title: Prenatal diagnosis of cystic fibrosis: ultrasonography of the gallbladder at 17-19 weeks of gestation.
abstract: We have investigated the ultrasonographic signs that can help in the prenatal diagnosis of cystic fibrosis in 197 risk fetuses and compared them with 353 control fetuses. In 60 fetuses with a 1:4 risk for the disease, the gallbladder was also examined. All ultrasonograms were performed just before amniocentesis at 17-19 weeks of gestation. A previously described intra-abdominal hyperechogenic mass was found in 73% of the 48 affected fetuses, but 32 of the 149 unaffected fetuses also had this feature, giving a specificity of 77% and a sensitivity of 78%. When we investigated the gallbladder, we found 9 of the 12 affected fetuses to be without evidence of a gallbladder during the sonographic examination (none of the healthy or control fetuses had such a feature), giving a positive predictive value of 100%, a specificity of 100% and a sensitivity of 75%. The combined presence of an abnormal gallbladder and a hyperechogenic intra-abdominal mass yields the same positive predictive value and specificity, but does not improve the accuracy. Ultrasonography appears to be a good additional diagnostic tool for the prenatal diagnosis of cystic fibrosis, especially when the enzyme activities disagree. Furthermore, these results lead us to think that such a finding during routine ultrasonographic examination at 17-29 weeks could be a means of screening for cystic fibrosis. The absence of the gallbladder during the sonographic examination of fetuses at risk for cystic fibrosis at 17-19 weeks of gestation can help in the prenatal detection of the disease.
authors.affiliation: Service de Gynécologie Obstétrique, C.H. René-Dubos, Pontoise, France.
authors.forename: F
authors.initials: F
authors.lastname: Duchatel
authors.forename: F
authors.initials: F
authors.lastname: Muller
authors.forename: J F
authors.initials: JF
authors.lastname: Oury
authors.forename: B
authors.initials: B
authors.lastname: Mennesson
authors.forename: J
authors.initials: J
authors.lastname: Boue
authors.forename: A
authors.initials: A
authors.lastname: Boue
mesh_terms: D000005:Abdomen / Q000000981:diagnostic imaging; D003550:Cystic Fibrosis / Q000000981:diagnostic imaging*; D003951:Diagnostic Errors; D005069:Evaluation Studies as Topic; D005260:Female; D005704:Gallbladder / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal / Q000706:statistics & numerical data