Advertisement

Pediatric Surgery International

, Volume 26, Issue 12, pp 1135–1148 | Cite as

Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature

  • Polina Frolov
  • Jasem Alali
  • Michael D. Klein
Review Article

Abstract

Gastroschisis and omphalocele are usually considered together since they are both congenital abdominal wall defects, and yet their anatomy, embryogenesis, and clinical presentation and problems are quite different. In addition, it appears that the risk factors for their occurrence differ. Etiologic factors contributing to the development of these defects are unknown. To investigate this we have reviewed reports of risk factors for each anomaly and report them here. We conducted a literature search using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) for risk factors implicated in the development of gastroschisis and omphalocele. The data reviewed here from clinical studies in the literature, closely parallels the data in animal studies which we reported earlier. There is little evidence for a genetic cause in the development of gastroschisis and much evidence supporting the possibility that environmental teratogens are important contributors to the development of this defect. On the other hand, in the case of omphalocele, there was little evidence for environmental factors and substantial data indicating that genetic or familial factors may play an important role.

Keywords

Abdominal wall defect Gastroschisis Omphalocele Teratogens Risk factors Associated anomalies 

References

  1. 1.
    Lammer EJ, Iovannisci DM, Tom L, Schultz K, Shaw GM (2008) Gastroschisis: a gene-environment model involving the VEGF-NOS3 pathway. Am J Med Gen Part C 148C:213–218CrossRefGoogle Scholar
  2. 2.
    Suver D, Lee SL, Shekherdimian S, Kim SS (2008) Left-sided gastroschisis: higher incidence of extraintestinal congenital anomalies. Am J Surg 195:663–666PubMedCrossRefGoogle Scholar
  3. 3.
    Gow KW, Bhatia A, Saad DF, Wulkan ML, Heiss KF (2006) Left-sided gastroschisis. Am Surg 72:637–640PubMedGoogle Scholar
  4. 4.
    Van Dorp DR, Malleis JM, Sullivan BP, Klein MD (2009) Teratogens inducing congenital abdominal wall defects in animal models. Pediatr Surg Int. doi: 10.1007/s00383-009-2482-z
  5. 5.
    Stoll C, Alembik Y, Dott B, Roth MP (2008) Omphalocele and gastroschisis and associated malformations. Am J Med Genet A 146A:1280–1285PubMedCrossRefGoogle Scholar
  6. 6.
    Gabrielli S, Reeece EA (1992) Gastrointestinal and genitourinary anomalies. In: Reece FA, Hobbins JC, Mahomey MJ et al (eds) Medicine of the fetus and the mother. JB Lippincott Co, Philadelphia, pp 551–557Google Scholar
  7. 7.
    Laughon M, Meyer R, Bose C, Wall A, Otero E, Heerens A et al (2003) Rising birth prevalence of gastroschisis. J Perinatol 23:291–293PubMedCrossRefGoogle Scholar
  8. 8.
    Siega-Riz AM, Herring AH, Olshan AF, Smith J, Moore C, National Birth Defects Prevention Study (2009) The joint effects of maternal prepregnancy body mass index and age on the risk of gastroschisis. Paediatr Perinat Epidemiol 23:51–57PubMedCrossRefGoogle Scholar
  9. 9.
    Baird PA, MacDonald EC (1981) An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. Am J Hum Genet 33:470–478PubMedGoogle Scholar
  10. 10.
    Salihu HM, Pierre-Louis BJ, Druschel CM, Kirby RS (2003) Omphalocele and gastroschisis in the state of New York, 1992–1999. Birth Defects Res A Clin Mol Teratol 67:630–636PubMedCrossRefGoogle Scholar
  11. 11.
    Collins SR, Griffin MR, Arbogast PG, Walsh WF, Rush MR, Carter BS, Dudley J, Cooper WO (2007) The rising prevalence of gastroschisis and omphalocele in Tennessee. J Pediatr Surg 42:1221–1224PubMedCrossRefGoogle Scholar
  12. 12.
    Fillingham A, Rankin J (2008) Prevalence, prenatal diagnosis and survival of gastroschisis. Perinat Diagn 28:1232–1237CrossRefGoogle Scholar
  13. 13.
    Chen XK, Wen SW, Fleming N, Yang O, Walker MC (2007) Teenage pregnancy and congenital anomalies: which system is vulnerable? Hum Reprod 22:1730–1735PubMedCrossRefGoogle Scholar
  14. 14.
    Baerg J, Kaban G, Tonita J, Pahwa P, Reid D (2003) Gastroschisis: a sixteen-year review. J Pediatr Surg 38:771–774PubMedCrossRefGoogle Scholar
  15. 15.
    Curry JI, MCKinney P, Thornton JG, Stringer MD (2000) The aetiology of gastroschisis. BJOG 107:1339–1346PubMedCrossRefGoogle Scholar
  16. 16.
    Byron -Scott R, Haan E, Chan A, Bower C, Scott H, Clark K (1998) A population-based study of abdominal wall defects in South Australia and Western Australia. Paediatr Perinat Epidemiol 12(2):136–151PubMedCrossRefGoogle Scholar
  17. 17.
    Kazaura MR, Lie RT, Irgens LM, Didriksen A, Kapstad M et al (2004) Increasing risk of gastroschisis in Norway: an age-period-cohort analysis. Am J Epidemiol 159:358–363PubMedCrossRefGoogle Scholar
  18. 18.
    Mastroiacovo P (2008) Risk factors for gastroschisis Genitourinary infacetion in early pregnancy can be added to the exisiting list. BMJ 336:1386–1387PubMedCrossRefGoogle Scholar
  19. 19.
    Ledbetter DJ (2006) Gastroschisis and omphalocele. Surg Clin North Am 86:249–260PubMedCrossRefGoogle Scholar
  20. 20.
    Kilby MD, Lander A, Usher-Somers M (1998) Exomphalos (omphalocele). Prenat Diagn 18:1283–1288PubMedCrossRefGoogle Scholar
  21. 21.
    Tan KH, Kilby MD, Whittle MJ, Beattie BR, Booth IW, Botting BJ (1996) Congenital anterior abdominal wall defects in England and Wales 1987–93: retrospective analysis of OPCS data. Br Med J 313:903–906Google Scholar
  22. 22.
    Eckstein BH (1963) Exomphalos: a review of 100 cases. Br J Surg 50:405CrossRefGoogle Scholar
  23. 23.
    Williams T (2008) Animal models of ventral body wall closure defects: a personal perspective on gastroschisis. Am J Med Genet C Semin Med Genet 148C:186–191PubMedCrossRefGoogle Scholar
  24. 24.
    Moore TC, Stokes GE (1953) Gastroschisis: report of two cases treated by a modification of the Gross operation for omphalocele. Surgery 33:112–120PubMedGoogle Scholar
  25. 25.
    Torfs C, Curry C, Roeper P (1990) Gastroschisis. J Pediatr 116:1–6PubMedCrossRefGoogle Scholar
  26. 26.
  27. 27.
    Benson CD, Penberthy GC, Hill EJ (1949) Hernia into umbilical cord and omphalocele. Arch Surg 58:833–847PubMedGoogle Scholar
  28. 28.
    Feldkamp ML, Carey JC, Sadler TW (2007) Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. Am J Med Genet A 143:639–652PubMedGoogle Scholar
  29. 29.
    Materna-Kiryluk A, Wiśniewska K, Badura-Stronka M et al (2009) Parental age as a risk factor for isolated congenital malformations in a Polish population. Paediatr Perinat Epidemiol 23:29–40PubMedCrossRefGoogle Scholar
  30. 30.
    Husain T, Langlois PH, Sever LE, Gambello MJ (2008) Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996–2002. Birth Defects Res A Clin Mol Teratol 82:435–440PubMedCrossRefGoogle Scholar
  31. 31.
    Tan KB, Tan KH, Chew SK, Yeo GS (2008) Gastroschisis and omphalocele in Singapore: a ten-year series from 1993 to 2002. Singapore Med J 49:31–36PubMedGoogle Scholar
  32. 32.
    Zamakhshary M, Yanchar NL (2007) Complicated gastroschisis and maternal smoking: a causal association? Pediatr Surg Int 23:841–844PubMedCrossRefGoogle Scholar
  33. 33.
    Forrester MB, Merz RD (2006) Comparison of trends in gastroschisis and prenatal illicit drug use rates. J Toxicol Environ Health A 69:1253–1259PubMedCrossRefGoogle Scholar
  34. 34.
    Lam PK, Torfs CP (2006) Interaction between maternal smoking and malnutrition in infant risk of gastroschisis. Birth Defects Res A Clin Mol Teratol 76:182–186PubMedCrossRefGoogle Scholar
  35. 35.
    Hougland KT, Hanna AM, Meyers R, Null D (2005) Increasing prevalence of gastroschisis in Utah. J Pediatr Surg 40(3):535–540PubMedCrossRefGoogle Scholar
  36. 36.
    Reefhuis J, Honein MA (2004) Maternal age and non-chromosomal birth defects, Atlanta-1968–2000: teenager or thirty-something, who is at risk? Birth Defects Res A Clin Mol Teratol 70:572–579PubMedCrossRefGoogle Scholar
  37. 37.
    Hsu CC, Lin SP, Chen CH et al (2002) Omphalocele and gastroschisis in Taiwan. Eur J Pediatr 161:552–555PubMedCrossRefGoogle Scholar
  38. 38.
    Forrester MB, Merz RD (1999) Epidemiology of abdominal wall defects, Hawaii, 1986–1997. Teratology 60:117–123PubMedCrossRefGoogle Scholar
  39. 39.
    Nichols CR, Dickinson JE, Pemberton PJ (1997) Rising incidence of gastroschisis in teenage pregnancies. J Matern Fetal Med 6:225–229PubMedCrossRefGoogle Scholar
  40. 40.
    Haddow JE, Palomaki GE, Holman MS (1993) Young maternal age and smoking during pregnancy as risk factors for gastroschisis. Teratology 47:225–228PubMedCrossRefGoogle Scholar
  41. 41.
    Werler MM, Mitchell AA, Shapiro S (1992) Demographic, reproductive, medical, and environmental factors in relation to gastroschisis. Teratology 45:353–360PubMedCrossRefGoogle Scholar
  42. 42.
    Bird TM et al (2009) Demographic and environmental risk factors for gastroschisis and omphalocele in the national birth defects prevention study. J Pediatr Surg 44:1546–1551CrossRefGoogle Scholar
  43. 43.
    Archer NP, Langlois PH, Suarez L et al (2007) Association of paternal age with prevalence of selected birth defects. Birth Defects Res A Clin Mol Teratol 79:27–34PubMedCrossRefGoogle Scholar
  44. 44.
    Abdullah F, Arnold MA, Nabaweesi R et al (2007) Gastroschisis in the United States 1988–2003: analysis and risk categorization of 4344 patients. J Perinatol 27:50–55PubMedCrossRefGoogle Scholar
  45. 45.
    Torfs CP, Lam PK, Schaffer DM, Brand RJ (1998) Association between mothers’ nutrient intake and their offspring’s risk of gastroschisis. Teratology 58:241–250PubMedCrossRefGoogle Scholar
  46. 46.
    Blanch G, Quenby S, Ballantyne ES et al (1998) Embryonic abnormalities at medical termination of pregnancy with mifepristone and misoprostol during first trimester: observational study. BMJ 316:1712–1713PubMedGoogle Scholar
  47. 47.
    Torfs CP, Velie EM, Oechsli FW, Bateson TF, Curry CJ (1994) A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology 50:44–53PubMedCrossRefGoogle Scholar
  48. 48.
    Goldbaum G, Daling J, Milham S (1990) Risk factors for gastroschisis. Teratology 42:397–403PubMedCrossRefGoogle Scholar
  49. 49.
    Chambers CD, Chen BH, Kalla K et al (2007) Novel risk factor in gastroschisis: change of paternity. Am J Med Genet A 143:653–659PubMedGoogle Scholar
  50. 50.
    Rittler M, Castilla EE, Chambers C, Lopez-Camelo JS (2007) Risk for gastroschisis in primigravidity, length of sexual cohabitation, and change in paternity. Birth Defects Res A Clin Mol Teratol 79:483–487PubMedCrossRefGoogle Scholar
  51. 51.
    Draper ES, Rankin J, Tonks AM et al (2008) Recreational drug use: a major risk factor for gastroschisis? Am J Epidemiol 167:485–491PubMedCrossRefGoogle Scholar
  52. 52.
    Godwin KA, Sibbald B, Bedard T et al (2008) Changes in frequencies of select congenital anomalies since the onset of folic acid fortification in a Canadian birth defect registry. Can J Public Health 99:271–275PubMedGoogle Scholar
  53. 53.
    Lam PK, Torfs CP, Brand RJ (1999) A low pregnancy body mass index is a risk factor for an offspring with gastroschisis. Epidemiology 10:717–721PubMedCrossRefGoogle Scholar
  54. 54.
    Stothard KJ, Tennant PW, Bell R, Rankin J (2009) Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis. JAMA 301:636–650PubMedCrossRefGoogle Scholar
  55. 55.
    Waller DK, Shaw GM, Rasmussen SA et al (2007) National birth defects prevention study. Prepregnancy obesity as a risk factor for structural birth defects. Arch Pediatr Adolesc Med 161:745–750PubMedCrossRefGoogle Scholar
  56. 56.
    Werler MM, Sheehan JE, Mitchell AA (2003) Association of vasoconstrictive exposures with risks of gastroschisis and small intestinal atresia. Epidemiology 14:349–354PubMedCrossRefGoogle Scholar
  57. 57.
    Kozer E, Nikfar S, Costei A et al (2002) Aspirin consumption during the first trimester of pregnancy and congenital anomalies: a meta-analysis. Am J Obstet Gynecol 187:1623–1630PubMedCrossRefGoogle Scholar
  58. 58.
    Werler MM, Sheehan JE, Mitchell AA (2002) Maternal medication use and risks of gastroschisis and small intestinal atresia. Am J Epidemiol 155:26–31PubMedCrossRefGoogle Scholar
  59. 59.
    Martínez-Frías ML, Rodríguez-Pinilla E, Prieto L (1997) Prenatal exposure to salicylates and gastroschisis: a case-control study. Teratology 56:241–243PubMedCrossRefGoogle Scholar
  60. 60.
    Drongowski RA, Smith RK Jr, Coran AG, Klein MD (1991) Contribution of demographic and environmental factors to the etiology of gastroschisis: a hypothesis. Fetal Diagn Ther 6:14–27PubMedCrossRefGoogle Scholar
  61. 61.
    Werler MM, Mitchell AA, Shapiro S (1992) First trimester maternal medication use in relation to gastroschisis. Teratology 45:361–367PubMedCrossRefGoogle Scholar
  62. 62.
    Nørgård B, Puhó E, Czeizel AE et al (2005) Aspirin use during early pregnancy and the risk of congenital abnormalities: a population-based case-control study. Am J Obstet Gynecol 192:922–923PubMedCrossRefGoogle Scholar
  63. 63.
    Adjei AA, Gaedigk A, Simon SD et al (2008) Interindividual variability in acetaminophen sulfation by human fetal liver: implications for pharmacogenetic investigations of drug-induced birth defects. Birth Defects Res A Clin Mol Teratol 82:155–165PubMedCrossRefGoogle Scholar
  64. 64.
    Weinsheimer RL, Yanchar NL, Canadian Pediatric Surgical Network (2008) Impact of maternal substance abuse and smoking on children with gastroschisis. J Pediatr Surg 43:879–883PubMedCrossRefGoogle Scholar
  65. 65.
    Torfs CP, Christianson RE, Iovannisci DM et al (2006) Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. Birth Defects Res A Clin Mol Teratol 76:723–730PubMedCrossRefGoogle Scholar
  66. 66.
    Goldkrand JW, Causey TN, Hull EE (2004) The changing face of gastroschisis and omphalocele in southeast Georgia. J Matern Fetal Neonatal Med 15:331–335PubMedCrossRefGoogle Scholar
  67. 67.
    Honein MA, Paulozzi LJ, Watkins ML (2001) Maternal smoking and birth defects: validity of birth certificate data for effect estimation. Public Health Rep 116:327–335PubMedCrossRefGoogle Scholar
  68. 68.
    Feldkamp ML, Alder SC, Carey JC (2008) A case control population-based study investigating smoking as a risk factor for gastroschisis in Utah, 1997–2005. Birth Defects Res A Clin Mol Teratol 82:768–775PubMedCrossRefGoogle Scholar
  69. 69.
    Morrison JJ, Chitty LS, Peebles D, Rodeck CH (2005) Recreational drugs and fetal gastroschisis: maternal hair analysis in the peri-conceptional period and during pregnancy. BJOG 112:1022–1025PubMedCrossRefGoogle Scholar
  70. 70.
    Martin ML, Khoury MJ, Cordero JF, Waters GD (1992) Trends in rates of multiple vascular disruption defects, Atlanta, 1968–1989: is there evidence of a cocaine teratogenic epidemic? Teratology 45:647–653PubMedCrossRefGoogle Scholar
  71. 71.
    Hwang PJ, Kousseff BG (2004) Omphalocele and gastroschisis: an 18-year review study. Genet Med 6:232–236PubMedCrossRefGoogle Scholar
  72. 72.
    Watkins ML, Rasmussen SA, Honein MA et al (2003) Maternal obesity and risk for birth defects. Pediatrics 111:1152–1158PubMedGoogle Scholar
  73. 73.
    Botto LD, Erickson JD, Mulinare J et al (2002) Maternal fever, multivitamin use, and selected birth defects: evidence of interaction? Epidemiology 13:485–488PubMedCrossRefGoogle Scholar
  74. 74.
    Botto LD, Mulinare J, Erickson JD (2002) Occurrence of omphalocele in relation to maternal multivitamin use: a population-based study. Pediatrics 109:904–908PubMedCrossRefGoogle Scholar
  75. 75.
    Gardiki-Kouidou P, Seller MJ (1988) Amniotic fluid folate, vitamin B12 and transcobalamins in neural tube defects. Clin Genet 33:441–448PubMedCrossRefGoogle Scholar
  76. 76.
    Boskovic R, Gargaun L, Oren D et al (2005) Pregnancy outcome following high doses of Vitamin E supplementation. Reprod Toxicol 20:85–88PubMedCrossRefGoogle Scholar
  77. 77.
    Waller DK et al (2001) Do Infants with major congenital anomalies have an excess of macrosomia? Teratology 64:311–317PubMedCrossRefGoogle Scholar
  78. 78.
    Canfield MA, Collins JS, Botto LD, National Birth Defects Preventin Network et al (2005) Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study. Birth Defects Res A Clin Mol Teratol 73:679–689PubMedCrossRefGoogle Scholar
  79. 79.
    Mills JL, Druschel CM, Pangilinan F et al (2005) Folate-related genes and omphalocele. Am J Med Genet A 136:8–11PubMedGoogle Scholar
  80. 80.
    Alwan S, Reefhuis J, Rasmussen SA, National Birth Defects Prevention Study et al (2007) Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects. N Engl J Med 356:2684–2692PubMedCrossRefGoogle Scholar
  81. 81.
    SSRI antidepressants and birth defects (2006) Prescrire Int 15(86):222–223Google Scholar
  82. 82.
    Louik C, Lin AE, Werler MM et al (2007) First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects. N Engl J Med 356:2675–2683PubMedCrossRefGoogle Scholar
  83. 83.
    Källén BA, Otterblad Olausson P (2007) Maternal use of selective serotonin re-uptake inhibitors in early pregnancy and infant congenital malformations. Birth Defects Res A Clin Mol Teratol 79:301–308PubMedCrossRefGoogle Scholar
  84. 84.
    Ericson A, Källén B (2001) Congenital malformations in infants born after IVF: a population-based study. Hum Reprod 16:504–509PubMedCrossRefGoogle Scholar
  85. 85.
    Blazer S, Zimmer EZ, Gover A, Bronshtein M (2004) Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes. Radiology 232:191–195PubMedCrossRefGoogle Scholar
  86. 86.
    Gilbert WM, Nicolaides KH (1987) Fetal omphalocele: associated malformations and chromosomal defects. Obstet Gynecol 70:633–635PubMedGoogle Scholar
  87. 87.
    De Veciana M, Major CA, Porto M (1994) Prediction of an abnormal karyotype in fetuses with omphalocele. Prenat Diagn 14:487–492PubMedCrossRefGoogle Scholar
  88. 88.
    de Pater JM, Nikkels PG, Poot M et al (2005) Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q. Pediatr Dev Pathol 8:497–503PubMedCrossRefGoogle Scholar
  89. 89.
    Tongsong T, Sirichotiyakul S, Wanapirak C, Chanprapaph P (2002) Sonographic features of trisomy 18 at midpregnancy. J Obstet Gynaecol Res 28:245–250PubMedCrossRefGoogle Scholar
  90. 90.
    Claussen U, Ulmer R, Beinder E, Voigt HJ (1994) Six years’ experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype. Prenat Diagn 14:113–121PubMedCrossRefGoogle Scholar
  91. 91.
    van Maldergem L, Gillerot Y, Koulischer L (1989) Neural tube defects and omphalocele in trisomy 18. Clin Genet 35:77–78PubMedCrossRefGoogle Scholar
  92. 92.
    Moore CA, Harmon JP, Padilla LM et al (1988) Neural tube defects and omphalocele in trisomy 18. Clin Genet 34:98–103PubMedCrossRefGoogle Scholar
  93. 93.
    Chen CP (2005) Omphalocele and congenital diaphragmatic hernia associated with fetal trisomy 18. Prenat Diagn 25:421–423PubMedCrossRefGoogle Scholar
  94. 94.
    Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC (2004) Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. Am J Med Genet A 130:277–283CrossRefGoogle Scholar
  95. 95.
    Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER (1999) Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet 36:518–523PubMedGoogle Scholar
  96. 96.
    Chen CP, Lee CC, Chuang CY, Town DD, Lee MS, Chen MH (1997) Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q. Clin Genet 52:196–198PubMedCrossRefGoogle Scholar
  97. 97.
    Kanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MG (2002) Omphalocele in three generations with autosomal dominant transmission. J Med Genet 39:184–185PubMedCrossRefGoogle Scholar
  98. 98.
    Carmi R, Meizner I, Katz M (1990) Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene? Am J Med Genet 36:313–315PubMedCrossRefGoogle Scholar
  99. 99.
    Chen CP (1999) Inconsistency of omphalocoele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q. Prenat Diagn 19:591PubMedCrossRefGoogle Scholar
  100. 100.
    Pryde PG, Greb A, Isada NB, Johnson MB, Klein M, Evans MI (1992) Familial omphalocele: considerations in genetic counseling. Am J Med Genet 44:624–627PubMedCrossRefGoogle Scholar
  101. 101.
    Lafferty PM, Emmerson AJ, Fleming PJ, Frank JD, Noblett HR (1989) Anterior abdominal wall defects. Arch Dis Child 64:1029–1031PubMedCrossRefGoogle Scholar
  102. 102.
    Saxena AK, Hülskamp G, Schleef J, Schaarschmidt K, Harms E, Willital GH (2002) Gastroschisis: a 15-year, single-center experience. Pediatr Surg Int 18:420–424PubMedCrossRefGoogle Scholar
  103. 103.
    Stoll C, Alembik Y, Dott B, Roth MP (2001) Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265, 858 consecutive births. Ann Genet 44:201–208PubMedGoogle Scholar
  104. 104.
    Calzolari E, Volpato S, Bianchi F, Cianciulli D, Tenconi R, Clementi M, Calabro A, Lungarotti S, Mastroiacovo PP, Botto L et al (1993) Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries. Teratology 47:47–55PubMedCrossRefGoogle Scholar
  105. 105.
    Gibbin C, Touch S, Broth RE, Berghella V (2003) Abdominal wall defects and congenital heart disease. Ultrasound Obstet Gynecol 21:334–337PubMedCrossRefGoogle Scholar
  106. 106.
    Novotny DA, Klein RL, Boeckman CR (1993) Gastroschisis: an 18-year review. J Pediatr Surg 28:650–652PubMedCrossRefGoogle Scholar
  107. 107.
    Mastroiacovo P, Lisi A, Castilla EE, Martínez-Frías ML, Bermejo E, Marengo L, Kucik J, Siffel C, Halliday J et al (2007) Gastroschisis and associated defects: an international study. Am J Med Genet A 143:660–671PubMedGoogle Scholar
  108. 108.
    Di Lorenzo M, Yazbeck S, Ducharme JC (1987) Gastroschisis: a 15-year experience. J Pediatr Surg 22:710–712PubMedCrossRefGoogle Scholar
  109. 109.
    Getachew MM, Goldstein RB, Edge V, Goldberg JD, Filly RA (1992) Correlation between omphalocele contents and karyotypic abnormalities: sonographic study in 37 cases. AJR Am J Roentgenol 158:133–136PubMedGoogle Scholar
  110. 110.
    Yazbeck S, Ndoye M, Khan AH (1986) Omphalocele: a 25-year experience. J Pediatr Surg 21:761–763PubMedCrossRefGoogle Scholar
  111. 111.
    Benacerraf BR, Saltzman DH, Estroff JA, Frigoletto FD Jr (1990) Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. Obstet Gynecol 75:317–319PubMedGoogle Scholar
  112. 112.
    Ardinger HH, Williamson RA, Grant S (1987) Association of neural tube defects with omphalocele in chromosomally normal fetuses. Am J Med Genet 27:135–142PubMedCrossRefGoogle Scholar
  113. 113.
    Calzolari E, Bianchi F, Dolk H, Stone D, Milan M (1997) Are omphalocele and neural tube defects related congenital anomalies?: data from 21 registries in Europe (EUROCAT). Am J Med Genet 72:79–84PubMedCrossRefGoogle Scholar
  114. 114.
    Johnson AH (1967) Omphalocele and related defects. Am J Surg 114:279–284PubMedCrossRefGoogle Scholar
  115. 115.
    Sadovnick AD, Baird PA (1985) Congenital malformations associated with anencephaly in liveborn and stillborn infants. Teratology 32:355–361PubMedCrossRefGoogle Scholar
  116. 116.
    Niedrist D, Riegel M, Achermann J, Schinzel A (2006) Survival with trisomy 18—data from Switzerland. Am J Med Genet A 140:952–959PubMedGoogle Scholar
  117. 117.
    Wilkins-Haug L, Porter A, Hawley P, Benson CB (2009) Isolated fetal omphalocele, Beckwith-Wiedemann syndrome, and assisted reproductive technologies. Birth Defects Res A Clin Mol Teratol 85:58–62PubMedCrossRefGoogle Scholar
  118. 118.
    Elliott P, Briggs D, Morris S, de Hoogh C, Hurt C, Jensen TK, Maitland I, Richardson S, Wakefield J, Jarup L (2001) Risk of adverse birth outcomes in populations living near landfill sites. BMJ 323:363–368 Erratum in: BMJ 323:1182PubMedCrossRefGoogle Scholar
  119. 119.
    Dolk H, Vrijheid M, Armstrong B, Abramsky L, Bianchi F, Garne E, Nelen V, Robert E, Scott JE, Stone D, Tenconi R (1998) Risk of congenital anomalies near hazardous-waste landfill sites in Europe: the EUROHAZCON study. Lancet 352:423–427PubMedCrossRefGoogle Scholar
  120. 120.
    Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG (2003) Omphalocele in trisomy 3q: further delineation of phenotype. Clin Genet 64:404–413PubMedCrossRefGoogle Scholar
  121. 121.
    Cinti R, Botta G, Asnaghi V, Del Monaco A, Salvego M, Silengo M (2000) De novo partial duplication of 3q and distal deletion of 20p in a 15-week abort us with omphalocele. Fetal Diagn Ther 15:61–62PubMedCrossRefGoogle Scholar
  122. 122.
    Beattie RB, Manson IW, Whittle MJ (1993) Identical twins with trisomy 21 discordant for exomphalos. Prenat Diagn 13:1067–1070PubMedCrossRefGoogle Scholar
  123. 123.
    Torfs CP, Honoré LH, Curry CJ (1997) Is there an association of Down syndrome and omphalocele? Am J Med Genet 73:400–403PubMedCrossRefGoogle Scholar
  124. 124.
    Hoyme HE, Higginbottom MC, Jones KL (1981) The vascular pathogenesis of gastroschisis: intrauternine interruption of the omphalomesenteric artery. J Pediatr 98:228–231PubMedCrossRefGoogle Scholar
  125. 125.
    Norman AM, Read AP, Clayton-Smith J, Andrews T, Donnai D (1992) Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5). Am J Med Genet 42:638–641PubMedCrossRefGoogle Scholar
  126. 126.
    Schmidt AI, Glüer S, Mühlhaus K, Ure BM (2005) Family cases of gastroschisis. J Pediatr Surg 40:740–741PubMedCrossRefGoogle Scholar
  127. 127.
    Chun K, Andrews HG, White JJ (1993) Gastroschisis in successive siblings: further evidence of an acquired etiology. J Pediatr Surg 28:838–839PubMedCrossRefGoogle Scholar
  128. 128.
    Reece A, Thornton J, Stringer MD (1997) Genetic factors in the aetiology of gastroschisis: a case report. Eur J Obstet Gynecol Reprod Biol 73:127–128PubMedCrossRefGoogle Scholar
  129. 129.
    Bugge M, Petersen MB, Christensen MF (1994) Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet 52:223–226PubMedCrossRefGoogle Scholar
  130. 130.
    Torfs CP, Curry CJ (1993) Familial cases of gastroschisis in a population-based registry. Am J Med Genet 45:465–467PubMedCrossRefGoogle Scholar
  131. 131.
    Siega-Riz AM, Olshan AF, Werler MM, Moore C (2006) Fat intake and the risk of gastroschisis. Birth Defects Res A Clin Mol Teratol 76:241–245PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Department of Surgery, Children’s Hospital of MichiganWayne State UniversityDetroitUSA

Personalised recommendations