Update on polycystic kidney disease (hereditary): genetic diagnosis and counseling

Abstract

1. In prenatal and neonatal context, is ultrasonography sufficient to confirm the clinical diagnosis of autosomal recessive polycystic kidney disease (ARPKD)? a. Ultrasound examination is not the 1st investigation to be applied to fetuses and neonates with suspected disease. b. Yes, without the need for other tests. c. Renal ultrasound abnormalities are detectable from 32 weeks of gestation. d. Renal ultrasound abnormalities are detectable from the 13th week of pregnancy when the diagnosis was previously established in an affected sibling.