Congenital chloride diarrhea: possibility for prenatal diagnosis

Two pregnancies, which resulted in the births of infants affected by congenital chloride diarrhea (C.C.D.) are presented. No method is available for prenatal diagnosis of this disorder. In this paper the intrauterine onset of diarrhea is confirmed by amniofoetography and high bilirubin values in amniotic fluid. In the second case the amniotic fluid alpha-fetoprotein (A.F.P.) was detected to be abnormally high at the 29th gestational week.