Table 1.

Sensitivity and use of genetic and ultrasonographic age-dependent diagnostic information when screening for the presence of ADPKDa

ParameterFetalChildhood (0 to 15 Yr)Young Adulthood (15 to 30 Yr)Adulthood >30 Yr
Genetic testingLinkage markers or mutation-specific screeningFull sequencing, DHPLC or mutation-specific screening (75% sensitivity)Full sequencing, DHPLC (75% sensitivity) or mutation-based screen; less sensitive than ultrasound at age >20 yr PKD1Potential prognostic information based on genotypic prediction; less sensitive than ultrasound for diagnosis
Ultrasound findingsEnlarged, hyperechoic after gestational week 17, normal amniotic fluid levels usually present, renal cysts (11%)Enlarged, discrete cysts, normal echogenicity, one cyst adequate to make a diagnosis in an at-risk individual (50% sensitivity); ultrasound less sensitive than genetic testing for PKD1 and PKD2Enlarged, discrete cysts, normal echogenicity, PKD2 67% sensitivity, PKD1 95% sensitivity; ultrasound less sensitive than genetic testing for PKD297 to 100% sensitive PKD1 and PKD2, at least two cysts in each kidney needed for a diagnosis; kidney enlargement is uniformly present
  • a ADPKD, autosomal dominant polycystic kidney disease.