The diagnosis of congenital renal anomalies with ultrasound. II. Infantile polycystic kidney disease.

Infantile polycystic kidney disease in an autosomal recessive disorder which in its severe form is characterized by bilateral renal enlargement and renal failure. The present study was undertaken to assess the diagnostic accuracy of antenatal sonography in a population at risk. Nineteen patients with fetuses at risk for infantile polycystic kidney disease were referred for ultrasound examination to the Perinatal Unit at Yale-New Haven Hospital. Ten infants had infantile polycystic kidney disease (53%). A positive antenatal sonographic diagnosis was made by the presence of oligohydramnios, an absent urinary bladder, bilateral renal enlargement as measured by the kidney circumference-to-abdominal circumference ratio, and the typical hyperechogenic appearance of the kidneys in the disease. A correct antenatal diagnosis was made in nine of the 10 affected infants. There were no false positive diagnoses. A false negative diagnosis occurred in an infant with a less severe form of the disease. Ultrasound is a valuable tool in the antenatal diagnosis of infantile polycystic kidney disease.