Current Status of Prenatal Diagnosis and Heterozygote Detection of Cystic Fibrosis


The hallmark for the laboratory diagnosis of cystic fibrosis is an increased sodium and chloride concentration in the exocrine secretory fluid, sweat. This abnormality is an early and invariable consequence of the cystic fibro sis gene in homozygous, affected individuals but is not a suitable diagnostic marker for detection of the heterozygote. In the past five years, laboratory investigations of ion transport in cultured skin fibroblasts and evaluations of the effects ofthe Na+,K+-ATPase inhibitor, ouabain, suggested that cellular expression of the electrolyte transport defect in cystic fibrosis might be detectable in vitro. Enhanced resistance of fibroblasts from cystic fibrosis patients to the cytotoxic effects of ouabain and dexamethasone and abnor malities in fibroblast sodium transport have been reported as has a differ ence in calcium transport in these cells. Confirmation is lacking both with regard to the diagnostic utility of these findings and to the relationship of the phenom ena to the expression of the cystic fibrosis gene

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