[Pathohistological changes in fetuses with cystic fibrosis]

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.