[Diagnosis of meconium ileus]

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.