Renal agenesis: Prenatal diagnosis
- Tulin Ozcan, MD
Tulin Ozcan, MD
- Associate Professor of Clinical Obstetrics and Gynecology in Surgery
- Center for Fetal Diagnosis and Treatment
- The Children's Hospital of Philadelphia
- Section Editors
- Deborah Levine, MD
Deborah Levine, MD
- Section Editor — Imaging
- Professor of Radiology
- Director of Ob/Gyn Ultrasound
- Department of Radiology
- Beth Israel Deaconess Medical Center
- Laurence S Baskin, MD, FAAP
Laurence S Baskin, MD, FAAP
- Section Editor — Pediatric Urology
- Frank Hinman, Jr, MD, Distinguished Professorship in Pediatric Urology
- Chief Pediatric Urology
- Professor of Urology and Pediatrics
- UCSF Benioff Children's Hospital
Developmental renal defects include: (1) bilateral/unilateral renal agenesis, (2) renal hypodysplasia characterized by a reduction in the number of nephrons leading to a small overall kidney size and frequent dysplasia with or without cysts, and (3) multicystic dysplastic kidney.
A kidney may be absent because it never developed (agenesis) or because of complete regression of a dysplastic kidney (aplasia). In the following topic review, the term renal agenesis will be used to refer to absent kidneys resulting from either of these etiologies (figure 1).
Renal agenesis may be either unilateral or bilateral. Bilateral renal agenesis is incompatible with extrauterine life because prolonged absence of amniotic fluid results in pulmonary hypoplasia leading to severe respiratory insufficiency at birth. The longest-surviving child lived 39 days . However, in a single case of bilateral renal agenesis managed in utero with serial amnioinfusion, survival at nine months was reported at the time of the publication .
Prior to the widespread use of prenatal ultrasonography and availability of legalized pregnancy termination in the United States, the incidence of bilateral renal agenesis was about 1 in 4000 births and about 1 in 250 autopsies of stillbirths and infant deaths [3,4]. It is 2.5 times more common in males than in females .
The incidence of unilateral renal agenesis is about 1 in 3000 live births .To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- DAVIDSON WM, ROSS GI. Bilateral absence of the kidneys and related congenital anomalies. J Pathol Bacteriol 1954; 68:459.
- Bienstock JL, Birsner ML, Coleman F, Hueppchen NA. Successful in utero intervention for bilateral renal agenesis. Obstet Gynecol 2014; 124:413.
- Whitehouse W, Mountrose U. Renal agenesis in nontwin siblings. Am J Obstet Gynecol 1973; 116:880.
- POTTER EL. BILATERAL ABSENCE OF URETERS AND KIDNEYS: A REPORT OF 50 CASES. Obstet Gynecol 1965; 25:3.
- Cardwell MS. Bilateral renal agenesis: clinical implications. South Med J 1988; 81:327.
- Laurichesse Delmas H, Kohler M, Doray B, et al. Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. Birth Defects Res 2017; 109:1204.
- Mesrobian HG, Rushton HG, Bulas D. Unilateral renal agenesis may result from in utero regression of multicystic renal dysplasia. J Urol 1993; 150:793.
- Slickers JE, Olshan AF, Siega-Riz AM, et al. Maternal body mass index and lifestyle exposures and the risk of bilateral renal agenesis or hypoplasia: the National Birth Defects Prevention Study. Am J Epidemiol 2008; 168:1259.
- Correa A, Gilboa SM, Besser LM, et al. Diabetes mellitus and birth defects. Am J Obstet Gynecol 2008; 199:237.e1.
- Dugoff L. Ultrasound diagnosis of structural abnormalities in the first trimester. Prenat Diagn 2002; 22:316.
- Rouse GA, Kaminsky CK, Saaty HP, et al. Current concepts in sonographic diagnosis of fetal renal disease. Radiographics 1988; 8:119.
- Gielchinsky Y, Zvanca M, Akolekar R, et al. Adrenal gland length in euploid and trisomy 18 fetuses at 11-13 weeks. Prenat Diagn 2011; 31:773.
- Sebire NJ, Von Kaisenberg C, Rubio C, et al. Fetal megacystis at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1996; 8:387.
- Braithwaite JM, Armstrong MA, Economides DL. Assessment of fetal anatomy at 12 to 13 weeks of gestation by transabdominal and transvaginal sonography. Br J Obstet Gynaecol 1996; 103:82.
- Hindryckx A, De Catte L. Prenatal diagnosis of congenital renal and urinary tract malformations. Facts Views Vis Obgyn 2011; 3:165.
- Wladimiroff JW. Effect of furosemide on fetal urine production. Br J Obstet Gynecol 1975; 82:2221.
- Raghavendra BN, Young BK, Greco MA, et al. Use of furosemide in pregnancies complicated by oligohydramnios. Radiology 1987; 165:455.
- Bronshtein M, Amit A, Achiron R, et al. The early prenatal sonographic diagnosis of renal agenesis: techniques and possible pitfalls. Prenat Diagn 1994; 14:291.
- Wiesel A, Queisser-Luft A, Clementi M, et al. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. Eur J Med Genet 2005; 48:131.
- Stoll C, Tenconi R, Clementi M. Detection of Congenital Anomalies by Fetal Ultrasonographic Examination across Europe. Community Genet 2001; 4:225.
- Hahn H, Park SY, Eom JH, Park SW. Quiz page. Congenital intrathoracic kidney after regression of an adrenal mass. Am J Kidney Dis 2009; 53:A27.
- Chow JS, Benson CB, Lebowitz RL. The clinical significance of an empty renal fossa on prenatal sonography. J Ultrasound Med 2005; 24:1049.
- van Vuuren SH, van der Doef R, Cohen-Overbeek TE, et al. Compensatory enlargement of a solitary functioning kidney during fetal development. Ultrasound Obstet Gynecol 2012; 40:665.
- Hill LM, Nowak A, Hartle R, Tush B. Fetal compensatory renal hypertrophy with a unilateral functioning kidney. Ultrasound Obstet Gynecol 2000; 15:191.
- Cho JY, Moon MH, Lee YH, et al. Measurement of compensatory hyperplasia of the contralateral kidney: usefulness for differential diagnosis of fetal unilateral empty renal fossa. Ultrasound Obstet Gynecol 2009; 34:515.
- Perlman S, Lotan D, Dekel B, et al. Prenatal compensatory renal growth in unilateral renal agenesis. Prenat Diagn 2016; 36:1075.
- Wladimiroff JW, Heydanus R, Stewart PA, et al. Fetal renal artery flow velocity waveforms in the presence of congenital renal tract anomalies. Prenat Diagn 1993; 13:545.
- DeVore GR. The value of color Doppler sonography in the diagnosis of renal agenesis. J Ultrasound Med 1995; 14:443.
- Sepulveda W, Stagiannis KD, Flack NJ, Fisk NM. Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios. Am J Obstet Gynecol 1995; 173:1788.
- Hoffman CK, Filly RA, Callen PW. The "lying down" adrenal sign: a sonographic indicator of renal agenesis or ectopia in fetuses and neonates. J Ultrasound Med 1992; 11:533.
- Droste S, Fitzsimmons J, Pascoe-Mason J, et al. Size of the fetal adrenal in bilateral renal agenesis. Obstet Gynecol 1990; 76:206.
- Brumfield CG, Guinn D, Davis R, et al. The significance of non-visualization of the fetal bladder during an ultrasound examination to evaluate second-trimester oligohydramnios. Ultrasound Obstet Gynecol 1996; 8:186.
- Fisk NM, Ronderos-Dumit D, Soliani A, et al. Diagnostic and therapeutic transabdominal amnioinfusion in oligohydramnios. Obstet Gynecol 1991; 78:270.
- Hawkins JS, Dashe JS, Twickler DM. Magnetic resonance imaging diagnosis of severe fetal renal anomalies. Am J Obstet Gynecol 2008; 198:328.e1.
- Gęca T, Krzyżanowski A, Stupak A, et al. Complementary role of magnetic resonance imaging after ultrasound examination in assessing fetal renal agenesis: a case report. J Med Case Rep 2014; 8:96.
- McPherson E. Renal anomalies in families of individuals with congenital solitary kidney. Genet Med 2007; 9:298.
- Cascio S, Paran S, Puri P. Associated urological anomalies in children with unilateral renal agenesis. J Urol 1999; 162:1081.
- Dursun H, Bayazit AK, Büyükçelik M, et al. Associated anomalies in children with congenital solitary functioning kidney. Pediatr Surg Int 2005; 21:456.
- Kaneyama K, Yamataka A, Satake S, et al. Associated urologic anomalies in children with solitary kidney. J Pediatr Surg 2004; 39:85.
- Westland R, Schreuder MF, Ket JC, van Wijk JA. Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. Nephrol Dial Transplant 2013; 28:1844.
- Robson WL, Leung AK, Rogers RC. Unilateral renal agenesis. Adv Pediatr 1995; 42:575.
- Cunningham BK, Khromykh A, Martinez AF, et al. Analysis of renal anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol 2014; 100:801.
- Bruce JH, Romaguera RL, Rodriguez MM, et al. Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal Pediatr Pathol 2009; 28:109.
- Rall K, Eisenbeis S, Henninger V, et al. Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome. J Pediatr Adolesc Gynecol 2015; 28:362.
- Kimberley N, Hutson JM, Southwell BR, Grover SR. Vaginal agenesis, the hymen, and associated anomalies. J Pediatr Adolesc Gynecol 2012; 25:54.
- Nicolaides KH, Cheng HH, Abbas A, et al. Fetal renal defects: associated malformations and chromosomal defects. Fetal Diagn Ther 1992; 7:1.
- Nicksa GA, Yu DC, Kalish BT, et al. Serial amnioinfusions prevent fetal pulmonary hypoplasia in a large animal model of oligohydramnios. J Pediatr Surg 2011; 46:67.
- Polzin WJ, Lim FY, Habli M, et al. Use of an Amnioport to Maintain Amniotic Fluid Volume in Fetuses with Oligohydramnios Secondary to Lower Urinary Tract Obstruction or Fetal Renal Anomalies. Fetal Diagn Ther 2017; 41:51.
- Johnson A, Luks FI. A cautionary note on new fetal interventions. Obstet Gynecol 2014; 124:411.
- Thomas AN, McCullough LB, Chervenak FA, Placencia FX. Evidence-based, ethically justified counseling for fetal bilateral renal agenesis. J Perinat Med 2017; 45:585.
- Carter CO, Evans K, Pescia G. A family study of renal agenesis. J Med Genet 1979; 16:176.
- Holmes LB. Prevalence, phenotypic heterogeneity and familial aspects of bilateral renal agenesis/dysgeneis. In: Genetics of Kidney Disorders, Bartsocas CS (Ed), Liss, New York 1989. p.1.
- Schwaderer AL, Bates CM, McHugh KM, McBride KL. Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia. Pediatr Nephrol 2007; 22:52.
- Roodhooft AM, Birnholz JC, Holmes LB. Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 1984; 310:1341.
- Hitchcock R, Burge DM. Renal agenesis: an acquired condition? J Pediatr Surg 1994; 29:454.
- Sarhan OM, Albedaiwi K, Al Harbi B, et al. Unilateral Renal Agenesis: Necessity of Postnatal Evaluation in a Contemporary Series. Urology 2016; 98:144.
- Brenner BM, Lawler EV, Mackenzie HS. The hyperfiltration theory: a paradigm shift in nephrology. Kidney Int 1996; 49:1774.
- Westland R, Schreuder MF, Bökenkamp A, et al. Renal injury in children with a solitary functioning kidney--the KIMONO study. Nephrol Dial Transplant 2011; 26:1533.
- Sharp DS, Ross JH, Kay R. Attitudes of pediatric urologists regarding sports participation by children with a solitary kidney. J Urol 2002; 168:1811.
- EMBRYOLOGY AND PATHOGENESIS
- Normal development of the urinary tract
- Abnormal development of the urinary tract
- RISK FACTORS
- SONOGRAPHIC EVALUATION OF THE FETAL URINARY TRACT
- Fetal kidneys and adrenal glands
- Fetal bladder
- Amniotic fluid volume
- PRENATAL DIAGNOSIS OF RENAL AGENESIS
- Renal findings
- - Color flow Doppler
- Adrenal gland findings
- Bladder findings
- Role of amnioinfusion
- Role of magnetic resonance imaging
- Differential diagnosis
- ASSOCIATED ABNORMALITIES
- Structural and genetic abnormalies
- Potter syndrome/sequence
- OBSTETRICAL MANAGEMENT
- Bilateral renal agenesis
- Unilateral renal agenesis
- SUMMARY AND RECOMMENDATIONS