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

Bardin, Ron; Ashwal‏, Eran; Davidov, Bella; Danon, D.; Shohat, Mordechai; Meizner, Israel

doi:10.1159/000430440

Cited by 19 publications

(25 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Moreover, isolated NVFGB appeared as a frequent USDA sign in CF fetuses in our study, observed in 13.5% of cases (5/37). This adds noticeable observations to the few published cases [7][8][9][14][15][16] (Table 2) and challenges the value of this sign for the diagnosis of CF, with a likelihood ratio of 2.7 of this sign being found in CF fetuses, as compared with 0 in de Becdelièvre et al [6]. This figure is similar to the likelihood ratio evaluated for FEB-FILD and FEB-NVFGB [6].…”

Section: Discussionsupporting

confidence: 71%

“…Isolated NVFGB, which has been reported in 0.1-7.1% of pregnancies [9][10][11], notably depending on gestational term at detection, is most often benign: the fetal gallbladder (FGB) may be present but not filled and visualized later, even after birth, or this pattern could correspond to benign gallbladder agenesia. NVFGB could also correspond to severe conditions such as biliary atresia or CF [8,[12][13][14]. However, it was rarely found as an isolated sign in CF fetuses.…”

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%

See 2 more Smart Citations

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 71%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

View full text Add to dashboard Cite

show abstract

“…Among the remaining 54 cases, a chromosomal anomaly was detected in 11 (20.4%) cases. In fetuses with isolated NVFGB, the pooled incidence of chromosomal anomaly was 1.9% (95% CI, 0.5–4.1%), including a case of 14q32.1 duplication, a case of 47XXX karyotype and a case of microduplication of chromosome 16p11.2. Of note, in the series of Sagi‐Dain et al ,.…”

Section: Resultsmentioning

confidence: 93%

Outcome of non‐visualization of fetal gallbladder on second‐trimester ultrasound: cohort study and systematic review of literature

Pasquo

Kuleva

Rousseau

et al. 2019

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

Objectives To investigate the ultrasound characteristics and outcome of fetuses with non‐visualization of the fetal gallbladder (NVFGB) followed in our tertiary university hospital, and to provide a comprehensive review of the literature on prenatal findings and outcome of NVFGB. Methods NVFGB was defined as non‐visualization of the gallbladder on two targeted ultrasound examinations performed within a 1‐week period. First, we reviewed the medical records of NVFGB cases managed in our center over a 9‐year period. Then, we performed a systematic review of the literature to identify studies on NVFGB. The incidence of chromosomal anomalies, later visualization of the gallbladder, gallbladder agenesis, cystic fibrosis and biliary atresia was assessed in fetuses with isolated and non‐isolated NVFGB. The role of hepatic enzyme measurements in the diagnosis of cystic fibrosis and biliary atresia in fetuses with NVFGB was also reviewed. Results Sixteen cases of NVFGB were followed in our center, in 10 (62.5%) of which it was an isolated finding. The incidence of biliary atresia was 12.5% and that of gallbladder agenesis was 12.5%, while no case of cystic fibrosis was reported. The gallbladder was visualized later in pregnancy or postnatally in 43.8% and 25.0% of cases, respectively. A total of seven studies, including our cohort, involving a total of 280 NVFGB cases, met the inclusion criteria for the systematic review. Overall, 20.5% of fetuses had an associated ultrasound anomaly, and the incidence of chromosomal anomaly in this group was 20.4%. In cases with isolated NVFGB, the incidence of chromosomal anomaly was 1.9%. In fetuses with normal karyotype and isolated NVFGB, the gallbladder was later visualized in 70.4% of cases, while the incidence of gallbladder agenesis, cystic fibrosis and biliary atresia was 25.2%, 3.1% and 4.8%, respectively. In fetuses with non‐isolated NVFGB, the incidence of cystic fibrosis and biliary atresia was 23.1% and 18.2%, respectively. The negative predictive value of amniotic fluid enzyme levels for the prediction of severe disease (including biliary atresia or cystic fibrosis) ranged between 94% and 100% when evaluated before 22 weeks' gestation, and dropped to 88% after 22 weeks. Conclusions In cases with persistent NVFGB, the risk of a severe postnatal condition should be considered. A detailed ultrasound scan should be offered and parents tested for cystic fibrosis gene mutation. An invasive procedure for karyotyping and measurement of liver enzyme concentrations before 22 weeks constitutes a reasonable work‐up. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

show abstract

“…Although the levels of digestive enzymes could not distinguish between cystic fibrosis and BA, they were helpful in detecting severe cases vs cases with a good prognosis, such as GB agenesis or subsequent GB detection. In a study of 32 cases with non‐visualized fetal GB in which amniocentesis was performed between 17 and 22 gestational weeks, abnormal GGTP level had a sensitivity of 80% and a specificity of 96% in predicting serious morbidity …”

Section: Absent Gallbladdermentioning

confidence: 99%

Prenatal sonographic diagnosis of biliary tract malformations

Koukoura

Kelesidou

Delianidou

et al. 2019

J of Clinical Ultrasound

View full text Add to dashboard Cite

Congenital anomalies of the biliary tract include a variety of pathologic conditions, such as biliary atresia, choledochal cysts, gallbladder agenesis, congenital cholelithiasis, and gallbladder duplication. Although most of these malformations are rare and benign conditions, they may occasionally represent a major threat to extrauterine life. Visualization of a normal‐sized gallbladder should be a mandatory component of the second‐trimester anomaly ultrasound scan. Advances in prenatal sonography enable the detection of biliary tract congenital malformations. In this review, we discuss the detection rates, sonographic features, and prognosis of the most frequently prenatally diagnosed biliary tract malformations.

show abstract

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

Cited by 19 publications

References 22 publications

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

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

Outcome of non‐visualization of fetal gallbladder on second‐trimester ultrasound: cohort study and systematic review of literature

Prenatal sonographic diagnosis of biliary tract malformations

Contact Info

Product

Resources

About