laparoscopic Hepatic Subcapsular Spider-Like Telangiectasis Sign: A Highly Accurate Method to Diagnose Biliary Atresia in Infants

Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review

Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity

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