Ultrasound Diagnosis of Malformations of the Fetal Kidneys and Urinary System

Abstract

Malformations of the fetal kidneys and urinary system are common and easily visualized and diagnosed on ultrasound. This article presents the typical sonographic findings of these abnormalities during the various stages of pregnancy. Because malformations of the urogenital tract often have an association with genetic diseases/ciliopathies, these are also discussed. To complete the article, we provide a brief overview of the normal anatomy of the kidneys and urinary system. The normal anatomy and malformations of the genitalia will not be discussed in this article due to their complexity.

Publication History

Article published online:
28 September 2023

• Literatur

• 1 Geipel A. Normale Sonoanatomie im 2. Trimenon. In: Geipel A, Hoopmann M, Kagan KO. (Hrsg.) Kursbuch Ultraschall in der Gynäkologie und Geburtshilfe. 1. Aufl. Thieme Verlag Stuttgart; 2022: 51-62
• 2 Gembruch U. Niere und Urogenitaltrakt. In: Gembruch U, Steiner H, Hecher K. (Hrsg.) Ultraschalldiagnostik in Geburtshilfe und Gynäkologie. 2. Aufl. Springer Verlag Heidelberg; 2018: 295-358
• 3 Gottschalk I. Urogenitale Fehlbildungen. In: Geipel A, Hoopmann M, Kagan KO. (Hrsg.) Kursbuch Ultraschall in der Gynäkologie und Geburtshilfe. 1. Aufl. Thieme Verlag Stuttgart; 2022: 322-336
• 4 Kagan KO. Normale Sonoanatomie im ersten Trimenon. In: Geipel A, Hoopmann M, Kagan KO. (Hrsg.) Kursbuch Ultraschall in der Gynäkologie und Geburtshilfe. 1. Aufl. Thieme Verlag Stuttgart; 2022: 45-50
• 5 Volpe N, Sen C, Turan S. et al. First trimester examination of fetal anatomy: clinical practice guideline by the World Association of Perinatal Medicine (WAPM) and the Perinatal Medicine Foundation (PMF). Perinatal Journal 2022; 30: 87-102
• 6 von Kaisenberg C, Chaoui R, Häusler M. et al. Qualitätsanforderungen an die weiterführende differenzierte Ultraschalluntersuchung in der pränatalen Diagnostik (DEGUM Stufe II und III) im Zeitraum 11-13+6 Schwangerschaftswochen. Ultraschall in Med 2016; 37: 297-302
• 7 ISUOG Practice Guidelines (updated): performance of 11–14-week ultrasound scan. Ultrasound Obstet Gynecol 2022;
• 8 Kähler Ch, Schramm T, Bald R. et al. Aktualisierte Qualitätsanforderungen an die Ultraschall-Screeninguntersuchung in der pränatalen Basisdiagnostik (=DEGUM -Stufe I) im Zeitraum 18+0-21+6 Schwangerschaftswochen. Ultraschall in Med 2020; 41: 499-503
• 9 Merz E, Eichhorn KH, von Kaisenberg C. et al. Aktualisierte Qualitätsanforderungen an die weiterführende differenzierte Ultraschalluntersuchung in der pränatalen Diagnostik (=DEGUM – Stufe II)im Zeitraum 18+0 bis 21+6 Schwangerschaftswochen. Ultraschall in Med 2012; 33: 593-596
• 10 Al-Hamzi H, Dreux S, Delezoide A. et al. Outcome of prenatally detected bilateral higher urinary tract obstruction or megacystis: sex-related study on a series of 709 cases. Prenat Diagn 2012; 32: 649-654
• 11 Bildau J, Enzensberger C, Degenhardt J. et al. Lower Urinary Tract Obstruction (LUTO) – Krankheitsbild, pränatale Diagnostik und Therapiemöglichkeiten. Z Geburtsh Neonatol 2014; 218: 18-26
• 12 Eckoldt F, Heling KS. et al. Posterior Urethral Valves: Prenatal Diagnostic Signs and Outcome. Urol Int 2004; 73: 296-301
• 13 Fontanella F, Duin LK, Adama van Scheltema PN. et al. Prenatal diagnosis of LUTO: improving diagnostic accuracy. Ultrasound Obstet Gynecol 2018; 52: 739-743
• 14 Heling KS, Chaoui R. Fetale Fehlbildungen im ersten Trimester – Was sollte erkannt werden?. Der Gynäkologe 2021; 54: 673-687
• 15 Liao AW, Sebire NJ, Geerts L. et al. Megazystis at 10–14 Weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet Gynecol 2003; 21: 338-341
• 16 Malin G, Tonks AM, Morris RK. Congenital lower urinary tract obstruction: a population-based epidemiological study. BJOG 2012; 119: 1455-1464
• 17 Robyr R, Benachi A, Daikha-Dahmane F. et al. Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. Ultrasound Obstet Gynecol 2005; 25: 478-482
• 18 Meizner I, Yitzhak M, Levi A. et al. Fetal pelvic kidney: a challenge in prenatal diagnosis?. Ultrasound Obstet Gynecol 1995; 5: 391-393
• 19 Avni FE, Garel C, Cassart M. et al. Imaging and classification of congenital cystic renal disease. Am J Roentgenol 2012; 198: 1004-1013
• 20 Eckoldt F, Woderich R, Heling KS. Antenatal Diagnostic Aspects of Unilateral Multizystic Kidney Dysplasia – Sensitivity, Specificity, Predictive Values, Differential Diagnoses, Associated Malformations and Consequences. Fetal Diagn Ther 2004; 19: 163-169
• 21 Fu F, Chen F, Li R. et al. Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genom array. Nephrol Dial Transplant 2016; 31: 1693-1698
• 22 Gimpel C, Bergmann C, Brinkert F. et al. Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie). Klin Pädiatr 2020; 232: 228-248
• 23 Ickowicz V, Eurin D, Maugey-Laulom B. et al. Meckel-Gruber syndrome: sonography and pathology. Ultrasound Obstet Geynecol 2011; 27: 2-33
• 24 Schreuder MF, Westland R, van Wijk JAI. Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney. Nephrol Dial Transplant 2009; 24: 1810-1818
• 25 Chaumoitre K, Brun M, Cessart M. et al. Differential Diagnosis of fetal hyperechoic cystic kidneys unrelated to renal tract anomalies: a multicenter study. Ultrasound Obstet Gynecol 2006; 28: 911-917
• 26 Decramere S, Parant O, Beaufils S. et al. Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys. J Am Soc Nephrol 2007; 18: 923-933
• 27 Halvorson CR, Bremmer MS, Jacobs SC. Polycystic kidney disease: inheritance, pathophysiology, prognosis and treatment. Int J Nephrol Renovasc Dis 2010; 3: 69-83
• 28 Wiesel A, Queisser-Luft A, Clementi M. et al. EUROSCAN Study Group: Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709030 births in 12 European countries. Eur J Med Genet 2005; 48: 131-144
• 29 Whitten SM, McHoney M, Wilcox DT. et al. Accuracy of antenatal fetal ultrasound in the diagnosis of duplex kidneys. Ultrasound Obstet Gynecol 2003; 32: 342-346
• 30 Cohen-Overbeek TE, Wijngaard-Boom P, Ursem NTC. et al. Mild renal pylectasis in the second trimester: determination of cut-off levels for postnatal referral. Ultrasound Obstet Gynecol 2005; 25: 378-383
• 31 Nguyen HT, Benson CB, Bromley B. et al. Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilatation (UTD classification system). J Pediatr Urology 2014; 10: 982-999