Children's Hospital Colorado


An omphalocele is a rare abdominal wall defect in which a baby's intestines, and occasionally the liver or other organs, remain outside of the abdomen. This is caused by a defect in the development of the muscles of the abdominal wall. It can vary in size, from a few centimeters to most of the abdominal wall.

Receiving the news that your baby has an omphalocele can feel scary and overwhelming. Yet the Colorado Fetal Care Center is at the forefront of diagnosing and treating this condition. We also perform state-of-the-art surgeries that enable babies to live healthy, full lives.

For patients

An omphalocele is a birth defect where abdominal organs protrude from the belly and lie exposed outside the abdomen. The organs, usually the intestines and liver, are covered in a thin sac. Associated abnormalities can include a smaller-than-normal abdominal cavity or lungs, organ damage or infection (especially if the sac holding the intestines ruptures).

The abdominal wall with an omphalocele fails to develop properly, leaving the abdominal contents covered by a thin membrane. The size and severity of this condition ranges from small, with only part of the intestines protruding, to large, with entire and multiple organs remaining outside of the abdomen.

The incidence of omphalocele ranges from approximately 1 in 4,000 to 1 in 7,000 live births. There is an increased risk of stillbirth in babies with this condition, which is why we strive for early diagnosis and observation.

What causes omphalocele?

The defect is thought to be caused by an abnormality that occurs during the process of body infolding in the embryo at 3 to 4 weeks of pregnancy. While no specific cause is known, omphalocele has been associated with advanced maternal age.

Studies also show that several factors can increase the likelihood of having a baby with omphalocele. Women who are obese or overweight prior to pregnancy are more likely to have a baby with omphalocele, as are women who drink alcohol, smoke cigarettes or take certain kinds of anti-depressants during pregnancy.

Complications of omphalocele

Omphalocele can present as part of a syndrome (meaning multiple organ structures are involved) or as an isolated defect (meaning without other abnormalities). Small abdominal wall defects that contain only bowel are associated with an increased risk of chromosomal abnormalities (considered to be the baby's "blueprint").

Other organ abnormalities vary greatly, ranging from single minor abnormalities that are not life-threatening for the baby to multiple complex life-threatening abnormalities that influence long-term prognosis more than the omphalocele itself. Genetic testing is strongly recommended due to the multiple studies that have documented a high rate of chromosomal abnormalities.

Omphalocele is often detected from a routine prenatal ultrasound. The condition can also trigger abnormal results on prenatal blood screening tests. If not discovered during pregnancy, it becomes obvious when the baby is born.

Babies born with omphalocele can be treated in a number of ways depending on the size of the defect, associated abnormalities and gestational age at delivery. We have found that a team approach is best for families who’ve received this diagnosis. We offer comprehensive counseling and advice for parents with a fetus diagnosed with this anomaly. In addition to maternal and fetal medicine specialists, the parents will be able to meet with specialists in pediatric surgery, genetics, neonatology and pediatric cardiology.

What is the impact of this diagnosis on my pregnancy?

After receiving an omphalocele diagnosis, some patients might decide to terminate their pregnancy. After a decision has been reached regarding the continuation of the pregnancy, our team will then focus on detecting preterm labor and intrauterine growth restriction (a condition where the baby is not growing enough while in the uterus). Both of these complications are frequently associated with omphalocele.

There will be many more ultrasounds performed in a pregnancy complicated by omphalocele to assess the baby’s growth and the amount of amniotic fluid. In addition, during ultrasound assessment, we observe for occasional rupture of the omphalocele membrane which can expose the herniated intestines to amniotic fluid. The goal with omphalocele is to deliver the baby as close to term as possible.

C-sections are only recommended for specific cases, usually when the defect in the fetal abdomen measures 5 cm or greater or if the liver is entirely outside the body.

Omphalocele treatment plans depend on the number of organs involved and how much of those organs remain outside of the belly at birth. If only parts of the intestines are protruding, surgeons return them to the abdomen soon after birth and close the opening in the abdominal wall. If the omphalocele is large with multiple organs exposed, or there are associated respiratory problems, physicians usually take a phased approach. In the most severe cases, doctors will take time to allow the body to grow skin over the membrane. Ace wraps can then be used to develop space to accommodate the organs, with repair of the defect occurring at 1-2 years of age. Currently, there are no fetal (in utero) interventions offered to treat omphalocele.

Long-term outcomes for babies with omphalocele

Modern surgical advances have made life not only possible, but also probable, for children born with this birth defect. The omphalocele survival rate for babies with no additional abnormalities is 90 percent. Those with other defects have a survival rate of 70 percent.

Babies with multiple organs exposed, as well as related abnormalities such as smaller-than-average lungs, can experience ongoing breathing and heart problems. These children require long-term care and monitoring from a multidisciplinary team of specialists.

Learn more about the Colorado Fetal Care Center, including our latest outcomes and how to find the right fetal care center for you.

For healthcare professionals

The diagnosis of omphalocele has been made as early as 10 to 12 weeks of gestation by trans-vaginal sonography, when an echogenic mass nearly equal to the size of the diameter of the fetal abdomen was found anterior to the fetal abdomen (Brown et al., 1989). The use of three-dimensional transvaginal ultrasound may facilitate this early gestation diagnosis (Anandakumer et al., 2002; Tonni et al., 2006). The ultrasonographic appearance of omphalocele varies depending on the size and location of the defect, the presence of ascites and the organs contained within the defect. However, a principal diagnostic feature of omphalocele is the umbilical cord insertion into the membrane covering the abdominal wall defect. This contrasts with gastroschisis, in which the defect is immediately to the right of the normal umbilical cord insertion into the abdominal wall.

The cord insertion site at the caudal apical portion of the omphalocele membrane can be visualized with color flow Doppler studies on sagittal or oblique images. An additional diagnostic feature is the presence of the intrahepatic portion of the umbilical vein coursing through the central portion of the defect. Omphaloceles are characterized in utero by the presence of a membrane; however, occasionally this membrane will rupture. In cases of ruptured omphalocele, the abdominal contents are floating free in the amniotic cavity, similar to gastroschisis. However, unlike gastroschisis, in ruptured omphaloceles, the defects are usually large and have at least exposed liver if not extracorporeal liver.

Elevated maternal serum α-fetoprotein (MSAFP) levels have traditionally been associated with open neural tube defects, but they are also associated with ventral abdominal wall defects (Brooke et al., 1979; Killam et al., 1991; Stiller et al., 1990). The sensitivity of MSAFP screening for the detection of abdominal wall defects will vary depending on whether it is omphalocele or gastroschisis and on the cutoff value of MSAFP used (Paidas et al., 1994). MSAFP screening has a much higher sensitivity for detecting gastroschisis than for detecting omphalocele. Palomaki et al. (1988) found that at each cutoff value of MSAFP, detection rates were higher for gastroschisis than for omphalocele. For example, at a cutoff value of >2.5 multiples of the median (MoM) and >3.0 MoM, the detection rates were more than 98 percent and 71 percent, and 96 percent and 65 percent for gastroschisis and omphalocele, respectively. The median MSAFP values for cases of omphalocele in this study were 4.1 MoM (Palomaki et al., 1988). The poorer detection rate for omphalocele is thought to be due to the presence of the intact amnioperitoneal membrane covering the abdominal cavities in unruptured omphalocele, as opposed to direct exposure of bowel to the amniotic fluid in gastroschisis (Paidas et al., 1994).

Once identified, a sonographic estimation of the size of the omphalocele, contents of the omphalocele sac, location of the umbilical cord insertion relative to the herniation and the presence of an amnioperitoneal membrane should be documented. A careful sonographic search for other fetal anomalies should also be performed, including fetal echocardiography. Chromosomal analysis is strongly recommended. We have found that a team approach provides comprehensive counseling and advice for parents with a fetus diagnosed with this anomaly. In addition to maternal and fetal medicine specialists, the parents should meet with specialists in pediatric surgery, genetics, neonatology and pediatric cardiology. This type of approach, coordinated by the maternal and fetal medicine specialists, affords the parents the opportunity to ask questions regarding postnatal surgery, postoperative care and long-term outcomes. If chromosomal abnormalities, associated anomalies or a particular syndrome is suspected, these issues can be further discussed in detail. After a decision has been reached regarding continuation of the pregnancy, attention is then focused on antepartum surveillance for the development of preterm labor and intrauterine growth restriction. Both of these complications are frequently associated with omphalocele. Rates for preterm delivery range from 26 to 65 percent and for intrauterine growth restriction from 6 to 35 percent (Carpenter et al., 1984; Lafferty et al., 1989; Sermer et al., 1987; Sipes et al., 1990a, 1990b). There is also a high rate of emergency cesarean delivery because of fetal distress (Molenaar and Tibboel, 1993; Moretti et al., 1990). Because of the high incidence of intrauterine growth restriction, we perform serial ultrasound examinations to assess fetal growth and amniotic fluid volume. In addition, during ultrasound assessment we observe for occasional rupture of the omphalocele membrane, which exposes the herniated intestines to amniotic fluid.

In up to 50 percent of cases, significant pulmonary hypoplasia and pulmonary hypertension may complicate the neonatal course, particularly in giant omphaloceles (Lee et al., 2006; Tsakayannis et al., 1996). We routinely recommend MRI total lung volume assessment at 32 to 34 weeks’ gestation to help identify fetuses at risk for these complications which, if present, become the overriding determinant of management in omphalocele. The site and mode of delivery have been debated in the obstetric literature (Lewis et al., 1990; Segel et al., 2001; Lurie et al., 1999). The goal of the management of fetuses with omphalocele is to deliver the fetus as close to term as possible. Delivery at a tertiary care center provides optimal immediate care for the newborn (Geijn et al., 1991; Hsieh et al., 1989; Lafferty et al., 1989; Lewis et al., 1990). In addition, transporting the pregnant woman before delivery, rather than transporting the neonate after delivery, provides immediate neonatal surgical care and eliminates the risk of transporting a critically ill newborn.

Mode of delivery — vaginally or by cesarean — has been the subject of several retrospective reviews. No results from available prospective randomized trials have settled this issue. Older literature advocated the use of cesarean section (Cameron et al., 1978). However, the most recent retrospective reviews do not support the idea that cesarean delivery is associated with an improved survival rate (Kirk et al., 1995; Lurie et al., 1999; Segel et al., 2001; Sermer et al., 1987; Sipes et al., 1990; Moretti et al., 1990). None of the six reported series show any benefit to cesarean delivery. The outcome of giant omphaloceles was not specifically addressed in these studies. Several other authors do not support routine cesarean delivery for fetuses with omphalocele (Carpenter et al., 1984; Lewis et al., 1990; Hasan and Hermansen, 1986; How et al., 2000; Hsieh et al., 1989; Lafferty et al., 1989). Labor itself does not seem to adversely affect outcomes, based on the study by Lewis et al. (1990), who compared outcome data from infants delivered via elective cesarean section with those whose delivery was preceded by labor. In cases of small omphaloceles, we currently recommend vaginal delivery and reserve cesarean delivery for routine obstetric indications. However, in isolated cases of giant omphalocele with a defect in the fetal abdomen measuring 5 cm or greater by ultrasound examination, cesarean delivery may be necessary to avoid dystocia. Particularly in cases of extracorporeal liver, we recommend delivering by cesarean section. This approach underscores the need for reevaluation of the defect as pregnancy progresses.

Omphalocele treatment for newborns is a staged approach. Delivery should occur in a tertiary care center, with neonatologists available for immediate resuscitation. Initial treatment consists of airway stabilization and sterile wrapping of the abdominal defect to preserve heat and minimize insensible fluid loss.

A complete physical examination should be performed to rule out a syndromic diagnosis. Peripheral vascular access should be established and intravenous fluids given. Mechanical ventilation is frequently necessary, especially postoperatively, when abdominal content replaced into a small abdominal cavity impede diaphragmatic occlusion and lung expansion. Antibiotics are generally given postoperatively. Initial treatment of the newborn is directed toward preoperative stabilization. Significant pulmonary hypoplasia and associated pulmonary hypertension may complicate the neonatal management of omphalocele from the delivery room on. This may be the most challenging management feature of up to 50 percent of neonates with giant omphaloceles.

Omphalocele can present as part of a syndrome or as an isolated defect. The most important prognostic variable is the presence of associated malformations or chromosomal abnormalities. Visceral malformations can accompany omphalocele in 50 to 70 percent of the cases and chromosomal abnormalities can be seen in 30 to 69 percent (Paidas et al., 1994; Brantberg et al., 2005; Lakasing et al., 2006). Interestingly, the absence of the liver in the omphalocele has been correlated with fetal karyotypic abnormalities and perinatal mortality. Nyberg and colleagues (1989) were the first to report an association between omphalocele contents and fetal chromosomal abnormalities. Other investigators have validated the finding that small defects in omphalocele that contain only bowel are associated with an increased risk of chromosomal abnormalities (Benacerraf et al., 1990; Getachew et al., 1991). In one study, chromosomal abnormalities were present in all 8 fetuses with intracorporeal liver, as opposed to 2 of the 18 fetuses with an extracorporeal liver. They also found a significant association between advanced maternal age (33 years and older) and abnormal karyotype. Gilbert and Nicolaides (1987) found that in a series of 35 fetuses, there was a high rate of chromosomal abnormalities (54 percent) with a predominance of trisomy 18 (17 of 19 cases of chromosomal abnormalities). They also demonstrated a high male:female ratio (3:1). This is in contrast to gastroschisis, in which the male:female ratio is 1:1 in the majority of studies (Salinas et al., 1979). Brantberg et al. found a higher incidence of karyotypic abnormalities when the omphalocele was central (69 percent) as opposed to epigastric (12.5 percent) in location (Brantberg et al., 2005). 

The constellation of other associated malformations varies greatly, ranging from single, minor, nonlethal abnormalities to multiple complex life-threatening abnormalities that influence long-term prognosis more than the omphalocele itself. The pediatric literature (as opposed to the obstetric literature) has reported a better prognosis for neonates with omphalocele, due to the fact that many of the fetuses with multiple associated anomalies die in utero or during the immediate perinatal period. The report from Rijhwani et al. from King’s College Hospital is illustrative of this point with survival of 34 of 35 neonates undergoing primary or staged closure (Rijhwani et al., 2005). The same institution reported that fewer than 10 percent of the 445 prenatally diagnosed cases of omphalocele survived to repair (Lakasing et al., 2006). 

Several investigators have described the impact of associated anomalies on survival in cases of omphalocele. Hughes et al. (1989) reviewed a series of 46 cases detected by prenatal ultrasound examination from three high-risk obstetric referral centers. In 43 of 46 cases, adequate follow-up information was available. Twenty-nine of the 43 cases (67 percent) had additional malformations, with 23 (79 percent) considered major and 6 (21 percent) considered minor. Three of the 29 pregnancies were terminated. There was a total of 58 individual anomalies in the 26 fetuses in which the pregnancy was continued. Cardiac anomalies were the most common (14 cases), including ectopia cordis (4). The other systems involved were skeletal (9), gastrointestinal (6), genitourinary (6) and central nervous (7). Fetal mortality was most strongly associated with the presence of concurrent malformations. Twelve of the 15 fetuses (80 percent) with concurrent malformations died, and the 3 that survived had isolated minor abnormalities. This was in contrast to 7 fetuses without additional anomalies who survived. In the series from Hughes et al., the size of the omphalocele was not associated with fetal mortality. Six of the 10 survivors had a transverse omphalocele:abdomen ratio of >0.6 and 2 omphaloceles measured more than 10 cm. Abnormal amniotic fluid volume was present in 9 of the 12 fetuses that died spontaneously and 3 of these had no abnormalities detected on sonographic examination. 

Tucci and Bard (1990) reviewed a 5-year Canadian experience consisting of 28 cases of omphalocele. They initially divided their cases into 2 groups on the basis of the size of the defect, small (<5 cm) and giant (>5 cm). Of the 12 fetuses with small omphaloceles, only 1 died whereas 10 of the 16 infants with giant omphalocele died and all except 1 had severe associated anomalies. There were 5 cases of congenital heart disease, 3 diaphragmatic hernias and 2 central nervous system malformations. Of note, none of the 6 surviving infants had associated severe malformations. In this series, 4 of the survivors had liver herniation, which suggests that giant omphaloceles can have a favorable prognosis if other severe anomalies are not present. 

Nicolaides et al. (1992) compiled their 8-year experience with omphalocele and reviewed both the obstetric and pediatric literature regarding the presence of chromosomal abnormalities and associated malformations. Of the 116 cases of omphaloceles, 87 (75 percent) had associated malformations. They also found a higher incidence of chromosomal abnormalities when the omphalocele contained only bowel as compared with omphaloceles that contained liver and bowel (25 of 44 vs. 17 of 72). In their summary, of 349 cases detected antenatally, 229 (65.6 percent) had associated malformations. Summarizing 13 studies with postnatal follow-up, an overall incidence of associated anomalies is 50 percent. They also noted an association with neural tube defects in chromosomally normal fetuses (Ardinger et al., 1987). 

Nicolaides’ group reported an 11-year experience from the Harris Birthright Centre for Fetal Research at King’s College Hospital with 445 cases of omphalocele (Lakasing et al., 2006). In 250 cases (56 percent) the karyotype was found to be abnormal and in 130 cases (30 percent) the karyotype was normal with the remainder declining karyotype analysis. In the group with karyotype abnormalities, 248 (99 percent) underwent termination of pregnancy or died in utero. Among the 130 cases with normal karyotype, 74 (56 percent) were found to have associated structural anomalies. Because of the high incidence of associated congenital cardiac disease (19 to 32 percent), we recommend fetal echocardiography when an omphalocele is diagnosed (Carpenter et al., 1984; Copel et al., 1986; Crawford et al., 1985; Greenwood et al., 1974). The incidence of congenital heart disease is related to the embryology of the body-fold defect. Ten percent of neonates with lateral-fold defects have congenital heart disease, whereas the incidence approaches 100 percent if the cephalic fold is affected. Alternatively, if the caudal fold is involved, the incidence of associated congenital heart disease is low (Carpenter et al., 1984; Copel et al., 1986; Crawford et al., 1985; Greenwood et al., 1974).

Aaronson IA, Eckstein HB. The role of Silastic prosthesis in the management of gastroschisis. Arch Surg 1977;112:297–302.

Adam AS, Corbally MT, Fitzgerald RJ. Evaluation of conservative therapy for exomphalos. Surg Gynecol Obstet 1991;172:394-396.

Allen RG, Wrenn EL. Silon as a sac in the treatment of omphalocele and gastroschisis. J Pediatr Surg 1969;4:3–8.

Ardinger HH, Williamson RA, Gant S. Association of neural tube defects with omphalocele in chromosomally normal fetuses. Am J Med Genet 1987;27:135–142.

Argyle JC. Pulmonary hypoplasia in infants with giant abdominal wall defects. Pediatr Pathol 1989;9:43–55.

Baird PA, MacDonald EC. An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. Am J Hum Genet 1981;33:470–478.

Benacerraf BR, Saltzman DH, Estroff JA, et al. Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. Obstet Gynecol 1990;75:317.

Bianchi DW, Crombleholme TM, D’Alton ME, Malone FA,  second edition - Fetology: Diagnosis and Management of the Fetal Patient McGraw Hill, New York, NY. 2010

Brantberg A, Blaas HG, Haugen SE, et al. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound  Obstet Gynecol 2005;26:527-537.

Brooke DJ, Banon L, Duncan P, et al. Significance of elevated mid-trimester maternal plasma AFP values. Lancet 1979;1:1281–1282.

Brown DL, Emerson DS, Schulman LP, Carson SA. Sonographic diagnosis of omphalocele during 10th week of gestation. AJR Am J Roentgenol 1989;153:825–826.

Bryker CR, Breg WR. Pentalogy of Cantrell. In: Buyse ML, ed. Birth defects encyclopedia. Cambridge, MA: Blackwell Scientific, 1990:1375–1377.

Cameron G, McQuown DS, Modanlou HD, et al. Intrauterine diagnosis of an omphalocele by diagnostic ultrasound. Am J Obstet Gynecol 1978;131:821–823.

Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 1958;107:602.

Canty TG, Collins DL. Primary fascial closure in infants with gastroschisis and omphalocele: a superior approach. J Pediatr Surg 1983;18:707.

Carpenter MW, Curci MR, Dibbins AW, et al. Perinatal management of ventral wall defects. Obstet Gynecol 1984;64:646.

Cohen MM, Ulstrom R. Beckwith-Wiedemann syndrome. In: Bergsma G, ed. Birth defects compendium. 2nd ed. New York: Liss, 1979:140–144.

Copel JA, Pilu G, Kleinman CS. Congenital heart disease and extracardiac anomalies: associations and indications for fetal echocardiography. Am J Obstet Gynecol 1986;154:1121–1132.

Craigo SD, Gillieson MS, Cetrulo CL. Pentalogy of Cantrell. In: Department of Radiology Staff, eds. The fetus. Vol. 2, Nashville: Vanderbilt University, 1992:3.

Crawford DC, Chapman MG, Allan LD. Echocardiography in the investigation of anterior abdominal wall defects in the fetus. Br J Obstet Gynaecol 1985;92:1034–1036.

deVries PA. The pathogenesis of gastroschisis and omphalocele. J Pediatr Surg 1980;15:245–249.

DiLiberti JH. Familial omphalocele: analysis of risk factors and case report. Am J Med Genet 1982;13:263–268.

Dimmick JE, Kalousek DE, eds. Developmental pathology of the embryo and fetus. Philadelphia: Lippincott, 1992:527–529.

Duhamel B. Embryology of exomphalos and allied malformations. Arch Dis Child 1963;38:142.

Ein SH, Bernstein A. A 24-year follow-up of a large omphalocele: from silon pouch to pregnancy. J Pediatr Surg 1990;25:1190–1193.

Geijn EJ, Vugt JMG, Sollie JE. Ultrasonographic diagnosis and perinatal management of fetal abdominal wall defects. Fetal Diagn Ther 1991;6:2–10.

Getachew MM, Goldstein RB, Edge V, et al. Correlation between omphalocele contents and karyotypic abnormalities: sonographic study in 37 cases. AJR Am J Roentgenol 1991;158:133–136.

Ghidini A, Sirtori M, Romero R, Hobbins JC. Prenatal diagnosis of pentalogy of Cantrell. J Ultrasound Med 1988;7:567.

Gilbert WM, Nicolaides KH. Fetal omphalocele: associated malformations and chromosomal defects. Obstet Gynecol 1987;70:633–635.

Ginn-Pease ME, King DR, Tarnowski KJ, et al. Psychosocial adjustment and physical growth in children with imperforate anus or abdominal wall defects. J Pediatr Surg 1991;26:1129–1135.

Greenwood RD, Rosenthal A, Nadas AS. Cardiovascular malformations associated with omphalocele. J Pediatr 1974;85:818–821.

Greenwood D, Sommer A, Rosenthal A, et al. Cardiovascular abnormalities in the Beckwith-Wiedemann syndrome. Am J Dis Child 1977;131:293.

Gross RE. A new method for surgical treatment of large omphaloceles. Surgery 1948;24:277–292.

Hasan S, Hermansen MC. The prenatal diagnosis of ventral abdominal wall defects. Am J Obstet Gynecol 1986;155:842–845.

Hatch EI, Baxter R. Surgical options in the management of large omphaloceles. Am J Surg 1987;153:449–453.

Hershenson MB, Brouillette RT, Klemka L, et al. Respiratory insufficiency in newborns with abdominal wall defects. J Pediatr Surg 1985;20:348–353.

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;182:1527-1534.

Hsieh TT, Lai YM, Liou JD, et al. Management of the fetus with an abdominal wall defect: experience of 31 cases. J Formosa Med Assoc 1989;88:469–473.

Hughes MD, Nyberg DA, Mack LA, et al. Fetal omphalocele: prenatal US detection of concurrent anomalies and other predictors of outcome. Radiology 1989;173:371–376.

Kaiser MM, Kahl F, von Schwabe C, et al. [German] Omphalocele and gastroschisis. Outcome—complications—follow-up—quality of life. Chirurg 2000;71:1256-1262.

Killam WP, Miller RC, Seeds JW. Extremely high maternal serum alpha-fetoprotein levels at second-trimester screening. Obstet Gynecol 1991;78:257–267.

Kirk EP, Wah RH: Obstetric management of the fetus with omphalocele or gastroschisis: a review and report of one hundred twelve cases. Am J Obstet Gynecol 1983;146:512–517.

Lafferty PM, Emmerson AJ, Fleming PJ, et al. Anterior abdominal wall defects. Arch Dis Child 1989;64:1029–1031.

Lakasing L, Cicero S, Davenport M, et al. Current outcome of antenatally diagnosed exomphalos: an 11-year review. J Pediatr Surg 2006;41:1403-1406.

Lee SL, Beyer TD, Kim SS, et al. Initial nonoperative management and delayed closure for treatment of giant omphaloceles. J Pediatr Surg 2006;41:1846-1849.

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;163:773–775.

Lindham S. Omphalocele and gastroschisis in Sweden 1965–1976. Acta Paediatr Scand 1981;70:55–60.

Loder RT, Guiboux JP. Musculoskeletal involvement in children with gastroschisis and omphalocele. J Pediatr Surg 1993;28:584–590.

Lurie S, Sherman D, Bukovsky I. Omphalocele delivery enigma: the best mode of delivery still remains dubious. Eur J Obstet Gynecol Reprod Biol 1999;82:19-22.

Mabogunje OA, Mahour GH. Omphalocele and gastroschisis – trends in survival across two decades. Am J Surg 1984;148:679–686.

McKeown T, McMahon B, Record RG. An investigation of 69 cases of exomphalos. Am J Hum Genet 1953;5:168–175.

Meller JL, Reyes HM, Loeff DS. Gastroschisis and omphalocele. Clin Perinatol 1989;16:113.

Molenaar JC, Tibboel D. Gastroschisis and omphalocele. World J Surg 1993;17:337–341.

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;163:833–838.

Nicolaides KH, Snijders RJM, Cheng HH, et al. Fetal gastro-intestinal and abdominal wall defect: associated malformations and chromosomal abnormalities. Fetal Diagn Ther 1992;7:102–115.

Nuchtern JG, Baxter R, Hatch EI Jr. Non-operative initial management versus silon chimney for treatment of giant omphalocele. J Pediatr Surg 1995;30:771-776.

Nyberg DA, Fitzsimmons J, Mack LA, et al. Chromosomal abnormalities in fetuses with omphalocele — significance of omphalocele contents. J Ultrasound Med 1989;8:299–308.

Osuna A, Lindham S. Four cases of omphalocele in two generations of the same family. Clin Genet 1976;9:354–356.

Othersen HB, Smith CD. Pneumatic reduction bag for treatment of gastroschisis and omphalocele. Ann Surg 1986;203:512–516.

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

Palomaki GE, Hill LE, Knight GJ, et al. Second trimester maternal serum screening alpha-fetoprotein levels in pregnancies associated with gastroschisis and omphalocele. Obstet Gynecol 1988;71:906–909.

Pryde PG, Greb A, Isada NB, et al. Familial omphalocele: considerations in genetic counseling. Am J Med Genet 1992;44:624–627.

Rankin J, Dillon E, Wright C. Congenital anterior abdominal wall defects in the north of England, 1986-1996: occurrence and outcome. Prenat Diagn 1999;19:662-668.

Redford RHA, McNay MB, Whittle MJ. Gastroschisis and exomphaloceles: precise diagnosis by mid-pregnancy ultrasound. Br J Obstet Gynaecol 1985;92:54–59.

Rijhwani A, Davenport M, Dawrant M, et al. Definitive surgical management of antenatally diagnosed exomphalos. J Pediatr Surg 2005;40:516-522.

Robin SZ, Ein SH. Experience with 55 silon pouches. J Pediatr Surg 1976;11:803–807.

Romero R, Pilu G, Jeanty P, et al. Omphalocele: prenatal diagnosis of congenital anomalies. Appleton & Lange, Norwalk, 1988:220–223.

Salinas CF, Bartoshesky L, Othersen HB, et al. Familial occurrence of gastroschisis. Am J Dis Child 1979;133:514–517.

Sauter ER, Falterman KW, Arensman RM. Is primary repair of gastroschisis and omphalocele always the best operation? Am Surg 1991;57:142–144.

Schuster SR. A new method for the staged repair of large omphaloceles. Surg Gynecol Obstet 1967;125:837–850.

Segel SY, Marder SJ, Parry S, et al. Fetal abdominal wall defects and mode of delivery: a systematic review. Obstet Gynecol 2001;98:867-873.

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;308–312.

Sipes SL, Weiner CP, Sipes DR, et al. Gastroschisis and omphalocele: does either antenatal diagnosis or route of delivery make a difference in perinatal outcome? Obstet Gynecol 1990a;76:195–199.

Sipes SL, Weiner CP, Williamson RA, et al. Fetal gastroschisis complicated by bowel dilation: an indication for imminent delivery? Fetal Diagn Ther 1990b;5:100–105.

Sotelo A. Neoplasms associated with Beckwith-Wiedemann syndrome. Perspect Pediatr Pathol 1977;3:255–259.

Spitz L, Bloom KR, Milner S, et al. Combined anterior abdominal wall, sternal, diaphragmatic, pericardial, and intracardiac defects: a report of 5 cases and their management. H Pediatr Surg 1975;10:491–496.

Stiller RJ, Haynes R, de Regt R, et al. Elevated maternal serum alpha-fetoprotein concentration and fetal chromosomal abnormalities. Obstet Gynecol 1990;75:994–999.

Stoll C, Alembik Y, Dott B, et al. Risk factors in congenital abdominal wall defects (omphalocele and gastroschisis); a study in a series of 265,858 consecutive births. Ann Genet 2001;44:201-208.

Stringel G, Filler RM. Prognostic factors in omphalocele and gastroschisis. J Pediatr Surg 1979;14:515-519.

Swartz KR, Harrison MW, Campbell JR, et al. Ventral hernia in the treatment of omphalocele and gastroschisis. Ann Surg 1985;3:347–350.

Tonni G, Centini G. Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus. Am J Perinatol 2006;23:67-69.

Towne BH, Peters G, Chang JHT. The problem of “giant” omphalocele. J Pediatr Surg 1980;15:543-548.

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;50:778–780.

Tsakayannis DE, Zurakowski D, Lillehei CW. Respiratory insufficiency at birth: a predictor of mortality for infants with omphalocele. J Pediatr Surg 1996;31:1088-90.

Tucci M, Bard H: The associated anomalies that determine prognosis in congenital omphaloceles. Am J Obstet Gynecol 1990;13:1646–1649.

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;26:267-72.

Related departments

Children's Colorado in the news


Baby to Go Home After Nearly a Year in the NICU

April 6, 2017

Evelyn Steppig was born with omphalocele, a birth defect of the abdominal wall, and spent the first eight months of her life in the NICU. The Steppig family credits the nurses and staff in the NICU with keeping Evelyn alive and happy. "They loved our daughter like she was their daughter," said Salem Steppig, Evelyn's mom.