CONGENITAL NEPHROSIS IN LOW-RISK PREGNANCIES

Congenital nephrosis is an autosomal recessive disorder requiring neon atal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be sus pected in the presence of a positive family history with an amniotic f luid (AF) alpha-fetoprotein level greater than 5 standard deviations ( SD) above the population mean accompanied by a negative AF acetylcholi nesterase, absent haemoglobin F, and an unremarkable fetal sonographic examination. We reviewed our series of seven cases of congenital neph rosis fulfilling the above criteria; four cases had negative family hi stories, and in two cases the diagnosis of congenital nephrosis was fu rther supported by the presence of elevated AF albumin concentrations. We conclude that (1) the prenatal diagnosis of congenital nephrosis i s feasible in a low-risk population, and (2) an elevated AF albumin co ncentration may represent an additional marker for the diagnosis of co ngenital nephrosis, even though false-negative results have been repor ted.