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Congenital chloride diarrhea: possibility for prenatal diagnosis
Acta Paediatrica Scandinavica
|November 1, 1980
Summary
Congenital chloride diarrhea (C.C.D.) diagnosis is challenging due to lack of prenatal methods. This study confirms intrauterine diarrhea onset using amniofoetography and elevated amniotic fluid markers.
Area of Science:
- Medical Genetics
- Fetal Medicine
- Pediatric Gastroenterology
Background:
- Congenital chloride diarrhea (C.C.D.) is a rare genetic disorder affecting intestinal ion transport.
- Currently, no established methods exist for prenatal diagnosis of C.C.D.
Observation:
- Two pregnancies involving infants with C.C.D. are presented.
- Intrauterine onset of diarrhea was visualized via amniofoetography.
- Elevated bilirubin levels were observed in amniotic fluid.
Findings:
- Amniofoetography confirmed intrauterine diarrhea in C.C.D. cases.
- High bilirubin values in amniotic fluid were associated with C.C.D.
- Abnormally high amniotic fluid alpha-fetoprotein (A.F.P.) was detected at 29 weeks gestation in one case.
Implications:
- These findings suggest potential markers for prenatal detection of C.C.D.
- Amniofoetography and amniotic fluid analysis may aid in diagnosing C.C.D. prenatally.
- Further research is needed to validate these markers for routine prenatal screening.