Antenatally diagnosed congenital chloride diarrhea with a de novo mutation: The first reported case from Azerbaijan

A case study reveals a prenatal diagnosis of congenital chloride diarrhea (CCD) in a consanguineous couple’s fetus. Despite successful amnioreduction, persistent polyhydramnios led to genetic testing. A multidisciplinary approach involved obstetricians, geneticists, and neonatologists. Whole-exon sequencing identified a homozygous de novo SLC26A3 gene mutation. Treatment included oral electrolyte supplementation and lansoprazole, resulting in improvement. The case underscores the importance of early detection and intervention in managing CCD. Healthcare providers should consider early prenatal screening, including advanced genetic testing such as whole-exon sequencing, for couples with consanguineous relationships due to the association of congenital chloride diarrhea with such unions. A multidisciplinary approach involving obstetricians, geneticists, and neonatologists is crucial for comprehensive management, emphasizing the need for close collaboration among healthcare professionals.