[Diagnosis of meconium ileus]
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1Unité de Pathologie du Développement, Génétique et Diagnostic Prénatal, HMB INSERM U 314, IFR 53, CHU, Reims.
Abstract:
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.
Insights
Meconium ileus is a fetal bowel disorder diagnosed during pregnancy. Early, thorough investigation is crucial for identifying causes like cystic fibrosis and guiding genetic counseling for future pregnancies.
Area of Science:
- Perinatology
- Fetal Medicine
- Pediatric Surgery
Context:
- Meconium ileus is a functional bowel obstruction diagnosed in the second trimester of gestation.
- Diagnosis relies on identifying bowel hyperechogenicity or through pathological examination.
- It necessitates comprehensive etiologic investigations based on patient history.
Purpose:
- To outline the diagnostic approach to meconium ileus.
- To emphasize the importance of considering cystic fibrosis and performing pancreatic studies.
- To highlight associated conditions and the need for genetic counseling.
Summary:
- Meconium ileus diagnosis involves prenatal detection of bowel abnormalities.
- Cystic fibrosis is a primary consideration, requiring pancreatic studies and genetic mutation analysis.
- Associated conditions include infection, fetal blood swallowing, chromosomal aberrations, and multiple fetal abnormalities.
Impact:
- Accurate diagnosis of meconium ileus guides appropriate management and genetic counseling.
- Early identification of underlying causes like cystic fibrosis improves patient outcomes.
- Systematic investigation ensures comprehensive care and informed follow-up for subsequent pregnancies.
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