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Omphalocele

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Omphalocele is a congenital herniation of viscera into the base of the umbilical cord, covered by a membranous sac. The incidence of omphalocele is approximately 1 in 4000 births (Baird and MacDonald 1981).

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References

  • Baird, P. A., & MacDonald, E. C. (1981). An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. American Journal of Human Genetics, 33, 470–478.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Barisic, I., Clement, M., Häusler, M., et al. (2001). Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound in Obstetrics & Gynecology, 18, 309–316.

    Article  CAS  Google Scholar 

  • Benacerraf, B. R., Saltzman, D. H., Estroff, J. A., et al. (1990). Abnormal karyotype of fetuses with omphalocele: Prediction based on omphalocele contents. Obstetrics and Gynecology, 75, 317–321.

    CAS  PubMed  Google Scholar 

  • Biard, J. M., Wilson, R. D., Johnson, M. P., et al. (2004). Prenatally diagnosed giant omphaloceles: Short- and long-term outcomes. Prenatal Diagnosis, 24, 434–439.

    Article  PubMed  Google Scholar 

  • Bonilla-Musoles, F., Machado, L. E., Bailao, L. A., et al. (2001). Abdominal wall defects: Two- versus three-dimensional ultrasonographic diagnosis. Journal of Ultrasound in Medicine, 20, 379–389.

    Article  CAS  PubMed  Google Scholar 

  • Cannie, M., Jani, J. C., De Keyzer, F., et al. (2006). Fetal body volume: Use at MR imaging to quantify relative lung volume in fetuses suspected of having pulmonary hypoplasia. Radiology, 241, 847–853.

    Article  PubMed  Google Scholar 

  • Cantrell, J. R., Haller, J. A., & Ravitch, M. M. (1958). A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surgery Gynecology and Obstetrics, 107, 602–614.

    CAS  Google Scholar 

  • Carey, J. C., Greenbaum, B., & Hall, B. D. (1978). The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Original Article Series, 14(6B), 253–263.

    CAS  PubMed  Google Scholar 

  • Chen, H., Gershanik, J. J., Mailhes, J. B., et al. (1979). Omphalocele and partial trisomy 1q syndrome. Human Genetics, 53, 1–4.

    Article  CAS  PubMed  Google Scholar 

  • Chitayat, D., Toi, A., Babul, R., et al. (1997). Omphalocele in Miller-Dieker syndrome: Expanding the phenotype. American Journal of Medical Genetics, 69, 293–298.

    Article  CAS  PubMed  Google Scholar 

  • Christison-Legay, E. R., Kelleher, C. M., & Langer, J. C. (2011). Neonatal abdominal wall defects. Seminars in Fetal & Neonatal Medicine, 16, 164–172.

    Article  Google Scholar 

  • Czeizel, A. (1983). New lethal omphalocele-cleft palate syndrome? Human Genetics, 64, 99.

    Article  CAS  PubMed  Google Scholar 

  • Duhamel, B. (1963). Embryology of exomphalos and allied malformations. Archives of Disease in Childhood, 38, 142–147.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Edwards, E. A., Broome, S., Green, S., et al. (2007). Long-term respiratory support in children with giant omphalocele. Anaesthesia and Intensive Care, 35, 94–98.

    CAS  PubMed  Google Scholar 

  • Frolov, P., Alali, J., & Klein, M. D. (2010). Clinical risk factors for gastroschisis and omphalocele in humans: A review of the literature. Pediatric Surgery International, 26(12), 1135–1148.

    Article  PubMed  Google Scholar 

  • Havalad, S., Noblett, H., & Speidel, B. D. (1979). Familial occurrence of omphalocele suggesting sex-linked inheritance. Archives of Disease in Childhood, 54, 142–145.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Heider, A. L., Strauss, R. A., & Kuller, J. A. (2004). Omphalocele: Clinical outcomes in cases with normal karyotypes. American Journal of Obstetrics and Gynecology, 190, 135–141.

    Article  PubMed  Google Scholar 

  • Islam, S. (2012). Advances in surgery for abdominal wall defects: Gastroschisis and omphalocele. Clinical Perinatology, 39, 375–386.

    Article  Google Scholar 

  • Kanagawa, S. L., Begleiter, M. L., Ostlie, D. J., et al. (2002). Omphalocele in three generations with autosomal dominant transmission. Journal of Medical Genetics, 39, 184–185.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kelly, K. B., & Ponsky, T. a. (2013). Pediatric abdominal wall defects. Surgical Clinics of North America, 93, 1255–1267.

    Article  PubMed  Google Scholar 

  • Keppler-Noreuil, K. M. (2001). OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): A review of 14 cases. American Journal of Medical Genetics, 99, 271–279.

    Article  CAS  PubMed  Google Scholar 

  • Kilby, M. D., Lander, A., & Usher-Somers, M. (1998). Exomphalos (omphalocele). Prenatal Diagnosis, 18, 1283–1288.

    Article  CAS  PubMed  Google Scholar 

  • Koivusalo, A., Rintala, R., & Lindahl, H. (1999). Gastroesophageal reflux in children with a congenital abdominal wall defect. Journal of Pediatric Surgery, 34, 1127–1129.

    Article  CAS  PubMed  Google Scholar 

  • Langer, J. C. (1996). Gastroschisis and omphalocele. Seminars in Pediatric Surgery, 5, 124–128.

    CAS  PubMed  Google Scholar 

  • Ledbetter, D. J. (2012). Congenital abdominal wall defects and reconstruction in pediatric surgery: Gastroschisis and omphalocele. Surgical Clinics of North America, 92, 713–727.

    Article  PubMed  Google Scholar 

  • Lee, S. L., Beyer, T. D., Kim, S. S., et al. (2006). Initial nonoperative management and delayed closure for treatment of giant omphaloceles. Journal of Pediatric Surgery, 41, 1846–1849.

    Article  PubMed  Google Scholar 

  • Lin, A. E., & Gettig, E. (1990). Craniosynostosis, agenesis of the corpus callosum, severe mental retardation, distinctive facies, camptodactyly, and hypogonadism. American Journal of Medical Genetics, 35, 582–585.

    Article  CAS  PubMed  Google Scholar 

  • Lin, H. J., Schaber, B., Hashimoto, C. H., et al. (1998). Omphalocele with absent radial ray (ORR): A case with diploid-triploid mixoploidy. American Journal of Medical Genetics, 75, 235–239.

    Article  CAS  PubMed  Google Scholar 

  • Loder, R. T., & Guiboux, J. P. (1993). Musculoskeletal involvement in children with gastroschisis and omphalocele. Journal of Pediatric Surgery, 28, 584–590.

    Article  CAS  PubMed  Google Scholar 

  • Mann, S., Blinman, T. A., & Wilson, R. D. (2008). Prenatal and postnatal management of omphalocele. Prenatal Diagnosis, 28, 626–632.

    Article  PubMed  Google Scholar 

  • Mayer, T. (1980). Gastroschisis and omphalocele: An eight year review. Annals of Surgery, 192, 783–785.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mlczoch, E., & Carvalho, J. S. (2015). Interrupted inferior vena cava in fetuses with omphalocele. Case series of fetuses referred for fetal echocardiography and review of the literature. Early Human Development, 91, 1–6.

    Article  PubMed  Google Scholar 

  • Nakagawa, M., Hara, M., & Shibamoto, Y. (2013). MRI findings in fetuses with an abdominal wall defect: Gastroschisis, omphalocele, and cloacal exstrophy. Japan Journal of Radiology, 31, 153–159.

    Article  Google Scholar 

  • Nyberg, D. A., Fitzsimmons, J., Mack, L. A., et al. (1989). Chromosomal abnormalities in fetuses with omphalocele: Significance of omphalocele contents. Journal of Ultrasound in Medicine, 8, 299–308.

    Article  CAS  PubMed  Google Scholar 

  • Pacilli, M., Spitz, L., Kiely, E. M., et al. (2005). Staged repair of giant omphalocele in the neonatal period. Journal of Pediatric Surgery, 40, 785–788.

    Article  PubMed  Google Scholar 

  • Paidas, M. J., Crombleholme, T. M., & Robertson, F. M. (1994). Prenatal diagnosis and management of the fetus with an abdominal wall defect. Seminars in Perinatology, 18, 196–214.

    CAS  PubMed  Google Scholar 

  • Palomski, G. E., Hill, L. E., & Knight, G. J. (1988). Second-trimester maternal serum alpha-fetoprotein levels in pregnancies associated with gastroschisis and omphalocele. Obstetrics and Gynecology, 71, 906.

    Google Scholar 

  • Partridge, E. A., Hanna, B. D., Panitch, H. B., et al. (2014). Pulmonary hypertension in giant omphalocele infants. Journal of Pediatric Surgery, 49, 1767–1770.

    Article  PubMed  Google Scholar 

  • Prefumo, F., & Izzi, C. (2014). Fetal abdominal wall defects. Best Practice & Research. Clinical Obstetrics & Gynaecology, 28, 391–402.

    Article  Google Scholar 

  • Pumberger, W., Patzak, B., Prayer, D., et al. (2003). Fetal liver magnetic resonance imaging in anterior body wall defects: A study of specimens from the museum of pathology. Journal of Pediatric Surgery, 38, 1147–1151.

    Article  CAS  PubMed  Google Scholar 

  • Shprintzen, R. J., & Goldberg, R. B. (1979). Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. Birth Defects Original Article Series, XV, 347–353.

    Google Scholar 

  • Takada, K., Hamada, Y., Watanabe, K., et al. (2006). Antenatal magnetic resonance imaging is useful in providing predictive values for surgical procedures in abdominal wall defects. Journal of Pediatric Surgery, 41, 1962–1966.

    Article  PubMed  Google Scholar 

  • Travassos, D. V., Van Eerde, A. M., & Kramer, W. L. M. (2015). Management of a giant omphalocele with non–cross-linked intact porcine-derived acellular dermal matrix (Strattice) combined with vacuum therapy. European Journal of Pediatric Surgery Reports, 3, 61–63.

    Article  PubMed  PubMed Central  Google Scholar 

  • Tucci, M., & Bard, H. (1990). The associated anomalies that determine prognosis in congenital omphaloceles. American Journal of Obstetrics and Gynecology, 163, 1646–1649.

    Article  CAS  PubMed  Google Scholar 

  • Upadhyay, N., Pai, M. V., Nayak, S. S., et al. (2016). Congenital omphalocele and cleft palate in two fetuses. Congenital Anomalies, 56, 190–191.

    Article  PubMed  Google Scholar 

  • Yatsenko, S. A., Mendoza-Londono, R., Belmont, J. W., et al. (2003). Omphalocele in trisomy 3q: Further delineation of phenotype. Clinical Genetics, 64, 404–413.

    Article  CAS  PubMed  Google Scholar 

  • Yazbeck, S., Ndoye, M., & Khan, A. D. (1986). Omphalocele: A 25 year experience. Journal of Pediatric Surgery, 21, 761–763.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). Omphalocele. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_183

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_183

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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