Die Urologie pp 1809-1825 | Cite as
Pränatale Diagnostik in der Urologie
Zusammenfassung
Die pränatale Untersuchung des fetalen Urogenitaltraktes umfasst die Beurteilung der Fruchtwassermenge, der beiden Nieren, der Harnblase und des Geschlechts. Im Verlauf der Schwangerschaft sind drei sonographische Screening-Untersuchungen vorgesehen. Durch die Mutterschaftsrichtlinien und DEGUM-Leitlinien sind detaillierte Vorgaben zur sonographischen Beurteilung des Feten festgelegt worden, um fetale Auffälligkeiten frühzeitig erkennen und ggf. weiterführende diagnostische und therapeutische Maßnahmen einleiten zu können. Vor Durchführung des Ultraschallscreenings ist es wichtig, die Schwangere ärztlicherseits gemäß den Vorgaben der Mutterschaftsrichtlinien und des Gendiagnostikgesetzes über Ziele, Inhalt und Grenzen sowie über mögliche Folgen der Untersuchung aufzuklären. Im zweiten Ultraschallscreening hat die Schwangere die Möglichkeit, zwischen einer Sonographie mit Biometrie ohne systematische Untersuchung der fetalen Morphologie und einer Sonographie mit Biometrie und systematischer Untersuchung der fetalen Morphologie durch einen besonders qualifizierten Untersucher zu wählen. Für die Beurteilung des fetalen Urogenitalsystems ist nur die Darstellung der fetalen Harnblase explizit gefordert. Ergeben sich bei den sonographischen Vorsorgeuntersuchungen auffällige Befunde, so erfolgt gemäß den Empfehlungen des Mehrstufenkonzeptes der DEGUM eine weitere detaillierte Abklärung durch einen spezialisierten Pränatalmediziner. Die Kenntnis über den Nachweis einer Auffälligkeit im fetalen Urogenitaltrakt ermöglicht zum einen die weitere pränatale Abklärung von chromosomalen Risiken, die Einschätzung der kindlichen Prognose und die perinatalogische Planung der Geburt in einem dafür vorgesehenen spezialisierten Perinatalzentrum möglichst der Stufe I, zum anderen die frühzeitige postnatale Einleitung von präventiven und therapeutischen Maßnahmen und Untersuchungen bis hin zu einer rechtzeitigen chirurgischen Intervention mit dem Ziel, die Nieren- und Harnblasenfunktion aufrechtzuerhalten.
Literatur
- Al Naimi A, Baumüller JE, Spahn S, Bahlmann F (2013) Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. Prenat Diagn 33:726–731CrossRefPubMedGoogle Scholar
- Aoba T, Kitagawa H, Pringle KC, Koike J, Nagae H, Zuccollo J, Shimada J, Seki Y (2008) Can a pressure-limited vesico-amniotic shunt tube preserve normal bladder function? J Pediatr Surg 43:2250–2255CrossRefPubMedGoogle Scholar
- Austin P, Homsy Y, Gearhart J, Porter K, Guidi C, Madsen K, Maizels M (1998) The prenatal diagnosis of cloacal extrophy. J Urol 160:1179–1181CrossRefPubMedGoogle Scholar
- Bergmann C, Senderek J, Schneider F, Dornia C, Kupper F, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Moser M, Buttner R, Zerres K (2004) PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 23:487–495CrossRefPubMedGoogle Scholar
- Biard J, Johnson M, Carr M, Wilson R, Hedrick H, Pavlock C, Adzick NS (2005) Long-term outcomes on children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. Obstet Gynecol 106:503–508CrossRefPubMedGoogle Scholar
- Bornes M, Spaggiari E, Schmitz T, Dreux S, Czerkiewicz I, Delezoide AL, El-Ghoneimi A, Oury JF, Muller F (2013) Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis. Prenat Diagn 33:1162–1166CrossRefPubMedGoogle Scholar
- Bronshtein M, Bar-Hava I, Blumenfeld Z (1993) Differential diagnosis of the nonvisualized fetal urinary bladder by transvaginal sonography in the early second trimester. Obstet Gynecol 82:490–493PubMedGoogle Scholar
- Chitty LS, Altman DG (2003) Charts of fetal size: Kidney and renal pelvis measurements. Prenat Diagn 23:891–897CrossRefPubMedGoogle Scholar
- Christianson C, Huff D, Mc Pherson E (1999) Limb deformations in oligohydramnios sequence: Effects of gestational age and duration of oligohydramnios. Am J Med Genet 86:430–433CrossRefPubMedGoogle Scholar
- Chudleigh T (2001) Mild pyelectasis. Prenat Diagn 21:936–941CrossRefPubMedGoogle Scholar
- 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 metaanalysis. Obstet Gynecol 102:367–382PubMedGoogle Scholar
- Coelho GM, Bouzada MC, Pereira AK, Figueiredo BF, Leite MR, Oliveira DS, Oliveira EA (2007) Outcome of isolated antenatal hydronephrosis: A prospective cohort study. Pediatr Nephrol 22:1727–1734CrossRefPubMedGoogle Scholar
- Coplen D (1997) Prenatal intervention for hydronephrosis. J Urol 157:2270–2277CrossRefPubMedGoogle Scholar
- Coplen D, Hare J, Zderic S, Canning D, Snyder H, Duckett J (1996) 10-year experience with prenatal intervention for hydronephrosis. J Urol 156:1142–1145CrossRefPubMedGoogle Scholar
- Corteville JE, Gray DL, Crane JP (1991) Congenital hydronephrosis: correlation of fetal ultrasonographic findings with infant outcome. Am J Obstet Gynecol 165:384–388CrossRefPubMedGoogle Scholar
- Crombleholme TM, Harrison MR, Langer JC, Longaker MT, Anderson RL, Slotnick NS, Filly RA, Callen PW, Goldstein RB, Golbus MS (1988) Early experience with open fetal surgery for congenital hydronephrosis. J Pediatr Surg 23:1114–1121CrossRefPubMedGoogle Scholar
- Damen-Ellias HAM, Stigter RH, De Jong TPVM, Visser GHA (2004) Variability in dilatation of the fetal renal pelvis during a bladder filling cycle. Ultrasound Obstet Gynecol 24:750–755CrossRefGoogle Scholar
- Dommergues M (2009) Kidney and urinary tract disorders, Chapter 35. In: Rodeck CH, Whittle MJ (Hrsg) Fetal Medicine. Churchill Livingstone Elsevier, London, S 459–477Google Scholar
- Elder JS (1992) Commentary: Importance of antenatal diagnosis of vesicoureteral reflux. J Urol 148:1750–1754PubMedGoogle Scholar
- Elder JS, Duckett JW, Snyder HM (1987) Intervention for foetal obstructive uropathy: Has it been effective? Lancet 2:1007–1010CrossRefPubMedGoogle Scholar
- Estrada CR (2008) Prenatal hydronephrosis: Early evaluation. Curr Opin Urol 18:401–403CrossRefPubMedGoogle Scholar
- Fägerquist M, Fägerquist U, Oden A, Blomberg SG (2001) Fetal urine production and accuracy when estimating fetal urinary bladder volume. Ultrasound Obstet Gynecol 17:132–139CrossRefPubMedGoogle Scholar
- Favre R, Kohler M, Gasser B, Muller F, Nisand I (1999) Early fetal megazystis between 11 and 15 weeks of gestation. Ultrasound Obstet Gynecol 14:402–406CrossRefPubMedGoogle Scholar
- Feldman DM, DeCambre M, Kong E, Borgida A, Jamil M, Mc Kenna P, Egan J (2001) Evaluation and follow-up of fetal hydronephrosis. J Ultrasound Med 20:1065–1069PubMedGoogle Scholar
- Fernbach SK, Maizels M, Conway JJ (1993) Ultrasound grading of hydronephrosis: Introduction to the system used by the Society of fetal Urology. Pediatr Radiol 23:478–480CrossRefPubMedGoogle Scholar
- Freedman AL, Bukowski TP, Smith CA, Evans MI, Johnson MP, Gonzales R (1996) Fetal therapy for obstructive uropathy: Diagnosis specific outcome. J Urol 159:720–723Google Scholar
- Freedman AL, Johnson MP, Smith CA, Gonzalez R, Evans MI (1999) Long-term outcome in children after antenatal intervention for obstructive uropathy. Lancet 354:374–377CrossRefPubMedGoogle Scholar
- Freedman AL, Johnson M, Gonzales R (2000) Fetal therapy for obstructive uropathy: Past, present, future? Pediatr Nephrol 14:167–176CrossRefPubMedGoogle Scholar
- Gearhart JP, Ben-Chaim J, Jeffs RD, Sanders RC (1995) Criteria for the prenatal diagnosis of classic bladder exstrophy. Obstet Gynecol 85:961–964CrossRefPubMedGoogle Scholar
- Glick PL, Harrison MR, Noall RA, Villa RL (1983) Correction of congenital hydronephrosis in utero. III. Early mid-trimester ureteral obstruction produces renal dysplasia. J Pediatr Surg 18:681–687CrossRefPubMedGoogle Scholar
- 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 19:649–657CrossRefPubMedGoogle Scholar
- Goldstein I, Shalev E, Nisman D (2001) The dilemma of prenatal diagnosis of bladder exstrophy: A case report and a review of the literature. Ultrasound Obstet Gynecol 17:357–359CrossRefPubMedGoogle Scholar
- Harrison MR, Golbus MS, Filly RA, Callen PW, Katz M, de Lorimier AA (1982a) Fetal surgery for congenital hydronephrosis. N Engl J Med 306:591–593CrossRefPubMedGoogle Scholar
- Harrison MR, Nakayama DK, Noall R, De Lorimer R (1982b) Correction of congenital hydronephrosis in utero. II. Decompression reserves the effects of obstruction on the fetal lung and urinary tract. J Pediatr Surg 17:965–974CrossRefPubMedGoogle Scholar
- Holmes N, Harrison MR, Baskin LS (2001) Fetal surgery for posterior urethral valves: Long-term postnatal outcome. Pediatrics 108:E7CrossRefPubMedGoogle Scholar
- Ismaili K, Hall M, Donner C, Thomas D, Vermeylen D, Avni FE (2003) Brussels free university perinatal nephrology study group. Results of systematic screening for minor degrees of fetal renal pelvis dilatation in an unselected population. Am J Obstet Gynecol 188:242–246CrossRefPubMedGoogle Scholar
- Ismaili K, Avni FE, Wissing KM, Hall M (2004) Long-term clinical outcome of infants with mild and moderate fetal pyelectasis: Validation of neonatal ultrasound as a screening tool to detect significant nephrouropathies. J Pediatr 144:759–765PubMedGoogle Scholar
- Ismaili K, Hall M, Piepsz A, Alexander M, Schulman C, Avni FE (2005) Insights into the pathogenesis and natural history of fetuses with renal pelvis dilatation. Eur Urol 48:207–214CrossRefPubMedGoogle Scholar
- Johnson MP, Corsi P, Bradfield W, Hume RF, Smith C, Flake AW, Qureshi F, Evans MI (1995) Sequential urinalysis improves evaluation of fetal renal function in obstructive uropathy. Am J Obstet Gynecol 173:59–65CrossRefPubMedGoogle Scholar
- Kaefer M, Peters CA, Retik AB, Benacerraf B (1997) Increased renal echogenicity: A sonographic sign for differentiating between obstructive and nonobstructive etiologies of in utero bladder distension. J Urol 158:1026–1029CrossRefPubMedGoogle Scholar
- Kitagawa H, Pringle KC, Koike J, Zuccollo J, Yasuji S, Wakisaka M, Sato Y, Sato H, Nagae H, Nakada K (2006) Vesicoamniotic shunt for complete urinary tract obstruction is partially effective. J Pediatr Surg 41:394–402CrossRefPubMedGoogle Scholar
- Krzemien G, Roszkowska-Blaim M, Kostro I, Wojnar J, Karpinska M, Sekowska R (2006) Urological anomalies in children with renal agenesis or multicystic dysplastic kidney. J Appl Genet 47:171–176CrossRefPubMedGoogle Scholar
- Lee RS, Cendron M, Kinnamon DD, Nguyen HT (2006) Antenatal hydronephrosis as a predictor of postnatal outcome: A metaanalysis. Pediatrics 118:586–593CrossRefPubMedGoogle Scholar
- 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 21:338–341CrossRefPubMedGoogle Scholar
- Linder M, Fittschen M, Seidmann L, Bahlmann F (2012) Intrauterine death of a child with Goldenhar syndrome: A case presentation and review of the literature. Arch Gynecol Obstet 286(3):809–810CrossRefPubMedGoogle Scholar
- Mandell J, Blyth BR, Peters CA, Retik AB, Estroff JA, Benacerraf BR (1991) Structural genitourinary defects detected in utero. Radiology 178:193–196CrossRefPubMedGoogle Scholar
- Manning FA, Harrison MR, Rodeck C (1986) Catheter shunts for fetal hydronephrosis and hydrocephalus. Report of the International Fetal Surgery Registry. N Engl J Med 315:336–340CrossRefPubMedGoogle Scholar
- Marra G, Barbieri G, Moioli C, Assael BM, Grumieri G, Caccamo ML (1994) Mild fetal hydronephrosis indicating vesicoureteric reflux. Arch Dis Child 70:F147–F150CrossRefGoogle Scholar
- Mc Hugo J, Whittle M (2001) Enlarged fetal bladders: Aetiology, management and outcome. Prenat Diagn 21:958–963CrossRefGoogle Scholar
- Merz E, Eichhorn K, Hansmann M, Meinel K (2002) Qualitätsanforderungen an die weiterführende differenzialdiagnostische Ultraschalluntersuchung in der pränatalen Diagnostik (=DEGUM Stufe II) im Zeitraum 18.-22. Schwangerschaftswoche. Ultraschall Med 23:11–12CrossRefPubMedGoogle Scholar
- Moerman P, Fryus LP, Godderis P, Laweryus J (1984) Pathogenesis of the prune belly syndrome: A functional urethral obstruction causes by prostatic hypoplasia. Pediatrics 73:470–475PubMedGoogle Scholar
- Morris RK, Kilby MD (2009) An overview of the literature on congenital lower urinary tract obstruction and introduction to the PLUTO trial: Percutaneous shunting in lower urinary tract obstruction. Aust N Z J Obstet Gynecol 49:6–10CrossRefGoogle Scholar
- Morris RK, Khan KS, Kilby MD (2007a) Vesicoamniotic shunting for fetal lower urinary tract obstruction: an overview. Arch Dis Child Fetal Neonatal Ed 92:F166–F168CrossRefPubMedPubMedCentralGoogle Scholar
- Morris RK, Quinlan-Jones E, Kilby MD, Khan KS (2007b) Systematic review of accuracy of fetal urine analysis to predict poor postnatal renal function in cases of congenital urinary tract obstruction. Prenat Diagn 27:900–911CrossRefPubMedGoogle Scholar
- Morris RK, Malin GL, Quinlan-Jones E, Middleton LJ, Hemming K, Burke D, Daniels JP, Khan KS, Deeks J, Kilby MD (2013) Percutaneous vesicoamniotic shunting versus conservative management for fetal lower urinary tract obstruction (PLUTO): A randomised trial. Lancet 382:14961506CrossRefGoogle Scholar
- Mouriquand P, Whitten M, Pracos JP (2001) Pathophysiology, diagnosis and management of prenatal upper tract dilatation. Prenat Diagn 21:942–951CrossRefPubMedGoogle Scholar
- 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 82:813–820PubMedGoogle Scholar
- Muller F, Dommergues M, Bussieres 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
- Muller F, Dreux S, Vaast P, Dumez Y, Nisand I, Ville Y, Boulot P, Guibourdenche J (2005) Prenatal diagnosis of megacystis-mircrocolon-intestinal-hypoperistalis syndrome: Contribution of amniotic fluid digestive enzyme assay and fetal urinalysis. Prenat Diagn 25:203–209CrossRefPubMedGoogle Scholar
- Nicolaides KH (2003) Screening for chromosomal defects. Ultrasound Obstet Gynecol 21:313–321CrossRefPubMedGoogle Scholar
- Nicolini U (2001) Invasive assessment of fetal renal abnormalities: Urinalysis, fetal blood sampling and biopsy. Prenat Diagn 21:964–969CrossRefPubMedGoogle Scholar
- Odibo AO, Marchiano D, Quinones JN, Riesch D, Egan JFX, Macones GA (2003) Mild pyelectasis: Evaluating the relationship between gestational age and renal pelvic anterior-posterior diameter. Prenat Diagn 23:824–827CrossRefPubMedGoogle Scholar
- Orzechowski KM, Berghella V (2013) Isolated fetal pyelectasis and the risk of Down syndrome: A meta-analysis. Ultrasound Obstet Gynecol 42:615–621CrossRefPubMedGoogle Scholar
- Ouzounian JG, Castro MA, Fresquez M, Al-Sulyman OM, Kovacs BW (1996) Prognostic significance of antenatally detected fetal pyelectasis. Ultrasound Obstet Gynecol 7:424–428CrossRefPubMedGoogle Scholar
- Parker RW (1895) Absence of abdominal muscles in an infant. Lancet i:1252–1254Google Scholar
- Pates LA, Dashe JS (2006) Prenatal diagnosis and management of hydronephrosis. Early Hum Dev 82:3–8CrossRefPubMedGoogle Scholar
- Persutte WH, Hussey M, Chyu J, Hobbins JC (2000) Striking findings concerning the variability in the measurement of the fetal renal collecting system. Ultrasound Obstet Gynecol 15:186–190CrossRefPubMedGoogle Scholar
- Quintero RA, Shukla AR, Homsy YL, Bukkapatnam R (2000) Successful in utero endoscopic ablation of posterior urethral valves: A new dimension in fetal urology. Urology 55:774CrossRefPubMedGoogle Scholar
- Richtlinien des Gemeinsamen Bundesausschusses über die ärztliche Betreuung während der Schwangerschaft und nach der Entbindung („Mutterschaftsrichtlinien“) in der Fassung vom 10.12.1985 (veröffentlicht im Bundesanzeiger Nr. 60a vom 27.03.1986), zuletzt geändert am 24.04.2014 (veröffentlicht im Bundesanzeiger AT 27.06.2014 B3) in Kraft getreten am 28. Juni 2014. (Muhttps://www.g-ba.de/downloads/62-492-883/Mu-RL_2014-04-24.pdf). Zugegriffen im 2013
- Robinson JN, Tice K, Kolm P, Abuhamad AZ (1998) Effect of maternal hydration on fetal renal pyelectasis. Obstet Gynecol 92:137–141CrossRefPubMedGoogle Scholar
- 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 25:478–482CrossRefPubMedGoogle Scholar
- Ruano R, Duarte S, Bunduki V, Giron A, Srougi M, Zugaib M (2010) Fetal cystoscopy for severe lower urinary tract obstruction – Initial experience of a single center. Prenat Diagn 30:30–39PubMedGoogle Scholar
- Sairam S, Al-Habib A, Sasson S, Thilaganathan B (2001) Natural history of fetal hydronephrosis diagnosed on mid-trimester ultrasound. Ultrasound Obstet Gynecol 17:191–196CrossRefPubMedGoogle Scholar
- Sebire NJ, von Kaienberg C, Rubio C, Nicolaides KH (1996) Fetal megacystis at 10–14 weeks of gestation. Ultrasound Obstet Gynecol 8:387–390CrossRefPubMedGoogle Scholar
- Sherer DM (2000) Is fetal hydronephrosis overdiagnosed? Ultrasound Obstet Gynecol 16:601–606CrossRefPubMedGoogle Scholar
- Sidhu G, Beyene J, Rosenblum N (2006) Outcome of isolated antenataal hydronephrosis: A systematic review and meta-analysis. Pediatr Nephrol 21:218–224CrossRefPubMedGoogle Scholar
- Signorelli M, Cerri V, Taddei F, Groli C, Bianchi UA (2005) Prenatal diagnosis and management of mild fetal pyelectasis: Implications for neonatal outcome and follow-up. Eur J Obstet Gynecol Reprod Biol 118:154–159CrossRefPubMedGoogle Scholar
- Vanderheyden T, Kumar S, Fisk NM (2003) Fetal renal impairment. Semin Neonatol 8:279–289CrossRefPubMedGoogle Scholar
- Welsh A, Agarwal S, Kumar S, Smith RP, Fisk NM (2003) Fetal cystoscopy in the management of fetal obstructive uropathy: Experience in a single European centre. Prenat Diag 23:1033–1041CrossRefGoogle Scholar
- Wickstrom EA, Thangavelu M, Parilla BV, Tamura RK, Sabbagha RE (1996) A prospective study of the association between isolated fetal pyelectasis and chromosomal abnormality. Obstet Gynecol 88:379–382CrossRefPubMedGoogle Scholar
- Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C (2005) Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: An analysis of 709,030 births in 12 European countries. Eur J Med Genet 48:131–144CrossRefPubMedGoogle Scholar
- Wilcox DT, Chitty LS (2001) Non-visualisations of the fetal bladder: Aetiology and management. Prenat Diagn 21:977–983CrossRefPubMedGoogle Scholar
- Winyard P, Chitty LS (2008) Dysplastic kidneys. Semin Fetal Neonatal Med 13:142–151CrossRefPubMedGoogle Scholar
- Woodward M, Frank D (2002) Postnatal management of antenatal hydronephrosis. BJU Int 89:149–156CrossRefPubMedGoogle Scholar
- Yiee J, Wilcox D (2008a) Abnormalities of the fetal bladder. Semin Fetal Neonatal Med 13:164–170CrossRefPubMedGoogle Scholar
- Yiee J, Wilcox D (2008b) Management of fetal hydronephrosis. Pediatr Nephrol 23:347–353CrossRefPubMedGoogle Scholar
- Zeres K, Mucher G, Becker J, Steinkamm C et al (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76:137–144CrossRefGoogle Scholar