Gaillard D
Unité de Pathologie du Développement, Génétique et Diagnostic Prénatal, HMB INSERM U 314, IFR 53, CHU, Reims.
Ann Pathol. 1997 Sep;17(4):306-8.
Meconium ileus represents a functional disorder mainly detected during the second trimester of gestation. The diagnosis can be recognized by bowel hyperechogenicity or by the pathologist after a systematic examination. It must lead to etiologic diagnosis and specific investigations according to the history. Even in absence of family history, cystic fibrosis must be considered with pancreatic study and with frozen fetal material in order to be able to search for the most common mutations. Meconium ileus can also be associated with infection, fetal blood swallowing, chromosomal aberrations and multiple fetal abnormalities. Only good investigations for specific diagnosis can lead to a genetic counsel and a good follow up of the next gestation.
胎粪性肠梗阻是一种主要在妊娠中期被检测到的功能性疾病。可通过肠道高回声或经病理学家系统检查后做出诊断。必须根据病史进行病因诊断和特异性检查。即使没有家族史，也必须通过胰腺检查和冷冻胎儿组织来考虑囊性纤维化，以便能够查找最常见的突变。胎粪性肠梗阻还可能与感染、胎儿吞血、染色体畸变及多种胎儿异常有关。只有进行特异性诊断的良好检查才能提供遗传咨询并对下一胎进行良好的随访。
