Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease.

In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks). In the remaining affected case, normal kidney size and echogenicity were still present at 30 weeks of gestation. Fetal kidney enlargement and increased echogenicity are the key ultrasonographic signs for the detection of ARPKD. Absent fetal bladder filling and oligohydramnios were only documented in two of the six affected pregnancies. The variability in onset, the intrafamilial variability and the limitations of excluding ARPKD by second trimester ultrasound have to be considered when counselling a couple at risk for this particular disorder.