Skip to main content
SpringerLink
Log in

Fehlbildungen: Diagnostik und Management

  • Chapter
Die Geburtshilfe

  • 305 Accesses

Zusammenfassung

Mit kongenitalen Defekten muss bei 3–5 % der Geburten gerechnet werden. Fehlbildungen stehen mit 3% an der Spitze, gefolgt von monogenen Erbleiden (1,4%) und chromosomalen Aberrationen (0,6%). Fehlbildungen sind heute in entwickelten Ländern für 20–25 % der perinatalenTodesfälle verantwortlich. Eine primäre Prävention kann nur in beschränktem Umfang erfolgen, da die Ätiologie bei den meisten Fehlbildungen unbekannt ist. Eine sekundäre Prävention im Sinne einer Therapie oder eines Schwangerschaftsabbruchs ist bei frühzeitigem Erkennen der Fehlbildungen möglich.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  • Achiron R, Glaser J, Gelernter I, Hegesh J, Yagel S (1992) Extended fetal echocardiografic examination for detecting cardiac malformations in low risk pregnancies. BMJ 304: 671–674

    Article  PubMed  CAS  Google Scholar 

  • Baccichetti C, Lenzini E, Suma V, Benini F, Marini A (1990) Spontaneous resolution of cystic hygroma in a 46 XX normal female. Prenat Diagn 10: 399–403

    Article  PubMed  CAS  Google Scholar 

  • Beinder E, Grüner C, Erhardt I, Mauch S, Begon S (1995) Die Exenzephalie-Anenzephalie-Sequenz. Ultraschall Med 16: 192–195

    Article  PubMed  CAS  Google Scholar 

  • Benachi A, Sonigo P, Jokanuic J-M, Simon I, Réviuon Y, Brunella F, Dumez Y (2001) Determination of the anatomical location of an antenatal intestinal occlusion by magnetic resonance imaging. Ultrasound Obstet Gynecol 18: 163–165

    Article  PubMed  CAS  Google Scholar 

  • Bernaschek G, Stuempflein I, Deutinger J (1996) The influence of the experience of the investigator on the rate of sonographic diagnosis of fetal malformations in Vienna. Prenat Diagn 16: 807–811

    Article  PubMed  CAS  Google Scholar 

  • Bevis DC (1952) The antenatal prediction of haemolytic disease of the newborn. Lancet 1: 395–398

    Article  PubMed  CAS  Google Scholar 

  • Blas HG, Eik-Nes SH, Kiserud T, Hellervik LR (1995) Early development of the abdominal wall, stomach and heart from 7 to 12 weeks gestation: a longitudinal study. Ultrasound Obstet Gynecol 6: 240–248

    Article  Google Scholar 

  • CEMAT: The Canadian Early and Mid-Trimester Amniocentesis Trial Group (1998) Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet 351: 242–247

    Article  Google Scholar 

  • Chervenak FA, McCollough LB, Campbell S (1995) Is third trimester abortion justified?. Br J Obstet Gynaecol 102: 434–435

    Article  PubMed  CAS  Google Scholar 

  • Crombach G, von Eckardstein S, Reihs T, Röhrborn G (1995) Stellenwert der invasiven Pränataldiagnostik im ersten Trimenon im Vergleich zur Standardamniozentese. Gynäkologe 28: 302–314

    PubMed  CAS  Google Scholar 

  • Daffos F, Capella-Pavlovsky M, Forestier F (1983) Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Prenat Diagn 3: 271–277

    Article  PubMed  CAS  Google Scholar 

  • D’Alton ME (1994) Prenatal diagnostic procedures. Semin Perinatol 18: 140–162

    PubMed  Google Scholar 

  • Donald I, McVicar JM, Bronin TG (1958) Investigation of abdominal masses by pulsed ultrasound. Lancet 1: 1185–1195

    Google Scholar 

  • European Association of Perinatal Medicine (1993) Recommendations and protocols for prenatal diagnosis. Report of the European Study Group on Prenatal Diagnosis

    Google Scholar 

  • Evans Ml, Pryde PG, Evans WJ, Johnson MP (1993) The choice women make about prenatal diagnosis. Fetal Diagn Ther 8 [Suppl 1 ]: 70–80

    Article  PubMed  Google Scholar 

  • Evans Ml, Goldberg JD, Dommergues M et al. (1994) Efficacy of second-trimester termination for fetal anomalies: International collaborative experience among the world’s largest centers. Am J Obstet Gynecol 171: 90–94

    PubMed  CAS  Google Scholar 

  • Ferenz C, Rubin JD, Loffredo CA, Magee AC (1993) Epidemiology of congenital heart disease: the Baltimoore-Washington-lnfant-Study 1981-1989. Futura, Mount Kisko

    Google Scholar 

  • Fleischer AC, Mannig FA, Jeenty PU, Romero R (2001) Sonography in obstetics and gynecology. McGraw-Hill, New York

    Google Scholar 

  • Fuchs F, Riis P (1956) Antenatal sex determination. Nature 177: 330

    Article  PubMed  CAS  Google Scholar 

  • Garmel SH, D’Alton ME (1994) Diagnostic ultrasound in pregnancy: an overview. Semin Perinatol 18: 117–132

    PubMed  CAS  Google Scholar 

  • Gembruch U, Knöpfle G, Bald R, Hansmann M (1993) Early diagnosis of fetal congenital heart disease by transvaginal echocardiography. Ultrasound Obstet Gynecol 3: 310–217

    Article  PubMed  CAS  Google Scholar 

  • Gemeinsame Empfehlung der Deutschen Gesellschaft für Ernährung, Gynäkologie und Geburtshilfe, Humangenetik, Kinderheilkunde und Neuropädiatrie (1995) Prävention von Neuralrohrdefekten durch Folsäurezufuhr in der Frühschwangerschaft. Gynäkol Geburtshilfl Rundsch 35: 2–5

    Article  Google Scholar 

  • Giorlandino C, Mobili L, Bilancioni E, D’Alessio P, Carcioppolo O, Gentili P, Vizzone A (1994) Transplacental amniocentesis: is it really a higher-risk procedure?. Prenat Diagn 14: 803–806

    Article  PubMed  CAS  Google Scholar 

  • Grandjean H, Larroque D, Levi S, and the Eurofetus Study Group (1999) The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol 181: 446–454

    Article  PubMed  CAS  Google Scholar 

  • Gross SJ, Shuman LP, Tolley EA, Emerson DS, Felker RE, Simpson JL, Elias S (1995) Isolated fetal chorioid plexus cysts and trisomy 18: a review and metaanalysis. Am J Obstet Gynecol 172: 83–87

    Article  PubMed  CAS  Google Scholar 

  • Hahnemann N, Mohr J (1968) Antenatal foetal diagnosis in genetic disease. Bull Eur Soc Hum Genet 3: 47–54

    Google Scholar 

  • Hansmann M, Hackelöer BJ, Staudach A (1985) Ultraschalldiagnostik in Geburtshilfe und Gynäkologie. Springer, Berlin Heidelberg New York Tokyo

    Book  Google Scholar 

  • Heckerling PS, Verp MS, Hadro TA (1994) Preference of pregnant women for amniocentesis or chorionic villus sampling for prenatal testing: comparison of patients’choice and those of a decision-analytic model. J Clin Epidemiol 47: 1215–1228

    Article  PubMed  CAS  Google Scholar 

  • Holzgreve W, Tercanli S, Miny P (1996) Effizienzbewertung der Pränataldiagnostikmethoden und deren Patientenselektionskriterien. Gynäkologe 29: 565–572

    Google Scholar 

  • Hubbard AM, Harty PM (2000) MRI for the assessment of the malformed fetes. Baillière’s clinical Obstet and Gynaecol 14: 629–650

    CAS  Google Scholar 

  • Jacobson CB, Barter RH (1967) Intrauterine diagnosis and management of genetic defects. Am J Obstet Gynecol 99: 796–807

    PubMed  CAS  Google Scholar 

  • Kirk JS, Riggs TW, Comstock CH, Lee W, Yang SS, Weinhouse E (1994) Prenatal screening for cardiac anomalies: the value of routine addition of the aortic root to the four-chamber view. Obstet Gynecol 84: 427–31

    PubMed  CAS  Google Scholar 

  • Laudry JAM, Gaillard JLJ, v.d.Anker JN, Tibboel D, Wladimiroff JW (1996) Doppler ultrasound imaging: a new technique to detect lung hypoplasia before birth ?. Ultrasound Obstet Gynecol 7: 189–192

    Article  Google Scholar 

  • Levi S, Schaaps JP, De Havay P, Coulon R, Defoort P (1995) End-result of routine ultrasound screening for congenital anomalies: the Belgian multicentric study 1984–1992. Ultrasound Obstet Gynecol 5: 366–371

    Article  PubMed  CAS  Google Scholar 

  • Ludomirsky A (1993) Intrauterine fetal blood sampling — a multicenter registry: evaluation of 7462 procedures. Am J Obstet Gynecol 168:318 (Abstr)

    Google Scholar 

  • Luthy DA, Wardinsky T, Shurtleff DB, Hollenbach KA, Hickock DE, Nyberg DA, Benedetti TJ (1991) Cesarean section before the onset of labor and subsequent motor function in infants with meningomyelocele diagnosed antenatally. N Engl J Med 324: 662–666

    Article  PubMed  CAS  Google Scholar 

  • MacLachlan NA (1992) Amniocentesis. In: Brock DJH, Rodeck CH, Ferguson-Smith MA (eds) Prenatal diagnosis and screening. Churchill Livingstone, pp 13–24

    Google Scholar 

  • McMahon M, Kuller JA, Chescheir NC (1996) Prenatal ultrasonographic findings associated with short bowel snydrome in two fetuses with gastroschisis. Obstet Gynecol 88: 676–678

    Article  PubMed  CAS  Google Scholar 

  • Meinel K (1995) Skelett-und Muskelsystem. In: Sohn C, Holzgreve W (Hrsg) Ultraschall in Gynäkologie und Geburtshilfe. Thieme, Stuttgart, S 329–343

    Google Scholar 

  • Morin LM, Crombleholme TM, D’Alton ME (1994) Prenatal diagnosis and management of fetal thoracic lesions. Semin Perinatol 18: 228–253

    PubMed  CAS  Google Scholar 

  • NICD National Registry for Amniocentesis Study Group (1976) Midtrimester amniocentesis for prenatal diagnosis; safety and accuracy. JAMA 236: 1471–1476

    Article  Google Scholar 

  • Nicolaides K, de Lourdes Brizot M, Patel F, Snijders R (1994) Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10—13 weeks’gestation. Lancet 344: 435–439

    Article  PubMed  CAS  Google Scholar 

  • Nyberg DA, Mahony BS, Pretorius DH (1990) Diagnostic ultrasound of fetal anomalies. Mosby Year Book, St. Louis

    Google Scholar 

  • Oakley GP (1986) Frequency of human malformations. Clin Perinatol 13: 545–554

    PubMed  Google Scholar 

  • Osathanond V, Potter EL (1964) Pathogenesis of polycystic kidneys. Arch Pathol 77: 459–509

    Google Scholar 

  • Paidas MJ, Crombleholme TM, Robertson FM (1994) Prenatal diagnosis and management of the fetus with an abdominal wall defect. Semin Perinatol 18: 196–214

    PubMed  CAS  Google Scholar 

  • Pilu G (1993) Borderline fetal cerebral ventriculomegaly — a twilight zone. Ultrasound Obstet Gynecol 3: 85–87

    Article  PubMed  CAS  Google Scholar 

  • Reece EA (1997) Early and midtrimester genetic amniocentesis. Obstet Gynecol Clin North Am 24: 71–81

    Article  PubMed  CAS  Google Scholar 

  • Reece EA, Hobbins JC (1991) Embryoscopy: an evolving technology for early prenatal diagnosis. In: Chapman M, Grudzinskas G, Chard T (eds) The embryo: normal and abnormal development and growth. Springer, Berlin Heidelberg New York Tokyo, pp 123–140

    Google Scholar 

  • Robertson FM, Crombleholme TM, Paidas M, Harris BH (1994) Prenatal diagnosis and management of gastrointestinal anomalies. Semin Perinatol 18: 182–195

    PubMed  CAS  Google Scholar 

  • Romero R, Pilu G, Jeanty P, Ghidini A, Hobbins JC (1988) Prenatal diagnosis of congenital anomalies. Appleton & Lange, Stamford/CT

    Google Scholar 

  • Rott HD (1975) Incidence and etiology of omphaloceles. Z Kinderheilk 119: 133–141

    Article  PubMed  CAS  Google Scholar 

  • Shaw GM, Lammer EJ, Wassermann CR, O’Malley CD, Tolarova MM (1995) Risks of orofacial clefts in children born to women using multivitamins containing folic acis periconceptionally. Lancet 345: 393–396

    Article  Google Scholar 

  • Snijders RJM, Nicolaides KH (1996) Ultrasound markers for fetal chromosomal defects. Parthenon, Carnforth, pp 7–62

    Google Scholar 

  • Sohn C, Holzgreve W (1995) Ultraschall in Gynäkologie und Geburtshilfe. Thieme, Stuttgart

    Google Scholar 

  • Steele MW, Greg WR (1966) Chromosome analysis of human amniotic fluid cells. Lancet 1: 383–385

    Article  PubMed  CAS  Google Scholar 

  • Stoll C, Dott B, Alembik Y, Roth MP (1995) Evaluation of routine prenatal diagnosis by a registry of congenital anomalies. Prenat Diagn 15: 791–800

    Article  PubMed  CAS  Google Scholar 

  • Tabor A, Madsen M, Obel EB, Philip J, Bang J, Norgaard-Petersen B (1986). Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1: 1287–1293

    Article  PubMed  CAS  Google Scholar 

  • Tegnander E, Eik-Nes SH, Johansen OJ, Linker DT (1995) Prenatal detection of heart defects at the routine fetal examination at 18 weeks in a non-selected population. Ultrasound Obstet Gynecol 5: 372–380

    Article  PubMed  CAS  Google Scholar 

  • Terinde R, Grab D (1995) Diagnostisch-therapeutisches Konzept bei Fehlbildungen der Bauchdecke und des Zwerchfells. Gynäkologe 28: 368–383

    PubMed  CAS  Google Scholar 

  • Torfs C, Curry C, Roeper P (1990) Gastroschisis. J Pediatr 116: 1–6

    Article  PubMed  CAS  Google Scholar 

  • Tutschek B, Rhodeck CH (1995) Diagnostisch-therapeutisches Konzept bei Fehlbildungen der Niere und der ableitenden Harnwege. Gynäkologe 28: 356–367

    PubMed  CAS  Google Scholar 

  • Van den Hof MC, Nicolaides KH, Campbell J, Campbell S (1990) Evaluation of the lemon and banan signs in one hundred thirty fetuses with open spina bifida. Am J Obstet Gynaecol 162: 322–327

    Google Scholar 

  • Voigt HJ (1995) Diagnostisch-therapeutisches Konzept beim Hydrozephalus. Gynäkologe 28: 346–355

    PubMed  CAS  Google Scholar 

Download references

Authors
  1. P. Dürig
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Ehem. Direktor der Universitätsfrauenklinik am Inselspital Bern, Ahornweg 4, 3122, Kehrsatz, Schweiz

    Henning Schneider

  2. Abteilung für Geburtshilfe und Gynäkologie, Universitätsklinik für Frauenheilkunde, Währinger Gürtel 18-20, 1090, Wien, österreich

    Peter Husslein

  3. Abteilung für Perinatalmedizin Frauenklinik und Poliklinik des Klinikums rechts der Isar, Universität der Technischen Universität München, Ismaninger Straße 22, 81675, München

    Karl-Theo M. Schneider

Rights and permissions

Reprints and permissions

Copyright information

© 2004 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Dürig, P. (2004). Fehlbildungen: Diagnostik und Management. In: Schneider, H., Husslein, P., Schneider, KT.M. (eds) Die Geburtshilfe. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18574-8_10

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-18574-8_10

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-30522-4

  • Online ISBN: 978-3-642-18574-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation