- Courtney D Stephenson, DO
Courtney D Stephenson, DO
- Director, Charlotte Fetal Care Center
- Associate Director of Maternal-Fetal Medicine
- Carolinas Medical Center
- Clinical Professor, University of North Carolina
- Charles J Lockwood, MD, MHCM
Charles J Lockwood, MD, MHCM
- Section Editor — Obstetrics
- Senior Vice President, USF Health
- Dean, Morsani College of Medicine
- Professor, Obstetrics and Gynecology
- University of South Florida
- Andrew P MacKenzie, MD
Andrew P MacKenzie, MD
- Assistant Professor of Obstetrics and Gynecology
- University of Connecticut
- Director of Maternal Fetal Medicine
- St Francis Hospital and Medical Center
- Section Editors
- Louise Wilkins-Haug, MD, PhD
Louise Wilkins-Haug, MD, PhD
- Section Editor — Prenatal Diagnosis and Genetics
- Professor of Obstetrics, Gynecology, and Reproductive Biology
- Harvard Medical School
- Deborah Levine, MD
Deborah Levine, MD
- Section Editor — Imaging
- Professor of Radiology
- Director of Ob/Gyn Ultrasound
- Department of Radiology
- Beth Israel Deaconess Medical Center
An omphalocele is a midline abdominal wall defect of variable size, covered by a membrane of amnion and peritoneum with Wharton’s jelly between the two layers, and containing abdominal contents. The defect occurs at the base of the umbilical cord, with the cord/umbilical vessels inserting at the apex of the omphalocele sac (picture 1).
Fetal abdominal wall defects result from disturbances in organogenesis during the embryonic period. During the fourth to fifth week of development, the flat embryonic disk folds in four directions and/or planes: cephalic, caudal, and right and left lateral. Each fold converges at the site of the umbilicus, thus obliterating the extraembryonic coelom. The lateral folds form the lateral portions of the abdominal wall, and the cephalic and caudal folds make up the epigastrium and hypogastrium [1,2]. Rapid growth of the intestines and liver also occurs at this time. During the sixth week of development (or eight weeks from the last menstrual period), the abdominal cavity temporarily becomes too small to accommodate all of its contents, resulting in protrusion of the intestines into the residual extraembryonic coelom at the base of the umbilical cord. This temporary herniation is called physiologic midgut herniation and is sonographically evident the 9th to 11th postmenstrual weeks (up to crown rump length 45 mm) (image 1). Reduction of the hernia occurs by the 12th postmenstrual week; thus beyond the 12th week a midgut herniation is no longer physiological .
If the extraembryonic gut fails to return to the abdominal cavity, a simple midline omphalocele develops covered by the two-layer amnionic-peritoneal membrane, into which the umbilical cord inserts [1,2,4].
In contrast to fetal bowel, the liver does not undergo physiologic migration outside of the abdominal cavity during development. Therefore, the liver is never present in physiologic midgut herniation. If the lateral folds fail to close, a large abdominal wall defect is created through which the abdominal cavity contents, including the liver, can herniate [1,2]. The result is a liver-containing omphalocele.
Omphaloceles are associated with a high frequency of fetal aneuploidy when they contain only small bowel (ie, the liver is intracorporeal) [5-7]. An extracorporeal liver often, but not invariably, is associated with a normal fetal karyotype [7,8]. (See 'Associated abnormalities and syndromes' below.)
- Duhamel B. Embryology of Exomphalos and Allied Malformations. Arch Dis Child 1963; 38:142.
- HUTCHIN P. SOMATIC ANOMALIES OF THE UMBILICUS AND ANTERIOR ABDOMINAL WALL. Surg Gynecol Obstet 1965; 120:1075.
- Cyr DR, Mack LA, Schoenecker SA, et al. Bowel migration in the normal fetus: US detection. Radiology 1986; 161:119.
- Margulis L. Omphalocele (amnicele). Am J Obstet Gynecol 1945; 49:695.
- Duhamel B. Embryology of Exomphalos and Allied Malformations. Arch Dis Child 1963; 38:142.
- Sermer M, Benzie RJ, Pitson L, et al. Prenatal diagnosis and management of congenital defects of the anterior abdominal wall. Am J Obstet Gynecol 1987; 156:308.
- Nyberg DA, Fitzsimmons J, Mack LA, et al. Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents. J Ultrasound Med 1989; 8:299.
- Benacerraf BR, Saltzman DH, Estroff JA, Frigoletto FD Jr. Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. Obstet Gynecol 1990; 75:317.
- http://www.eurocat-network.eu (Accessed on August 12, 2014).
- Kirby RS, Marshall J, Tanner JP, et al. Prevalence and correlates of gastroschisis in 15 states, 1995 to 2005. Obstet Gynecol 2013; 122:275.
- Byron-Scott R, Haan E, Chan A, et al. A population-based study of abdominal wall defects in South Australia and Western Australia. Paediatr Perinat Epidemiol 1998; 12:136.
- Marshall J, Salemi JL, Tanner JP, et al. Prevalence, Correlates, and Outcomes of Omphalocele in the United States, 1995-2005. Obstet Gynecol 2015; 126:284.
- Waller DK, Shaw GM, Rasmussen SA, et al. Prepregnancy obesity as a risk factor for structural birth defects. Arch Pediatr Adolesc Med 2007; 161:745.
- Alwan S, Reefhuis J, Rasmussen SA, et al. Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects. N Engl J Med 2007; 356:2684.
- Bair JH, Russ PD, Pretorius DH, et al. Fetal omphalocele and gastroschisis: a review of 24 cases. AJR Am J Roentgenol 1986; 147:1047.
- Rossi AC, Prefumo F. Accuracy of ultrasonography at 11-14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol 2013; 122:1160.
- Kleinrouweler CE, Kuijper CF, van Zalen-Sprock MM, et al. Characteristics and outcome and the omphalocele circumference/abdominal circumference ratio in prenatally diagnosed fetal omphalocele. Fetal Diagn Ther 2011; 30:60.
- Danzer E, Gerdes M, D'Agostino JA, et al. Prospective, interdisciplinary follow-up of children with prenatally diagnosed giant omphalocele: short-term neurodevelopmental outcome. J Pediatr Surg 2010; 45:718.
- van Zalen-Sprock RM, Vugt JM, van Geijn HP. First-trimester sonography of physiological midgut herniation and early diagnosis of omphalocele. Prenat Diagn 1997; 17:511.
- Khoury MJ, Erickson JD, Cordero JF, McCarthy BJ. Congenital malformations and intrauterine growth retardation: a population study. Pediatrics 1988; 82:83.
- Romero R, et al. Omphalocele. In: Prenatal diagnosis of congenital anomalies, Romero R, et al (Eds), Appleton & Lange, Norwalk 1998. p.220.
- Curtis JA, Watson L. Sonographic diagnosis of omphalocele in the first trimester of fetal gestation. J Ultrasound Med 1988; 7:97.
- Brown DL, Emerson DS, Shulman LP, Carson SA. Sonographic diagnosis of omphalocele during 10th week of gestation. AJR Am J Roentgenol 1989; 153:825.
- Gray DL, Martin CM, Crane JP. Differential diagnosis of first trimester ventral wall defect. J Ultrasound Med 1989; 8:255.
- Pagliano M, Mossetti M, Ragno P. Echographic diagnosis of omphalocele in the first trimester of pregnancy. J Clin Ultrasound 1990; 18:658.
- Saller DN Jr, Canick JA, Palomaki GE, et al. Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects. Obstet Gynecol 1994; 84:852.
- Morrow RJ, Whittle MJ, McNay MB, et al. Prenatal diagnosis and management of anterior abdominal wall defects in the west of Scotland. Prenat Diagn 1993; 13:111.
- Chen CP. Chromosomal abnormalities associated with omphalocele. Taiwan J Obstet Gynecol 2007; 46:1.
- Lakasing L, Cicero S, Davenport M, et al. Current outcome of antenatally diagnosed exomphalos: an 11 year review. J Pediatr Surg 2006; 41:1403.
- Brantberg A, Blaas HG, Haugen SE, Eik-Nes SH. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynecol 2005; 26:527.
- Cohen-Overbeek TE, Tong WH, Hatzmann TR, et al. Omphalocele: comparison of outcome following prenatal or postnatal diagnosis. Ultrasound Obstet Gynecol 2010; 36:687.
- Porter A, Benson CB, Hawley P, Wilkins-Haug L. Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele. Prenat Diagn 2009; 29:668.
- Bianchi DW, Crombleholme TM, D'Alton ME. Omphalocele. In: Fetology, McGraw Hill, New York 2000. p.483.
- Corey KM, Hornik CP, Laughon MM, et al. Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele. Early Hum Dev 2014; 90:421.
- Mayer T, Black R, Matlak ME, Johnson DG. Gastroschisis and omphalocele. An eight-year review. Ann Surg 1980; 192:783.
- Henrich K, Huemmer HP, Reingruber B, Weber PG. Gastroschisis and omphalocele: treatments and long-term outcomes. Pediatr Surg Int 2008; 24:167.
- Ardinger HH, Williamson RA, Grant S. Association of neural tube defects with omphalocele in chromosomally normal fetuses. Am J Med Genet 1987; 27:135.
- Fogel M, Copel JA, Cullen MT, et al. Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis. Am J Perinatol 1991; 8:411.
- Crawford DC, Chapman MG, Allan LD. Echocardiography in the investigation of anterior abdominal wall defects in the fetus. Br J Obstet Gynaecol 1985; 92:1034.
- Tulloh RM, Tansey SP, Parashar K, et al. Echocardiographic screening in neonates undergoing surgery for selected gastrointestinal malformations. Arch Dis Child Fetal Neonatal Ed 1994; 70:F206.
- Kasznica J, Maldonado NM. Umbilical cord hernia, single umbilical artery, and lung hypoplasia in Ullrich-Turner syndrome. Am J Med Genet 1995; 57:496.
- Ranzini AC, Day-Salvatore D, Turner T, et al. Intrauterine growth and ultrasound findings in fetuses with Beckwith-Wiedemann syndrome. Obstet Gynecol 1997; 89:538.
- Saller DN Jr, Dailey JV, Doyle DL, et al. Turner syndrome associated with an omphalocele. Prenat Diagn 1993; 13:424.
- Stoll C, Alembik Y, Dott B, Roth MP. Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265,858 consecutive births. Ann Genet 2001; 44:201.
- Vasudevan PC, Cohen MC, Whitby EH, et al. The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature. Prenat Diagn 2006; 26:267.
- Nakagawa M, Hara M, Shibamoto Y. MRI findings in fetuses with an abdominal wall defect: gastroschisis, omphalocele, and cloacal exstrophy. Jpn J Radiol 2013; 31:153.
- American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013; 122:1374.
- Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012; 32:986.
- Deng K, Qiu J, Dai L, et al. Perinatal mortality in pregnancies with omphalocele: data from the Chinese national birth defects monitoring network, 1996-2006. BMC Pediatr 2014; 14:160.
- Nicholas SS, Stamilio DM, Dicke JM, et al. Predicting adverse neonatal outcomes in fetuses with abdominal wall defects using prenatal risk factors. Am J Obstet Gynecol 2009; 201:383.e1.
- Hidaka N, Murata M, Yumoto Y, et al. Characteristics and perinatal course of prenatally diagnosed fetal abdominal wall defects managed in a tertiary center in Japan. J Obstet Gynaecol Res 2009; 35:40.
- Juhasz-Böss I, Goelz R, Solomayer EF, et al. Fetal and neonatal outcome in patients with anterior abdominal wall defects (gastroschisis and omphalocele). J Perinat Med 2011; 40:85.
- Siemer J, Hilbert A, Hart N, et al. Specific weight formula for fetuses with abdominal wall defects. Ultrasound Obstet Gynecol 2008; 31:397.
- Chaudhury P, Haeri S, Horton AL, et al. Ultrasound prediction of birthweight and growth restriction in fetal gastroschisis. Am J Obstet Gynecol 2010; 203:395.e1.
- Nicholas S, Tuuli MG, Dicke J, et al. Estimation of fetal weight in fetuses with abdominal wall defects: comparison of 2 recent sonographic formulas to the Hadlock formula. J Ultrasound Med 2010; 29:1069.
- Fawley JA, Peterson EL, Christensen MA, et al. Can omphalocele ratio predict postnatal outcomes? J Pediatr Surg 2016; 51:62.
- Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome. Pediatrics 1972; 50:778.
- van Hoorn JH, Moonen RM, Huysentruyt CJ, et al. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008; 167:29.
- Kitchanan S, Patole SK, Muller R, Whitehall JS. Neonatal outcome of gastroschisis and exomphalos: a 10-year review. J Paediatr Child Health 2000; 36:428.
- Carpenter MW, Curci MR, Dibbins AW, Haddow JE. Perinatal management of ventral wall defects. Obstet Gynecol 1984; 64:646.
- How HY, Harris BJ, Pietrantoni M, et al. Is vaginal delivery preferable to elective cesarean delivery in fetuses with a known ventral wall defect? Am J Obstet Gynecol 2000; 182:1527.
- Moretti M, Khoury A, Rodriquez J, et al. The effect of mode of delivery on the perinatal outcome in fetuses with abdominal wall defects. Am J Obstet Gynecol 1990; 163:833.
- Lewis DF, Towers CV, Garite TJ, et al. Fetal gastroschisis and omphalocele: is cesarean section the best mode of delivery? Am J Obstet Gynecol 1990; 163:773.
- Segel SY, Marder SJ, Parry S, Macones GA. Fetal abdominal wall defects and mode of delivery: a systematic review. Obstet Gynecol 2001; 98:867.
- Biard JM, Wilson RD, Johnson MP, et al. Prenatally diagnosed giant omphaloceles: short- and long-term outcomes. Prenat Diagn 2004; 24:434.
- Townsend. Abdomen. In: Sabiston Textbook of Surgery, 16th ed, WB Saunders Co, Philadelphia 2001. p.1478.
- Pacilli M, Spitz L, Kiely EM, et al. Staged repair of giant omphalocele in the neonatal period. J Pediatr Surg 2005; 40:785.
- Poznanski AK. Fetal omphalocele: prenatal US detection of concurrent anomalies and other predictors of outcome. Radiology 1990; 177:883.
- Hughes MD, Nyberg DA, Mack LA, Pretorius DH. Fetal omphalocele: prenatal US detection of concurrent anomalies and other predictors of outcome. Radiology 1989; 173:371.
- Heider AL, Strauss RA, Kuller JA. Omphalocele: clinical outcomes in cases with normal karyotypes. Am J Obstet Gynecol 2004; 190:135.
- van Eijck FC, Hoogeveen YL, van Weel C, et al. Minor and giant omphalocele: long-term outcomes and quality of life. J Pediatr Surg 2009; 44:1355.
- Mitanchez D, Walter-Nicolet E, Humblot A, et al. Neonatal care in patients with giant ompholocele: arduous management but favorable outcomes. J Pediatr Surg 2010; 45:1727.
- Tassin M, Descriaud C, Elie C, et al. Omphalocele in the first trimester: prediction of perinatal outcome. Prenat Diagn 2013; 33:497.
- Partridge EA, Hanna BD, Panitch HB, et al. Pulmonary hypertension in giant omphalocele infants. J Pediatr Surg 2014; 49:1767.
- Romero R. Prenatal Diagnosis of Congenital Anomalies, Appleton and Lange, East Norwalk CT 1988. p.220.
- INCIDENCE AND EPIDEMIOLOGY
- PRENATAL DIAGNOSIS
- Associated abnormalities and syndromes
- Diagnostic images
- Differential diagnosis
- OBSTETRICAL MANAGEMENT
- Initial evaluation
- Follow-up obstetrical care
- Prenatal prognostic factors
- Timing and route of delivery
- APPROACH TO THE NEONATE
- Delivery room
- Synopsis of surgical management
- RISK OF RECURRENCE IN FUTURE PREGNANCY
- SUMMARY AND RECOMMENDATIONS