Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

Duguépéroux, I.; Scotet, Virginie; Audrézet, Marie-Pierre; Saliou, Anne-Hélène; Collet, M.; Blayau, Martine; Schmitt, Sébastien; Kitzis, Alain; Fresquet, Fleur; Müller, Françoise; Férec, Claude

doi:10.1002/pd.2866

Cited by 14 publications

(18 citation statements)

References 36 publications

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“…In contrast to previous studies [6,11,22], we did not identify CF in our cohort. This may be explained by the high compliance of our study population to the recommendation to undergo preconception or first-trimester genetic screening tests, including the CFTR gene mutations among the tests recommended by the Israeli Genetic Association.…”

Section: Discussioncontrasting

confidence: 55%

“…Its absence raises diagnostic questions. It is most important to differentiate between isolated agenesis of the fetal gallbladder, which is considered to be a benign finding [8], and severe diseases such as BA, CF, and other gastrointestinal tract anomalies [10,11,13]. BA is considered to be the leading indication for liver transplantation in childhood [9].…”

Section: Discussionmentioning

confidence: 99%

“…Nonvisualization of the fetal gallbladder (NVFGB) may indicate gallbladder agenesis, without any serious clinical sequel [8], or it may be associated with a severe disorder such as extrahepatic biliary atresia (BA) [9,10], cystic fibrosis (CF) [11], chromosomal abnormalities [1,7,12], or other digestive tract disorders carrying a poor prognosis [13,14]. …”

Section: Introductionmentioning

confidence: 99%

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Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ

Bardin¹,

Ashwal‏²,

Davidov³

et al. 2015

Fetal Diagn Ther

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Objective: In cases of nonvisualization of the fetal gallbladder (NVFGB), we investigated whether amniotic fluid levels of γ-glutamyl transpeptidase (GGTP) can distinguish normal development or benign gallbladder agenesis from severe anomaly such as biliary atresia. Methods: This is a retrospective cohort study of pregnancies in which the gallbladder was not visualized in the second-trimester fetal anatomy scan. Levels of GGTP in amniotic fluid were analyzed prior to 22 weeks of gestation by amniocentesis. Data were collected regarding other fetal malformations, fetal karyotype, and screening results for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. Results: Of 32 cases of NVFGB, 27 (84%) had normal GGTP levels and a normal CFTR gene screening, and 1 of them had an abnormal karyotype. Three of the 5 cases with low GGTP were diagnosed with extrahepatic biliary atresia, proven by histopathological examination following termination of pregnancy. The fourth case had hepatic vasculature abnormality and the fifth isolated gallbladder agenesis. In 22 of 32 cases (68.7%), the gallbladder was detected either later in pregnancy or after delivery. Conclusion: The findings support low levels of GGTP in amniotic fluid, combined with NVFGB, as a sign of severe disease, mainly biliary atresia. Normal GGTP levels, concomitant with isolated NVFGB, carry a good prognosis.

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Section: Discussioncontrasting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ

Bardin¹,

Ashwal‏²,

Davidov³

et al. 2015

Fetal Diagn Ther

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“…Previous studies reported that various ultrasound digestive abnormalities (USDA), including fetal echogenic bowel (FEB) and fetal intestinal loop dilatation (FILD), may lead to the prenatal diagnosis of CF in 1-7.6% of the cases, especially during the second trimester of pregnancy [4][5][6]. Nonvisualization of the fetal gallbladder (NVFGB) was also reported in affected fetuses, mostly in association with FEB [6][7][8]. Not surprisingly, the triad FEB-FILD-NVFGB had the highest predictive value for CF (likelihood ratio 31.40) [6].…”

Section: Introductionmentioning

confidence: 99%

“…However, it was rarely found as an isolated sign in CF fetuses. In distinct ultrasound (US) series including 226 cases of isolated NVFGB, only 6 CF cases were reported [7][8][9][14][15][16]. Furthermore, in the largest series of 694 cases of USDA who had comprehensive CFTR gene studies, no fetus among the 30 CF cases was found with isolated NVFGB [6].…”

Section: Introductionmentioning

confidence: 99%

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis

Bergougnoux¹,

Jouannic²,

Verneau³

et al. 2018

Fetal Diagn Ther

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Background: Cystic fibrosis (CF) can be revealed during fetal life by diverse ultrasound digestive abnormalities (USDA) such as fetal echogenic bowel or fetal intestinal loop dilatation, nonvisualization of the fetal gallbladder (NVFGB) being rarely observed in isolation. Only 6 cases of CF revealed by isolated NVFGB have been reported so far in the literature. Furthermore, recent studies suggested that this sign is of poor predictive value for CF. Methods: We report on the results of a 6-year French tricenter study on 1,124 cases of fetal USDA for whom a comprehensive molecular study was performed for CF. Results: Among the 37 CF fetuses, 5 (13.5%) presented with isolated NVFGB at ultrasound (US) examination at 24–31 weeks of gestation. This sign was more frequently observed in CF fetuses than in non-CF fetuses, with a likelihood ratio of 2.7. The genotypes included three c.1521_1523del (F508del) homozygous cases and two compound heterozygous cases for a frequent and a rare CF-causing variant. Discussion: These observations highlight the importance to report on the presence and aspect of the fetal gallbladder at the second trimester US scan and to consider prenatal CFTR molecular analysis in cases of isolated NVFGB.

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Outcomes of pregnancies diagnosed with absent or abnormal fetal gallbladder in a tertiary center

Karataş,

Tanaçan,

Özkavak

et al. 2024

Intl J Gynecology & Obste

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ObjectiveThe objective of this study was to investigate the ultrasonographic characteristics and outcomes of fetuses with atypical and non‐visualized fetal gallbladder in our tertiary care hospital.MethodsA retrospective analysis was conducted on cases in which the fetal gallbladder was not visualized or exhibited atypical characteristics at our institution over a four‐year period. The patients were divided into two groups: absent gallbladder and atypical gallbladder. The groups with isolated and additional anomalies were analyzed according to their ante‐ and postnatal characteristics.ResultsThe study comprised 78 patients (37 absent, 41 atypical gallbladder). In the isolated fetal absence of gallbladder group, the gallbladder was visualized in three of 13 patients during antenatal ultrasonographic follow‐up and in half of the remaining 10 patients during postnatal follow‐up. In the postnatal period, five newborns with absent isolated gallbladder are being followed up with suspicion of biliary atresia and isolated gallbladder agenesis. In the absence of a gallbladder with an additional anomaly group, 58% of fetuses died during the intrauterine and neonatal period. Fetuses in the isolated atypical gallbladder group are being followed as healthy after birth. Pregnancies with atypical gallbladder appearance and additional anomalies resulted in 33% neonatal death, 12% intrauterine demise, and 25% termination of pregnancy.ConclusionIn instances where the fetal gallbladder is not consistently discernible, it is imperative to exercise caution with regard to the possibility of biliary atresia. In the event that the fetal gallbladder exhibits unusual characteristics, a meticulous examination for the presence of additional anomalies is recommended.

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Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

Abstract: Ultrasonographic evidence of NVFGB is an additional risk factor for CF in cases with FEB.

Cited by 14 publications

References 36 publications

Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ

Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis

Outcomes of pregnancies diagnosed with absent or abnormal fetal gallbladder in a tertiary center

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Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

Abstract: Ultrasonographic evidence of NVFGB is an additional risk factor for CF in cases with FEB.

Cited by 14 publications

References 36 publications

Nonvisualization of the Fetal Gallbladder: Can Levels of &#947;-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis&#947;

Nonvisualization of the Fetal Gallbladder: Can Levels of &#947;-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis&#947;

Isolated Nonvisualization of the Fetal Gallbladder Should Be Considered for the Prenatal Diagnosis of Cystic Fibrosis

Outcomes of pregnancies diagnosed with absent or abnormal fetal gallbladder in a tertiary center

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Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ

Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ