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Skelettsystem

  • Thomas Schramm
Chapter

Zusammenfassung

Die Strukturen des Skelettsystems werden sonografisch sichtbar, sobald die Kalzifizierung der Knochen beginnt. Sie können ab dem späten ersten Trimenon (″first trimester assessment″) sonografisch gut dargestellt und beurteilt werden (Khalil et al. 2011).

Literatur

  1. Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, Cole TJ (2011) New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol Mar: 37(3):283–289CrossRefGoogle Scholar
  2. Cohen M (2011) Apert, Crouzon, and Pfeiffer Syndromes. In: Muenke M, Kress W, Collmann H, Solomon BD (Hrsg) Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment. Monogr Hum Genet. Karger, Basel (19: 67 88)Google Scholar
  3. Delahaye S, Bernard JP, Rénier D, Ville Y (2003) Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol 21:347–353CrossRefPubMedPubMedCentralGoogle Scholar
  4. Esser T, Rogalla P, Bamberg C, Kalache KD (2005) Application of the three-dimensional maximum mode in prenatal diagnosis of Apert syndrome. Am J Obstet Gynecol 193:1743–1745CrossRefPubMedPubMedCentralGoogle Scholar
  5. EUROCAT Website Database (2010) http://www.eurocat-network.eu/ACCESSPREVALENCEDATA/PrevalenceTables Copyright: University of Ulster (data uploaded 06/07/2011)Google Scholar
  6. Faro C, Benoit B, Wegrzyn P, Chaoui R, Nicolaides KH (2005) Three-dimensional sonografic description of the fetal frontal bones and metopic suture. Ultrasound Obstet Gynecol 26:618–621CrossRefPubMedPubMedCentralGoogle Scholar
  7. Gold NB, Westgate M-N, Holmes LB (2011) Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet Part A 155:1225–1235CrossRefGoogle Scholar
  8. Khalil A, Pajkrt E, Chitty LS (2011) Early prenatal diagnosis of skeletal anomalies. Prenat Diagn 31(1):115–124CrossRefPubMedPubMedCentralGoogle Scholar
  9. Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL (2008) Evaluation of prenatal-onset osteochondrodysplasias by ultrasonografy: a retrospective and prospective analysis. Am J Med Genet A 146 A(15):1917–1924CrossRefGoogle Scholar
  10. Krakow D, Lachman RS, Rimoin DL (2009) Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med 11(2):127–133CrossRefPubMedPubMedCentralGoogle Scholar
  11. Merz E, Wellek S (1996) Das normale fetale Wachstumsprofil – ein einheitliches Modell zur Berechnung von Normkurven für die gängigen Kopf- und Abdomenparameter sowie die großen Extremitätenknochen. Ultraschall Med 17(4):153–162CrossRefPubMedGoogle Scholar
  12. Moore KL, Persaud TVN (2007) The developing human. Saunders Elsevier, Google Scholar
  13. OMIM® – Online Mendelian Inheritance in Man® (2011) www.omim.org und http://www.ncbi.nlm.nih.gov/omim [Accessed 11 July 2013]Google Scholar
  14. Paladini D, Greco E, Sglavo G et al (2010) Congenital anomalies of upper extremities: prenatal ultrasound diagnosis, significance, and outcome. Am J Obstet Gynecol 202:596.e1–596.e10CrossRefGoogle Scholar
  15. Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB (1996) Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 61:49–58CrossRefPubMedGoogle Scholar
  16. Rice K, Ballas J, Lai E, Hartney C, Jones M, Pretorius D (2011) Diagnosis of Fetal Limb Abnormalities Before 15 Weeks. J Ultrasound Med 30:1009–1019CrossRefPubMedGoogle Scholar
  17. Romosan G, Henriksson E, Rylander A, Valentin L (2009) Diagnostic performance of routine ultrasound screening for fetal abnormalities in an unselected Swedish population in 2000–2005. Ultrasound Obstet Gynecol Nov: 34(5):526–533CrossRefGoogle Scholar
  18. Schramm T (2011) Prenatal Sonografic Diagnosis of Craniosynostosis. In: Muenke M, Kress W, Collmann H, Solomon BD (Hrsg) Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment. Monogr Hum Genet,19 Karger, Basel, S. 184–198CrossRefGoogle Scholar
  19. Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B (2009) Prenatal sonografic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol 34(2):160–170CrossRefPubMedPubMedCentralGoogle Scholar
  20. Sharma R, Stone S, Alzouebi A, Hamoda H, Kumar S (2011) Perinatal outcome of prenatally diagnosed congenital talipes equinovarus. Prenat Diagn 31(2):142–145CrossRefPubMedGoogle Scholar
  21. Snijders RJ, Nicolaides KH (1994) Fetal biometry at 14–40 weeks’ gestation. Ultrasound Obstet Gynecol 4(1):34–48CrossRefPubMedGoogle Scholar
  22. Solomon B, Muenke M (2011) Muenke-Syndrom. in Muenke M, Kress W, Collmann H, Solomon BD (eds): Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment. Monogr Hum Genet. Basel, Karger, vol 19, pp 89–98Google Scholar
  23. Stoll C, Dott B, Roth MP, Alembik Y (1989) Birth prevalence rates ofskeletal dysplasias. Clin Genet 35:88–92CrossRefPubMedGoogle Scholar
  24. Stoll C, Mastroiacovo P, de Wals P, Weatherall J, Garne E (2004) EUROCAT Guide 3 (2nd Ed) For the Description and Classification of Congenital Limb DefectsGoogle Scholar
  25. Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi M (2000) Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenat Diagn 20(10):811–818CrossRefPubMedGoogle Scholar
  26. Swanson AB, Swanson GD, Tada K (1983) A classification for congenital limb malformation. J Hand Surg Am 8(5 Pt 2):693–702CrossRefPubMedGoogle Scholar
  27. Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH (2011) Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 31(1):90–102CrossRefPubMedPubMedCentralGoogle Scholar
  28. van Bosse HJ (2011) Ponseti treatment for clubfeet: an international perspective. Curr Opin Pediatr 23(1):41–45CrossRefPubMedGoogle Scholar
  29. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrerM, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A (2010) Nosology and classification of genetic skeletal disorders: revision. Am J Med Genet Part A 155(943):968Google Scholar
  30. Winter R, Baraitser M (2007) Winter-Baraitser Dysmorphology Database, Version 1.0.19 (London medical databases Ltd, London, UK)Google Scholar
  31. Yeh P, Saeed F, Paramasivam G, Wyatt-Ashmead J, Kumar S (2011) Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias. Prenat Diagn 31(5):515–518CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Thomas Schramm
    • 1
  1. 1.Pränatal-Medizin MünchenMünchenDeutschland

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