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Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
Published on: June 10, 2022
[Pathohistological changes in fetuses with cystic fibrosis]
Matilda Dolai1, Tamara Bosković, Aleksandra Levakov
1Klinicki centar Vojvodine, Centar za patblogiju i histologiju, Medicinski fakultet Novi Sad. djolaim@gmail.com
Insights
This study reports a rare case of cystic fibrosis (CF) diagnosed in a 5-month-old fetus, showing early intestinal obstruction and pancreatic changes. This finding is unusual for the fetal stage, suggesting earlier onset of CF pathology.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pathology
Background:
- Cystic fibrosis (mucoviscidosis) is a genetic disorder characterized by progressive disease intensity and histopathological changes.
- Typically, CF-related pathological changes are observed around the sixth month of life.
Observation:
- A 5-lunar month-old fetus diagnosed with cystic fibrosis via amniocentesis underwent medically indicated preterm labor.
- Autopsy and histopathological analysis revealed typical CF changes in the pancreas and intestines.
Findings:
- The fetus presented with meconial obstruction, an intestinal blockage common in late fetal CF cases.
- Unusually for a 5-month fetus, typical acidophilic content was observed in pancreatic secretory ducts and acini, indicating early exocrine gland involvement.
Implications:
- This case highlights the potential for earlier onset of cystic fibrosis-related morphological changes than previously documented.
- Early detection of fetal cystic fibrosis may necessitate revised diagnostic and management strategies.
Introduction:
Cystic fibrosis or mucoviscidosis is a genetically caused disease. The intensity of disease and histopathological changes grow throughout the life. According to the literature, pathological changes characteristic of cystic fibrosis become noticeable around the sixth month of life.
Case Report:
After amniocentesis of a 5-lunar month-old fetus had been done, which confirmed cystic fibrosis, the Ethics Commission approved the preterm labor. The autopsy and histopathological analysis demonstrated the existence of typical histopathological changes in the pancreas and intestines.
Discussion:
In the late fetal period or during the period around the delivery, cystic fibrosis is usually manifested as meconial cap with or without obstruction of the intestinal lumen. Morphological changes in the exocrine glands usually develop only after birth. In this case, the existence of meconial obstruction, as well as the typical acidofil content in the secretory ducts and acini of the pancreas was confirmed, which is unusual for the fetal age of five months.
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