Advertisement

Niere und Urogenitaltrakt

  • Ulrich Gembruch
Chapter

Zusammenfassung

In diesem Kapitel werden die Fehlbildungen der Nieren und ableitenden Harnwege (Ureter, Blase und Urethra), der inneren und äußeren Genitalien sowie der Nebennieren beschrieben.

Literatur

  1. Achiron R, Pinhas-Hamiel O, Zalel Y, Rotstein Z, Lipitz S (1998) Development of fetal male gender: prenatal sonographic measurement of the scrotum and evaluation of testicular descent. Ultrasound Obstet Gynecol 11:242–245PubMedCrossRefGoogle Scholar
  2. Agarwal SK, Fisk NM (2001) In utero therapy for lower urinary tract obstruction. Prenat Diagn 21:970–976PubMedCrossRefGoogle Scholar
  3. Allen AT, Dress AF, Moore WF (2007) Mirror syndrome resulting from metastatic congenital neuroblastoma. Int J Gynecol Pathol 26:310–312PubMedCrossRefGoogle Scholar
  4. Amsalem H, Fitzgerald B, Keating S, Ryan G, Keunen J, Pippi Salle JL, Berger H, Aiello H, Lucas O, Bernier F, Chitayat D (2011) Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases. Ultrasound Obstet Gynecol 37:678–683PubMedCrossRefGoogle Scholar
  5. Ashmead GG, Mercer B, Herbst M, Moodley J, Bota A, Elder JS (2004) Fetal bladder outlet obstruction due to ureterocele: in utero „colander“ therapy. J Ultrasound Med 23:565–568PubMedCrossRefGoogle Scholar
  6. Aslam M, Watson AR (2006) Unilateral multicystic dysplastic kidney: long term outcomes. Arch Dis Child 91:820–823PubMedPubMedCentralCrossRefGoogle Scholar
  7. Bagolan P, Giorlandino C, Nahom A, Bilancioni E, Trucchi A, Gatti C, Aleandri V, Spina V (2002) The management of fetal ovarian cysts. J Pediatr Surg 37:25–30PubMedCrossRefGoogle Scholar
  8. Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K (2005) APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie): Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 67:829–848PubMedCrossRefGoogle Scholar
  9. Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Büttner R, Zerres K (2011) Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 22:2047–2056PubMedPubMedCentralCrossRefGoogle Scholar
  10. Bernardes LS, Aksnes G, Saada J, Masse V, Elie C, Dumez Y, Lortat-Jacob SL, Benachi A (2009) Keyhole sign: how specific is it for the diagnosis of posterior urethral valves? Ultrasound Obstet Gynecol 34:419–423PubMedCrossRefGoogle Scholar
  11. Bernardes LS, Francisco RP, Saada J, Salomon R, Ruano R, Lortad-Jacob S, Zugaib M, Benachi A (2011) Quantitative analysis of renal vascularization in fetuses with urinary tract obstruction by three-dimensional power-Doppler. Am J Obstet Gynecol 205:572.e1–572.e7CrossRefGoogle Scholar
  12. Bernardes LS, Salomon R, Aksnes G, Lortat-Jacob S, Benachi A (2011) Ultrasound evaluation of prognosis in fetuses with posterior urethral valves. J Pediatr Surg 46:1412–1418PubMedCrossRefGoogle Scholar
  13. Blazer S, Zimmer EZ, Blumenfeld Z, Zelikovic I, Bronshtein M (1999) Natural history of fetal simple renal cysts detected in early pregnancy. J Urol 162:812–814PubMedCrossRefGoogle Scholar
  14. Bökenkamp A, Dieterich C, Dressler F, Mühlhaus K, Gembruch U, Bald R, Kirschstein M (2001) Fetal serum concentrations of cystatin C and beta2-microglobulin as predictors of postnatal kidney function. Am J Obstet Gynecol 185:468–475PubMedCrossRefGoogle Scholar
  15. Boyd PA, Tonks AM, Rankin J, Rounding C, Wellesley D, Draper ES (2011) BINOCAR Working Group: Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study. J Med Screen 18:2–7PubMedCrossRefGoogle Scholar
  16. Brancati F, Dallapiccola B, Valente EM (2010) Joubert syndrome and related disorders. Orphanet J Rare Dis 5:20PubMedPubMedCentralCrossRefGoogle Scholar
  17. Bureau M, Bolduc S (2011) Allantoic cysts and posterior urethral valves: a case report. Ultrasound Obstet Gynecol 38:116–118PubMedCrossRefGoogle Scholar
  18. Calvo-Garcia MA, Kline-Fath BM, Levitt MA, Lim FY, Linam LE, Patel MN, Kraus S, Crombleholme TM, Peña A (2011) Fetal MRI clues to diagnose cloacal malformations. Pediatr Radiol 41:1117–1128PubMedCrossRefGoogle Scholar
  19. Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF (2006) Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study. Ultrasound Obstet Gynecol 28:911–917PubMedCrossRefGoogle Scholar
  20. Chertin B, Pollack A, Koulikov D, Rabinowitz R, Hain D, Hadas-Halpren I, Farkas A (2006) Conservative treatment of ureteropelvic junction obstruction in children with antenatal diagnosis of hydronephrosis: lessions learned after 16 years of follow-up. Eur Urol 49:163–181CrossRefGoogle Scholar
  21. Chertin B, Pollack A, Koulikov D, Rabinowitz R, Shen O, Hain D, Hadas-Halpren I, Farkas A (2009) Does renal function remain stable after puberty in children with prenatal hydronephrosis and improved renal function after pyeloplasty? J Urol 182(4 Suppl):1845–1848PubMedCrossRefGoogle Scholar
  22. Clark TJ, Martin WL, Divakaran TG, Whittle MJ, Kilby MD, Khan KS (2003) Prenatal bladder drainage in the management of fetal lower urinary tract obstruction: a systematic review and meta-analysis. Obstet Gynecol 102:367–382PubMedGoogle Scholar
  23. Claus F, Hindryckx A, de Ravel T, Sandaite I, De Catte L (2011) Postmortem fetal imaging of a metabolic pluricystic kidney disease. Fet Diagn Ther 30:317–318CrossRefGoogle Scholar
  24. Cun L, Zhe M, Xinfeng Z, Guowei T, Shaoping L, Chuanxi L (2008) Fetal neuroblastoma with fetal hypertension. Ultrasound Obstet Gynecol 31:106–107PubMedCrossRefGoogle Scholar
  25. Dommergues M, Muller F, Ngo S, Hohlfeld P, Oury JF, Bidat L, Mahieu-Caputo D, Sagot P, Body G, Favre R, Dumez Y (2000) Fetal serum beta2-microglobulin predicts postnatal renal function in bilateral uropathies. Kidney Int 58:312–316PubMedCrossRefGoogle Scholar
  26. Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, García-Verdugo JM, Katsanis N, Bergmann C, Reiter JF (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet 89:94–110PubMedPubMedCentralCrossRefGoogle Scholar
  27. Ecder T, Schrier RW (2009) Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease. Nev Rev Nephrol 5:221–228CrossRefGoogle Scholar
  28. Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C (2008) Hepatocyte nuclear factor-1beta gene deletions – a common cause of renal disease. Nephrol Dial Transplant 23:627–635PubMedCrossRefGoogle Scholar
  29. Edouga D, Hugueny B, Gasser B, Bussières L, Laborde K (2001) Recovery after relief of fetal urinary obstruction: morphological, functional and molecular aspects. Am J Physiol Renal Physiol 281:F26–F37PubMedCrossRefGoogle Scholar
  30. England RJ, Haider N, Vujanic GM, Kelsey A, Stiller CA, Pritchard-Jones K, Powis M (2011) Mesoblastic nephroma: a report of the United Kingdom Children’s Cancer and Leukaemia Group (CCLG). Pediatr Blood Cancer 56:744–748PubMedCrossRefGoogle Scholar
  31. Fenghua W, Junjie S, Gaoyan D, Jiacong M (2009) Does intervention in utero preserve the obstructed kidneys of fetal lambs? A histological, cytological, and molecular study. Pediatr Res 66:145–148PubMedCrossRefGoogle Scholar
  32. Freedman AL, Johnson MP, Smith CA, Gonzalez R, Evans MI (1999) Long-term outcome in children after antenatal intervention for obstructive uropathies. Lancet 354:374–377PubMedCrossRefGoogle Scholar
  33. Gembruch U, Hansmann M (1988) Artificial instillation of amniotic fluid as a new technique for the diagnostic evaluation of cases of oligohydramnios. Prenat Diagn 8:33–45PubMedCrossRefGoogle Scholar
  34. Glick PL, Harrison MR, Adzick NS, Noall RA, Villa RL (1984) Correction of congenital hydronephrosis in utero IV: in utero decompression prevents renal dysplasia. J Pediatr Surg 19:649–657PubMedCrossRefGoogle Scholar
  35. Gorincour G, Rypens F, Toiviainen-Salo S, Grignon A, Lambert R, Audibert F, Garel L, Fournet JC (2006) Fetal urinoma: two new cases and a review of the literature. Ultrasound Obstet Gynecol 28:848–852PubMedCrossRefGoogle Scholar
  36. Hains DS, Bates CM, Ingraham S, Schwaderer AL (2009) Management and etiology of the unilateral multicystic dysplastic kidney: a review. Pediatr Nephrol 24:233–241PubMedCrossRefGoogle Scholar
  37. Han CCC, Woo BH, Tan JVK, Yeo GSH (2003) A single center review of antenatally diagnosed fetal echogenic kidney. Ultrasound Obstet Gynecol 22(suppl 1):16CrossRefGoogle Scholar
  38. Hansen WF, Cooper CS, Yankowitz J (2002) Ureterocele causing anhydramnios successfully treated with percutaneous decompression. Obstet Gynecol 99:953–956PubMedGoogle Scholar
  39. Harman CR (2008) Amniotic fluid abnormalities. Semin Perinatol 32:288–294PubMedCrossRefGoogle Scholar
  40. Hünseler C, Paneitz A, Friedrich D, Lindner U, Oberthuer A, Körber F, Schmitt K, Welzing L, Müller A, Herkenrath P, Hoppe B, Gortner L, Roth B, Kattner E, Schaible T (2011) Angiotensin II receptor blocker induced fetopathy: 7 cases. Klin Pädiatr 223:10–14PubMedCrossRefGoogle Scholar
  41. Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler MC, Laquerrière A, Avni EF (2006) Meckel-Gruber syndrome: sonography and pathology. Ultrasound Obstet Gynecol 27:296–300PubMedCrossRefGoogle Scholar
  42. Irazabal MV, Huston 3rd J, Kubly V, Rossetti S, Sundsbak JL, Hogan MC, Harris PC, Brown Jr RD, Torres VE (2011) Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 22:2047–2056CrossRefGoogle Scholar
  43. Isaacs Jr H (2007) Fetal and neonatal neuroblastoma: retrospective review of 271 cases. Fetal Pediatr Pathol 26:177–184PubMedCrossRefGoogle Scholar
  44. Isaacs Jr H (2008) Fetal and neonatal renal tumors. J Pediatr Surg 43:1587–1595PubMedCrossRefGoogle Scholar
  45. Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 76:493–504PubMedPubMedCentralCrossRefGoogle Scholar
  46. Kitagawa H, Pringle KC, Zuccolo J, Stone P, Nakada K, Kawaguchi F, Nakada M, Wakisaka M, Furuta S, Koike J, Seki Y (1999) The pathogenesis of dysplastic kidney in a urinary tract obstruction in the female fetal lamb. J Pediatr Surg 34:1678–1683PubMedCrossRefGoogle Scholar
  47. Kitajima K, Aoba T, Pringle KC, Seki Y, Zuccollo J, Koike J, Chikaraishi T, Kitagawa H (2010) Bladder development following bladder outlet obstruction in fetal lambs: optimal timing of fetal therapy. J Pediatr Surg 45:2423–2430PubMedCrossRefGoogle Scholar
  48. Krapp M, Geipel A, Germer U, Krokowski M, Gembruch U (2002) First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. Prenat Diagn 22:422–424PubMedCrossRefGoogle Scholar
  49. Liao AW, Sebire NJ, Geerts L, Cicero S, Nicolaides KH (2003) Megacystis at 10–14 weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet Gynecol 21:338–341PubMedCrossRefGoogle Scholar
  50. Linam LE, Yu X, Calvo-Garcia MA, Rubio EI, Crombleholme TM, Bove K, Kline-Fath BM (2010) Contribution of magnetic resonance imaging to prenatal differential diagnosis of renal tumors: report of two cases and review of the literature. Fetal Diagn Ther 28:100–108PubMedCrossRefGoogle Scholar
  51. Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C (2010) Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 21:1209–1217PubMedPubMedCentralCrossRefGoogle Scholar
  52. Magann EF, Doherty DA, Chauhan SP, Busch FW, Mecacci F, Morrison JC (2004) How well do the amniotic fluid index and single deepest pocket indices (below the 3rd and 5th and above the 95th and 97th percentiles) predict oligohydramnios and hydramnios? Am J Obstet Gynecol 190:164–169PubMedCrossRefGoogle Scholar
  53. Mallik M, Watson AR (2008) Antenatally detected urinary tract abnormalities: more detection but less action. Pediatr Nephrol 23:897–904PubMedCrossRefGoogle Scholar
  54. Mark K, Reis A, Zenker M (2006) Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. Prenat Diagn 26:262–266PubMedCrossRefGoogle Scholar
  55. Monnery-Noché ME, Auber F, Jouannic JM, Bénifla JL, Carbonne B, Dommergues M, Lenoir M, Lepointe HD, Larroquet M, Grapin C, Audry G, Hélardot PG (2008) Fetal and neonatal ovarian cysts: is surgery indicated? Prenat Diagn 28:15–20PubMedCrossRefGoogle Scholar
  56. Moon MH, Cho JY, Kim JH, Min JY, Yang JH, Kim MY (2010) In utero development of the fetal anal sphincter. Ultrasound Obstet Gynecol 35:556–559PubMedCrossRefGoogle Scholar
  57. Moretti ME, Caprara D, Drehuta I, Yeung E, Cheung S, Federico L, Koren G (2012) The fetal safety of angiotensin converting enzyme inhibitors and angiotensin II receptor blockers. Obstet Gynecol Int 2012:658310PubMedCrossRefGoogle Scholar
  58. Morris RK, Kilby MD (2011) Long-term renal and neurodevelopmental outcome in infants with LUTO, with and without fetal intervention. Early Hum Dev 87:607–610PubMedCrossRefGoogle Scholar
  59. Morris RK, Malin GL, Khan KS, Kilby MD (2009) Antenatal ultrasound to predict postnatal renal function in congenital lower urinary tract obstruction: systematic review of test accuracy. BJOG 116:1290–1299PubMedCrossRefGoogle Scholar
  60. Morris RK, Malin GL, Khan KS, Kilby MD (2010) Systematic review of the effectiveness of antenatal intervention for the treatment of congenital lower urinary tract obstruction. BJOG 117:382–390PubMedCrossRefPubMedCentralGoogle Scholar
  61. Morris RK, Quinlan-Jones E, Kilby MD, Khan KS (2007) Systematic review of accuracy of fetal urine analysis to predict poor postnatal renal function in cases of congenital urinary tract obstruction. Prenat Diagn 27:900–911PubMedCrossRefPubMedCentralGoogle Scholar
  62. Morris RK, Ruano R, Kilby MD (2011) Effectiveness of fetal cystoscopy as a diagnostic and therapeutic intervention for lower urinary tract obstruction: a systematic review. Ultrasound Obstet Gynecol 37:629–637PubMedCrossRefGoogle Scholar
  63. Muller F, Bernard MA, Benkirane A, Ngo S, Lortat-Jacob S, Oury JF, Dommergues M (1999) Fetal urine cystatin C as a predictor of postnatal renal function in bilateral uropathies. Clin Chem 45:2292–2293PubMedGoogle Scholar
  64. Muller F, Dommergues M, Bussières L, Lortat-Jacob S, Loirat C, Oury JF, Aigrain Y, Niaudet P, Aegerter P, Dumez Y (1996) Development of human renal function: reference intervals for 10 biochemical markers in fetal urine. Clin Chem 42:1855–1860PubMedGoogle Scholar
  65. Muller F, Dommergues M, Mandelbrot L, Aubry MC, Nihoul-Fekete C, Dumez Y (1993) Fetal urinary biochemistry predicts postnatal renal function in children with bilateral obstructive uropathies. Obstet Gynecol 82:813–820PubMedPubMedCentralGoogle Scholar
  66. Nicksa GA, Yu DC, Kalish BT, Klein JD, Turner CG, Zurakowski D, Barnewolt CE, Fauza DO, Buchmiller TL (2011) Serial amnioinfusions prevent fetal pulmonary hypoplasia in a large animal model of oligohydramnios. J Pediatr Surg 46:67–71PubMedCrossRefGoogle Scholar
  67. Nicolaides KH, Cheng HH, Snijders RJ, Moniz CF (1992) Fetal urine biochemistry in the assessment of obstructive uropathy. Am J Obstet Gynecol 166:932–937PubMedCrossRefGoogle Scholar
  68. Ochoa JH, Chiesa M, Vildoza RP, Wong AE, Sepulveda W (2012) Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population. Ultrasound Obstet Gynecol 39:521–527PubMedCrossRefGoogle Scholar
  69. Ono K, Kikuchi A, Takagi K, Takahashi D, Yoshizawa K, Nishizawa S (2009) Prenatal sonographic features of complete covered cloacal exstrophy. Ultrasound Obstet Gynecol 34:481–482PubMedCrossRefGoogle Scholar
  70. Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C (2010) Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol 203(5):364.e1–364.e5CrossRefGoogle Scholar
  71. Otukesh H, Sharifiaghdas F, Hoseini R, Fereshtehnejad SM, Rabiee N, Kiaiee MF, Javadi R, Mojtahedzadeh M, Simfroosh N, Basiri A, Hooman N, Nasiri J, Delshad S, Farhood P (2010) Long-term upper and lower urinary tract functions in children with posterior urethral valves. J Pediatr Urol 6:143–147PubMedCrossRefGoogle Scholar
  72. Overstreet K, Benirschke K, Scioscia A, Masliah E (2002) Congenital nephrosis of the Finnish type: overview of placental pathology and literature review. Pediatr Dev Pathol 5:179–183PubMedCrossRefGoogle Scholar
  73. Pajkrt E, Petersen OB, Chitty LS (2008) Fetal genital anomalies: an aid to diagnosis. Prenat Diagn 28:389–398PubMedCrossRefGoogle Scholar
  74. Pei Y (2011) Practical genetics for autosomal dominant polycystic kidney disease. Nephron Clin Pract 118:c19–c30PubMedCrossRefGoogle Scholar
  75. Pirson Y (2010) Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 17:173–180PubMedCrossRefPubMedCentralGoogle Scholar
  76. Putoux A, Mougou-Zerelli S, Thomas S, Elkhartoufi N, Audollent S, Le Merrer M, Lachmeijer A, Sigaudy S, Buenerd A, Fernandez C, Delezoide AL, Gubler MC, Salomon R, Saad A, Cordier MP, Vekemans M, Bouvier R, Attie-Bitach T (2010) BBS10 mutations are common in „Meckel“-type cystic kidneys. J Med Genet 47:848–852PubMedCrossRefGoogle Scholar
  77. Robyr R, Benachi A, Daikha-Dahmane F, Martinovich J, Dumez Y, Ville Y (2005) Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. Ultrasound Obstet Gynecol 25:478–482PubMedCrossRefGoogle Scholar
  78. Ruano R (2011) Fetal surgery for severe lower urinary tract obstruction. Prenat Diagn 31:667–674PubMedCrossRefGoogle Scholar
  79. Ruano R, Yoshisaki CT, Salustiano EM, Giron AM, Srougi M, Zugaib M (2011) Early fetal cystoscopy for first-trimester severe megacystis. Ultrasound Obstet Gynecol 37:696–701PubMedCrossRefGoogle Scholar
  80. Saleem SN, Zaki MS, Soliman NA, Momtaz M (2011) Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders. Neuropediatrics 42:35–38PubMedCrossRefGoogle Scholar
  81. Sarhan O, Zaccaria I, Macher MA, Muller F, Vuillard E, Delezoide AL, Sebag G, Oury JF, Aigrain Y, El-Ghoneimi A (2008) Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation. J Urol 179:307–312PubMedCrossRefGoogle Scholar
  82. Sattar S, Gleeson JG (2011) The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol 53:793–798PubMedPubMedCentralCrossRefGoogle Scholar
  83. Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H (2011) Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet 54:157–160PubMedCrossRefGoogle Scholar
  84. Schaefer IM, Männer J, Faber R, Loertzer H, Füzesi L, Seeliger S (2010) Giant umbilical cord edema caused by retrograde micturition through an open patent urachus. Pediatr Dev Pathol 13:404–407PubMedCrossRefGoogle Scholar
  85. Schreuder MF, Westland R, van Wijk JAE (2009) Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney. Nephrol Dial Transplant 24:1810–1818PubMedCrossRefGoogle Scholar
  86. Sepulveda W, Rompel SM, Cafici D, Carstens E, Dezerega V (2010) Megacystis associated with an umbilical cord cyst: a sonographic feature of a patent urachus in the first trimester. J Ultrasound Med 29:295–300PubMedCrossRefGoogle Scholar
  87. Smorgick N, Herman A, Wiener Y, Halperin R, Sherman D (2007) Prenatal thrombosis of the inferior vena cava and the renal veins. Prenat Diagn 27:603–607PubMedCrossRefGoogle Scholar
  88. Stathopoulos L, Merrot T, Chaumoître K, Bretelle F, Michel F, Alessandrini P (2010) Prenatal urinoma related to ureteropelvic junction obstruction: poor prognosis of the affected kidney. Urology 76:190–194PubMedCrossRefGoogle Scholar
  89. Sumi A, Sato Y, Kakui K, Tatsumi K, Fujiwara H, Konishi I (2011) Prenatal diagnosis of anterior sacral meningocele. Ultrasound Obstet Gynecol 37:493–496PubMedCrossRefGoogle Scholar
  90. Sun J, Wang F, Deng G, Mo J (2010) Does intervention in utero preserve the obstructed kidneys of fetal lambs? A radiological and pathological study. Fetal Diagn Ther 28:196–200PubMedCrossRefGoogle Scholar
  91. Taori K, Krishnan V, Sharbidre KG, Andhare A, Kulkarni BR, Bopche S, Patil V (2010) Prenatal sonographic diagnosis of fetal persistent urogenital sinus with congenital hydrocolpos. Ultrasound Obstet Gynecol 36:641–643PubMedCrossRefGoogle Scholar
  92. Tiblad E, Wilson RD, Carr M, Flake AW, Hedrick H, Johnson MP, Bebbington MW, Mann S, Adzick NS (2008) OEIS sequence – a rare congenital anomaly with prenatal evaluation and postnatal outcome in six cases. Prenat Diagn 28:141–147PubMedCrossRefGoogle Scholar
  93. Torres VE, Harris PC, Pirson Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369:1287–1301PubMedCrossRefGoogle Scholar
  94. van Gulick JJ, Gevers TJ, van Keimpema L, Drenth JP (2011) Hepatic and renal manifestations in autosomal dominant polycystic kidney disease: a dichotomy of two ends of a spectrum. Neth J Med 69:367–371PubMedGoogle Scholar
  95. Vlak MH, Algra A, Brandenburg R, Rinkel GJ (2011) Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis. Lancet Neurol 10:626–636PubMedCrossRefGoogle Scholar
  96. Vollersen E, Hof M, Gembruch U (1996) Prenatal sonographic diagnosis of fetal adrenal gland hemorrhage. Fetal Diagn Ther 11:286–291PubMedCrossRefGoogle Scholar
  97. Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS (2011) Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668–674PubMedPubMedCentralCrossRefGoogle Scholar
  98. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C (2005) EUROSCAN Study Group: Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. Eur J Med Genet 48:131–144PubMedCrossRefGoogle Scholar
  99. Yinon Y, Kingdom JC, Proctor LK, Kelly EN, Salle JL, Wherrett D, Keating S, Nevo O, Chitayat D (2010) Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia. Am J Med Genet A 152 A:75–83CrossRefGoogle Scholar
  100. Zaccara A, Giorlandino C, Mobili L, Brizzi C, Bilancioni E, Capolupo I, Capitanucci ML, Gennaro DEM (2005) Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more? J Urol 174:1657–1660PubMedCrossRefGoogle Scholar
  101. Zerres K, Hansmann M, Mallmann R, Gembruch U (1988) Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn 8:215–229PubMedCrossRefGoogle Scholar
  102. Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schöneborn S, Heikkilä P, Rapola J, Salonen R, Germino GG, Onuchic L, Somlo S, Avner ED, Harman LA, Stockwin JM, Guay-Woodford LM (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76:137–144PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Ulrich Gembruch
    • 1
  1. 1.Abt. für Geburtshilfe und Pränatale MedizinUniversitätsklinikum Bonn, Zentrum für Geburtshilfe und FrauenheilkundeBonnDeutschland

Personalised recommendations