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Nonvisualization of fetal gallbladder: a case report and review of the literature

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(1)©. IC. C Ed ni. io. iz. zi. te rn a. In. al i. on. Revi ew.

(2) VISUALIZATION_Giacobbe.qxp:Layout 1. 11-10-2010. 12:31. Pagina 44. A. Giacobbe et al.. References. te. rn a. zi on al i. 11. Blazer S, Bronshtein M, Zimmer E et al. 2002. Nonvisualization of thefetal gallbladder in early pregnancy: comparison with clinical outcome. Radiology 224: 379–382. 12. Hertzberg BS, Kliewer MA, Maynor C et al. Nonvisualization of thr fetal gallbladder: frequency and prognostic importance. Radiology 199:679-682. 13. Ochshorn Y, Rosner G, Barel D, Bronshtein M, Muller aronY. 2007. Clinical evaluation of isolated nonvisualized fetal gallbladder. Prenat Diagn 27: 699–703. 14. Simon-Bouy B, Muller F, French Collaborative Group. 2002.Hyperechogenic foetal bowel and Down syndrome. Results of a French Collaborative study based on 680 prospective cases. Prenat Diagn 22: 189–192. 15. Ochshorn Y, Rosner G, Baret D et al.2007. Clinical evaluation of isolated nonvisualized fetal gallbladder. Prenat Diagn 27:699-703. 16. Muller F, Gauthier F, Laurent Jet al.1991. Amniotic fluid GGT and congenital extrahepatic biliary damage. Lancet 8735:232–233.. In. Management depends on the presence of associated malformations evidenced by US scan, parental screening for cystic fibrosis, fetal karyotyping, and assays of amniotic fluid digestive enzymes. The assays of digestive enzymes in amniotic fluid (GGTP gamma-glutamyltranspeptidase; LAP leucine-aminopeptidase) represents a preciuos aid and it is actually the only test that allows to point to a diagnosis. These digestive enzymes, synthesized by biliary epithelium and by enterocytes, are present in amniotic fluid from 12-13 weeks of gestation and gradually decreased to 24 weeks for the progressive maturation of anal membrane that became impermeable to digestive secretions. Every obstacle to intestinal transit impairs flow of digestive secretions to amniotic fluid. After 24 weeks of gestation these enzymes are present in amniotic fluid in low concentrations but it is very difficult to differentiate between abnormally low or physiologically low levels, although high values permits to excluding biliary atresia and cystic fibrosis. In particular, in biliary atresia amniotic levels of GGTP drop dramatically after 16 weeks of gestation (6) whereas in cystic fibrosis and intestinal atresia levels of all digestive enzymes fall sharply (3) Prenatal diagnosis of gallbladderʼs anomalies is very difficult because of their low incidence and because of amniotic fluid is rarely sampled to give information on digestive enzymes. In summary, nonvisualization of fetal gallbladder should be confirmed as soon as possible in order to perform an adequate management including serial ultrasound examinations and eventually amniocentesis for CFTR mutation screening, digestive enzymes assays and fetal karyotyping.. ©. C. IC. Ed. iz. io. ni. Conflict of Interest Statement The authors declare no conflict of interest.. 44. Journal of Prenatal Medicine 2010; 4 (3): 43-44.

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