[Fortuitous discovery in echography of an isolated fetal intra-abdominal hyperechogenic mass. 87 cases].
Having seen 87 cases we will now attempt to refine the management to be carried out when intra-abdominal hyperechogenic masses are found in the fetus. Before the 20th week of amenorrhoea (47 cases) amniocentesis can be used to study the digestive enzymes to determine the fetal karyotype. The normal results for intestinal enzymes makes it possible to rule out fetal cystic fibrosis. Three karyotype abnormalities were found in this series. After the 20th week (40 cases) intestinal enzymes cannot be interpreted. The diagnosis of cystic fibrosis then must rely on Delta F 508 mutation; but the absence of this mutation does not exclude cystic fibrosis. When ultrasound signs of intra-abdominal hyper-echogenicity are found the diagnosis of cystic fibrosis should not be thought of first, because in this series the majority of fetuses who had this sign were born without any malformation. Four cases of cystic fibrosis that were confirmed have been found but equally there were other serious malformations, three chromosome abnormalities, four intestinal atresias, ten unexplained intra-uterine deaths and one case of biliary duct atresia.
Biochimie, Hôpital Ambroise-Paré, Boulogne.
F
F
Muller
B
B
Simon-Bouy
M C
MC
Aubry
F
F
Duchatel
R
R
Bessis
J
J
Boué
D000649:Amniocentesis; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D004065:Digestive System Abnormalities; D005069:Evaluation Studies as Topic; D005260:Female; D005313:Fetal Death / Q000453:epidemiology; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000453:epidemiology; D005820:Genetic Testing; D006801:Humans; D011237:Predictive Value of Tests; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000592:standards*; D005723:gamma-Glutamyltransferase / Q000032:analysis
D005723:gamma-Glutamyltransferase
Découverte fortuite à l'échographie d'une hyperéchogénicité intra-abdominale foetal isolée. A propos d'une série de 87 cas.