Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm

Arch Gynecol Obstet. 2023 Oct;308(4):1287-1300. doi: 10.1007/s00404-022-06814-8. Epub 2022 Oct 31.


Purpose: Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm.

Methods: Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities.

Results: Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel-Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick-Kaufman- and Bardet-Biedl syndrome, overgrowth syndromes, Mainzer-Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%).

Conclusion: Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.

Keywords: ADPKD; ARPKD; Ciliopathies; Corticomedullary differentiation; Hyperechogenic kidneys.

Publication types

  • Observational Study

MeSH terms

  • Algorithms
  • Amniotic Fluid / diagnostic imaging
  • Female
  • Humans
  • Kidney / abnormalities
  • Kidney / diagnostic imaging
  • Polycystic Kidney Diseases* / diagnostic imaging
  • Polycystic Kidney, Autosomal Dominant*
  • Polycystic Kidney, Autosomal Recessive*
  • Pregnancy
  • Ultrasonography, Prenatal

Supplementary concepts

  • Meckel syndrome type 1