AUTHOR AND EDITOR INFORMATION

Section 1 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

INTRODUCTION

Section 2 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Background

Gastroschisis represents a herniation of abdominal contents through a paramedian full-thickness abdominal fusion defect. The abdominal herniation is usually to the right of the umbilical cord. No genetic association exists. A gastroschisis usually contains small bowel and has no surrounding membrane. The herniated bowel is not rotated and is devoid of secondary fixation to the posterior abdominal wall.

Gastroschisis usually is detected in the second trimester using antenatal sonography.^{1, 2, 3, 4, 5, 6, 7, 8, 9} The maternal serum alpha-fetoprotein (AFP) level is elevated in 77-100% of mothers. The mortality rate is approximately 17%. Surgical repair should be offered within the first day after delivery to avoid infection. The outcome is no different in infants delivered in tertiary obstetric centers than in infants delivered in smaller peripheral hospitals, although delivery within easy access of a neonatal surgical unit is advised. Cesarean delivery is performed in many mothers of fetuses with gastroschisis, although this does not convey any advantage over vaginal delivery.

For excellent patient education resources, visit eMedicine's Pregnancy and Reproduction Center. Also, see eMedicine's patient education articles Hernia and Cesarean Childbirth.

Related eMedicine topics:
Abdominal Hernias
Omphalocele
Omphalocele and Gastroschisis

Related Medscape topics:
Resource Center Hernia
Resource Center Pediatrics/Neonatal Care Nursing
Resource Center Pregnancy
CME/CE Offspring of Obese Mothers May Have an Increased Risk for Certain Birth Defects
Recreational Drug Use in First Trimester May Increase the Risk of Gastroschisis
Ward reduction without general anaesthesia versus reduction and repair under general anaesthesia for gastroschisis in newborn infants

Pathophysiology

Controversy exists regarding the cause of gastroschisis. Some authorities suggest that the defect is caused by abnormal involution of the right umbilical vein, resulting in rupture of the anterior abdominal wall at a point of weakness. Others suggest that gastroschisis results from rupture of an exomphalos. Rupture of a small omphalocele and transformation into a gastroschisis has been described in utero. This observation has led to speculation that gastroschisis could represent an omphalocele that ruptures before the somatic components of the anterior abdominal wall become folded. However, the much-increased incidence of associated anomalies in patients with omphalocele does not support this theory.

Another theory for the etiology of gastroschisis is premature interruption of the right omphalomesenteric artery, which results in ischemic injury to the anterior abdominal wall through which herniation of abdominal contents occurs. This artery persists under normal circumstances.

The use of recreational drug use has been quoted as a significant risk factor for gastroschisis.¹⁰ Maternal hair analysis proved an acceptable and valuable method of independently verifying recreational drug use.

Because the herniated bowel is bathed by amniotic fluid, both maternal serum and amniotic fluid AFP levels are elevated, more so than in exomphalos. In early pregnancy, the bowel loops can be seen floating in the amniotic fluid. The thickness and the diameter of the bowel are normal. Later in pregnancy, bowel obstruction, peritonitis, bowel perforation, and fetal growth restriction may occur. Intrauterine growth restriction (IUGR) occurs in 38-77% of fetuses and is usually secondary to nutrient loss through exposed bowel. Approximately 48% of infants with gastroschisis are small for their gestational age.¹¹

A bowel diameter greater than 17 mm usually represents significant bowel dilatation, and diameters greater than 11 mm are usually associated with a greater number of postnatal bowel complications. Sonographic findings of bowel abnormalities are associated with difficult abdominal wall repair and an increased incidence of complications.

Tibboel and associates reviewed a number of studies in which prenatal and postnatal autopsy material showed no evidence of abnormal histologic results in ganglion cells or in the myenteric nervous system to explain the motility disorder that accompanies some cases of gastroschisis.¹² Tibboel et al also showed that a fibrous peel surrounds the herniated bowel beginning at approximately 30 weeks' gestation. Ischemic changes in the bowel loops are usually not seen in fetuses with gastroschisis who were aborted before 30 weeks' gestation. However, ischemic changes are seen in postnatal infants who have hypoperistalsis, which suggests that bowel vascular compromise may occur at the abdominal wall defect late in pregnancy.

The cause of bowel injury in gastroschisis has been controversial for several years. Experimental animal models have shown that when bowel is exposed to allantoic contents, it thickens, becomes edematous, and develops a fibrous peel, whereas bowel exposed to amniotic fluid alone develops normally. Results from animal models have led to the suggestion that the urine in amniotic fluid causes the bowel damage.¹³ The fibrous peel consists of type 1 collagen and fibrin, and it usually dissolves after surgical repair. Some authors suggest that the peel itself may cause the bowel motility disorder.

Another animal study showed that bowel damage in gastroschisis at least partially depends on meconium exposure in utero.¹⁴ The authors of this study suggested that the increasing evidence of physiologic in utero defecation supports the hypothesis that bowel damage in gastroschisis may be meconium dependent.

Gastroschisis is classified as an open fetal defect by virtue of the finding that it is not covered by skin. Open fetal defects allow diffusion of AFP from the fetal circulation into amniotic fluid. Because the fetal AFP level is 200-300 times as high as the concentration in amniotic fluid, the diffusion is not only reflected as higher amniotic fluid AFP levels, but it is also reflected in higher maternal serum AFP levels, albeit to a lesser degree.

AFP levels in gastroschisis are usually higher than those found with omphalocele. The lower maternal serum AFP level in open fetal defects reflects the fact that the amnion represents a significant barrier to the diffusion of AFP from the amniotic fluid into the maternal circulation. Maternal serum AFP levels are usually higher than 2.5 multiples of the median (MoM) in 77-100% of mothers of fetuses with gastroschisis.

Major malformations and chromosomal anomalies are common in association with omphalocele. However, these anomalies are rare in gastroschisis, with the exception of intestinal atresia, which appears to be a direct consequence of in utero herniation. Bowel anomalies occur in 5% of patients with gastroschisis and include intestinal atresia or stenosis resulting from vascular compromise. Rarely, ectopia cordis has been recorded.⁶ Chromosomal anomalies in gastroschisis are extremely rare, and most centers do not recommend karyotyping in infants with gastroschisis.

Related Medscape topics:
Resource Center Addiction
Resource Center Genomic Medicine
Resource Center Hernia
CME/CE Offspring of Obese Mothers May Have an Increased Risk for Certain Birth Defects
Recreational Drug Use in First Trimester May Increase the Risk of Gastroschisis

Frequency

United States

The incidence of gastroschisis is 1.75-2.5 cases per 10,000 live births. Most cases are sporadic, although a few familial cases have been reported. Occurrence in twins has been reported.

International

The incidence is the same as in the United States.

Mortality/Morbidity

Although reported survival rates are good in gastroschisis, the postoperative hospital stay is often lengthy, and complications occur frequently, especially complications related to the gastrointestinal tract.¹⁵ Evidence of bowel damage, such as atresia, necrosis, or severe dilatation or thickening of the bowel, or the inability to close the abdominal defect primarily indicates a poor prognosis. Prenatally, bowel obstruction, peritonitis, bowel perforation, prematurity, and fetal growth restriction may be complications of gastroschisis. Postnatally, malrotation, small bowel atresia or stenosis, bowel infarction, prolonged intestinal motility dysfunction, necrotizing enterocolitis, chronic short-gut syndrome, and hyperalimentation hepatitis may occur.

Deformations of the fetal urinary tract can develop secondary to gastroschisis. These do not represent separate malformations, and karyotyping is not indicated. When hydronephrosis is present, ongoing urologic evaluation of the neonate is indicated.

Survival rates after surgery are 87-100%. Mortality rates are 17%, and most deaths occur as a result of premature delivery, sepsis, and bowel infarction. The clinical outcome cannot be correlated with the size of the abdominal defect as estimated using sonography or with the known time of exposure to amniotic fluid. Gastroschisis diagnosed antenatally can resolve in utero—causing necrosis of portions of the small and large bowel, leading to short-bowel syndrome and increased mortality and morbidity rates. Spontaneous resolution of gastroschisis and closure of the anterior abdominal wall defect have been described.^{16, 17, 18, 19}

Associated anomalies are more uncommon than in omphalocele. The reported overall incidence of associated anomalies is 7-30%. The anomalies are not related directly to the defect and include anencephaly, cleft lip and palate, ectopia cordis, atrial septal defect, diaphragmatic hernia, scoliosis, syndactyly, and amniotic band. These anomalies add to the morbidity.

Neonatal outcome of live-born infants following a prenatal diagnosis of gastroschisis is not different from a diagnosis at birth. The presence of intestinal atresia is the most important prognostic factor for morbidity.²⁰ However, it is not always possible to determine whether the gastroschisis defect is simple or complex by antenatal scans, although this information is obviously valuable to families with infants with gastroschisis because the length of hospital stay and ultimate prognosis is dependent on this knowledge.

Vachharajani and associates described the outcomes of 70 infants with gastroschisis who were admitted to their neonatal intensive care unit between 2001 and 2005.²¹ In this study, 72% of the patients had isolated gastroschisis, whereas 28% had more complex anomalies (intestinal atresia, perforation, bowel necrosis, or volvulus). The authors concluded that not only was the type of gastroschisis (simple vs complex) an important factor in the infants' outcomes, but also the duration of parenteral nutrition, length of hospital stay, and survival were affected.

Improvements in short-term results of gastroschisis treatment can be attributed to more recent developments in prenatal diagnosis and the advancements of centralized perinatal care. There has also been considerable improvement in long-term results of babies treated for gastroschisis. The initial gastrointestinal problems and developmental delays are made up during the first 2 years of life, and therefore, a more optimistic prenatal counseling can now be given.

Mortality was quoted as nil following surgery in 40 patients with gastroschisis.²² In this group of 40 patients, delivery was by cesarean section in 93%, but the outcomes following vaginal delivery were no worse. Twenty-eight percent of the gastroschisis cases demonstrated congenital abnormalities that were limited to the gastrointestinal tract.²²

Sex

A slight male predilection exists.

Age

The diagnosis can often be made by using antenatal sonography before 20 weeks' gestation. With transvaginal sonograms, the diagnosis has been made as early as 12 weeks' gestation.

Anatomy

The anterior abdominal wall and umbilical cord insertion are readily recognized on antenatal scanning because the wall provides a direct interface between itself and the amniotic fluid. The anterior abdominal wall is best demonstrated by axial scans. Assessment of the lower anterior abdominal wall is occasionally made difficult by flexed fetal limbs. The inner aspect of the anterior abdominal wall is difficult to see because its echodensities are identical to the remainder of the abdominal viscera unless fetal ascites is present.

Gastroschisis results from herniation/evisceration of small bowel into the amniotic cavity through a small defect (2-5 cm) in the right paraumbilical region. Reportedly, the defect can be located in the left paraumbilical region, but this site is extremely rare. No covering membrane exists. The large bowel (common), pancreas, stomach, liver (rare), spleen, bladder, uterus, ovaries, and fallopian tubes may also be herniated. The attachment of the umbilical cord is normal.

Clinical Details

Gastroschisis is found incidentally or because of an elevated maternal AFP level. Rarely, polyhydramnios may prompt an antenatal sonographic examination. Fetal growth restriction is a frequent association. Oligohydramnios is rare. Chromosomal anomalies are not associated with gastroschisis, and familial occurrence is exceptionally rare. Approximately 50% of fetuses with gastroschisis are small for their gestational dates. Fetal abdominal circumference, which is regarded as a standard reference for assessment of fetal size, does not apply to this group of fetuses; therefore, obstetric management may be difficult.

The presence of the bowel in amniotic fluid may affect cardiotocographic monitoring. As a result of the difficulty in monitoring fetal maturity and fetal well-being, cesarean delivery is performed with many fetuses, although this does not convey an advantage in terms of fetal mortality or morbidity. Postnatal management requires a sterile covering of cling film over the herniated viscera to prevent infection, heat and evaporative loss, and the need for immediate transfer to a neonatal surgical unit.²³ Hospital stays for these infants are lengthy, and although most of these infants are usually on normal feedings by 4 weeks from the date of delivery, many affected infants require months of intravenous feeding because of the many bowel complications associated with gastroschisis.

Related Medscape topics:
Resource Center Neonatal Medicine
Resource Center Parenteral and Enteral Nutrition
Resource Center Pediatrics/Neonatal Care Nursing
Specialty Site Gastroenterology
Specialty Site Surgery

Preferred Examination

Antenatal sonography is the key imaging examination available, with detection rates of 70-72%. Prenatal sonography is the primary imaging modality in pregnancy because it is noninvasive, is rapid, and allows real-time fetal examination. Plain radiographs and bowel contrast studies may be indicated in the postnatal postoperative period to assess bowel complications.

Limitations of Techniques

Sonography remains operator dependent, and artifacts are a problem. Despite the straightforward nature of the defect, a diagnosis of gastroschisis can be missed.

Misdiagnosis of exomphalos as gastroschisis has occurred in 5% of patients. This misdiagnosis has serious implications because exomphalos is often associated with chromosomal and other severe anomalies and karyotyping is not performed in patients with gastroschisis.

In one case series, gastroschisis was misdiagnosed as exomphalos at a rate of 14.7%. This misdiagnosis results in unnecessary amniocentesis, which exposes the fetus to the risks involved in amniocentesis and which also exposes the mother to psychological trauma.

Assessment of fetal size by using abdominal circumference measurements is difficult in the presence of gastroschisis. Postnatal plain radiographs and bowel-contrast studies lack specificity and expose the infant to a radiation burden. However, Siemer et al have developed a sonographic weight formula for fetuses with abdominal wall defects.¹¹ The authors evaluated their formula in a group of 97 fetuses with either gastroschisis or omphalocele and concluded that it provided a significantly greater accuracy in estimating fetal weight than a more commonly used formula. More data will be necessary to determine the utility of Siemer et al's formula.

DIFFERENTIALS

Section 3 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Other Problems to Be Considered

Physiologic bowel herniation

Physiologic herniation occurs at 10-13 weeks. The best method for differentiating this from an omphalocele is to obtain a repeat sonogram after 15 weeks' menstrual age. A large defect with the liver exteriorized indicates an omphalocele at any gestational age.

Omphalocele

Omphalocele is herniation of a variable amount of abdominal viscera through a defect (2-10 cm) at the base of the umbilical cord. A membrane covers the herniation, differentiating it from gastroschisis, and the umbilical vessel inserts into the apex. Association with liver herniation, ascites, cardiac defects, and chromosomal anomalies is frequent. Association with holoprosencephaly and limb anomalies is occasional. The incidence of chromosomal abnormalities is high at approximately 33%. The prognosis is related to the karyotype, associated abnormalities, and contents of the omphalocele.²⁴

Umbilical hernia

Umbilical hernia results from a defect in the linea alba; the protruding bowel is covered by subcutaneous tissues and skin. Umbilical hernia is common in the first months in 20% of black neonates and in 3% of white neonates, as well as common in premature infants, namely, in more than 5% of premature infants weighing less than 1500 g. Sonographic findings include a prominent bulge of the anterior abdominal wall that may contain omentum and/or bowel, which may protrude into the umbilical cord. Amniotic fluid AFP levels may be elevated when the bowel is herniated into the umbilical cord.

Amniotic band syndrome

Amniotic band syndrome (ABS) is a common cause of an abdominal wall defect. Involvement of the abdominal wall may produce appearances similar to gastroschisis. However, an atypical location of the abdominal wall defect suggests the diagnosis of ABS. Membranes contiguous with such a defect may be identified.

Bladder extrophy

Sonographically, bladder extrophy may present as an external, well-defined, solid or complex mass immediately superior to the fetal genitalia. Prolonged and repeated scans fail to reveal the fetal bladder. The renal collecting system and ureters need not be dilatated, and unilateral or horseshoe kidneys may be found. Uterine and adnexal anomalies are relatively frequent. The pubis is abnormally wide, and the umbilical cord insertion may be abnormal.

Cloacal extrophy

Cloacal extrophy consists of a low omphalocele; bladder or cloacal extrophy; and, frequently, other caudal anomalies. These other conditions may include meningomyelocele anal atresia and lower limb anomalies. Most affected fetuses have a single umbilical artery. Sonographic findings include a low anterior abdominal mass below the umbilical cord that is associated with an absent urinary bladder.

Limb-body-wall complex

Limb-body-wall complex (LBWC) is a lethal condition with a severe anterior abdominal wall defect. The defect is placed laterally and involves the size of the umbilical cord insertion. The abdominal contents lie outside within a sac of amnion and mesoderm. Association with congenital heart defects (CHDs), cranial anomalies (encephalocele), limb abnormalities, and scoliosis is frequent. Chromosomal defects are usually not present.

Cavernous hemangioma

Cavernous hemangiomas are most frequently found over the lower body and are often associated with Klippel-Trenaunay-Weber syndrome, which is diagnosed in the presence of multiple surface masses, producing limb hypertrophy. Hydrops may occur.

Thoracoabdominal pentalogy of Cantrell

Ectopia cordis associated with a ventral wall defect should prompt the diagnosis of pentalogy of Cantrell. The syndrome is often associated with other anomalies.

Blood clot

A blood clot around the umbilicus secondary to traumatic amniocentesis or abruptio placenta may mimic gastroschisis.

RADIOGRAPH

Section 4 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Findings

Conventional radiography is no longer used in the assessment of fetal abnormalities because this imaging modality exposes both the mother and fetus to an unnecessary radiation burden. However, conventional radiology does have a role in postnatal evaluations, particularly in infants in the postoperative period. A minority of infants develop complications, such as necrotizing enterocolitis, short-bowel syndrome, persistent bowel dysfunction, and cholestatic jaundice. Investigation by means of plain imaging, contrast studies, and sonographic examinations are necessary and helpful in these patients.

Plain images reveal bowel-wall thickening, luminal dilatation, and generalized abdominal distention. A small-bowel enema is considered superior to conventional follow-through in distinguishing mechanical obstruction from functional obstruction in infants with persistent bowel dilatation.²⁵

Degree of Confidence

Conventional radiographs demonstrate poor resolution between maternal parts and fetal parts, and they have no place in antenatal management.

Plain-film and contrast radiography are excellent noninvasive procedures for use in the investigation of the postoperative persistent gaseous distention in infants, and plain radiography remains the most useful noninvasive procedure in the radiographic diagnosis of small bowel obstruction despite its limited sensitivity (50-66%). When plain radiographic findings are combined with the clinical history and results of physical and laboratory examinations, a confident diagnosis of small bowel obstruction can usually be made.

False Positives/Negatives

Plain radiographs cannot always be used to differentiate mechanical obstruction from functional obstruction. Differentiating an adynamic ileus from a mechanical small bowel obstruction may be particularly difficult, especially in the immediate postoperative period. Eventually, most intestinal obstructions (especially when strangulation is present) may lead to an adynamic ileus, which is associated with perforation and peritonitis. Under these circumstances, gas may appear in the small bowel proximal to the obstruction or may be retained in the atonic colon, leading to diagnostic confusion.

Little or no gas within the small bowel may lead to a false-negative diagnosis.

CT SCAN

Section 5 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Findings

The computed tomography (CT) scan appearance of fetal gastroschisis discovered as an incidental finding was reported in a 25-year-old woman who was pregnant and who underwent CT scanning for blunt abdominal trauma.²⁶ However, the high radiation burden makes CT scanning unsuitable for use in the assessment of fetal anomalies.

MRI

Section 6 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Findings

In general, magnetic resonance imaging (MRI) has not been used in the diagnosis of gastroschisis, partly because MRI is time consuming, expensive, and limited in availability. Moreover, to date, the image quality has been poor. Some of these problems have been overcome with the use of ultrafast sequences; therefore, MRI can be used as an adjunct to sonography, especially in patients in whom sonographic findings are unclear or degraded as a result of obesity or oligohydramnios.^{1, 27, 28, 29, 30, 31}

MRI findings frequently add information beyond that available with sonograms. This information commonly changes patient counseling and, at times, patient treatment.^{1, 27, 28, 29, 30, 31} MRI does provide a global view of the fetus and analysis of the anatomy in multiple planes. This imaging modality is useful in the diagnosis of intestinal obstruction and detection of microcolon, malrotation, and volvulus.

Degree of Confidence

Fetal MRI during the first trimester remains controversial secondary to biosafety issues, and its use is limited because of the diminutive fetal size. However, fetal abdominal masses are well depicted on MRIs, and the performance of MRI is not affected by diminished amounts of amniotic fluid.

False Positives/Negatives

Sufficient experience has not yet been gained in the diagnosis of anterior abdominal wall defects with MRI to determine the existence of false-positive findings.

ULTRASOUND

Section 7 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Findings

Prenatal sonography is the primary imaging modality in pregnancy because it is noninvasive and rapid, and because it allows real-time fetal examination. In suspected gastroschisis, the following sonographic features suggest the diagnosis:

• Findings include exteriorized bowel in relation to the anterior abdominal wall, multiple loops of bowel, and a thickened bowel floating freely in the amniotic fluid. The bowel can be identified by its characteristic sonographic pattern.
• Because no covering is present around the bowel loops, the bowel loops of a gastroschisis result in a mass with irregular edges.
• Usually, the small and large bowels are herniated, but, occasionally, the stomach, liver, gallbladder, spleen, uterus, adnexa, and urinary bladder may be herniated.
• Signs of intestinal obstruction may be depicted; examples of these include multiple distended loops of bowel (both intraperitoneal and extraperitoneal), bowel loops greater than 17 mm in diameter, and increased peristalsis. Polyhydramnios may ensue in high intestinal obstructions. A bowel diameter of greater than 17 mm usually represents significant bowel dilatation, and diameters greater than 11 mm are usually associated with a greater number of postnatal bowel complications.
• A right paramedian paraumbilical abdominal wall defect is revealed, usually of 2-5 cm.
• Insertion of the umbilical cord is normal.
• Typically, no ascites is noted.
• Bowel perforation can cause calcification and an intramesenteric extra-abdominal pseudocyst.
• Unlike with omphalocele, associated anomalies are uncommon, but if present, most are detectable on antenatal sonography.
• Color Doppler and Doppler velocimetry of the mesenteric circulation have been used in the diagnosis of gastroschisis, but findings add little to the clinical outcome and are not predictive of a poor neonatal outcome.³²
• Addition of 3-dimensional (3-D) sonography in patients with abdominal wall defects can help in family counseling and in planning postnatal therapy.³
• Sonography can be used in the postoperative neonatal period when images may demonstrate features of intestinal obstruction, volvulus, perforation, ascites, and other fluid collections.

Related eMedicine topics:
Gastric Volvulus
Midgut Volvulus
Polyhydramnios and Oligohydramnios

Related Medscape topics:
Resource Center Neonatal Medicine
Resource Center Parenteral and Enteral Nutrition
Resource Center Pediatrics/Neonatal Care Nursing
Specialty Site Gastroenterology
Specialty Site Surgery

Degree of Confidence

The sensitivity of abnormality detection using sonography is 75% for gastroschisis and 77.3% for omphalocele. Ultrasound sensitivity in the diagnosis of gastroschisis has improved considerably over the past 2 decades.

False Positives/Negatives

Other anterior abdominal wall defects may mimic gastroschisis, but with the use of modern ultrasound equipment, confusion should not arise. When the liver is intra-abdominal in an omphalocele, a false diagnosis of gastroschisis may be entertained; however, the many anomalies associated with omphalocele should indicate the correct diagnosis. Bladder extrophy, body-stalk anomaly, and periumbilical blood clots are other mimics of gastroschisis (see Differentials and Other Problems to Be Considered).

INTERVENTION

Section 8 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Amniocentesis may be required in patients in whom omphalocele cannot be differentiated from gastroschisis. This is particularly the case when liver herniation occurs in gastroschisis. Amniocentesis may also be performed for karyotyping in the unusual event that other anomalies are present in association with gastroschisis.

Amnioinfusion has been used to improve the outcome in fetuses affected by gastroschisis.³³ The mechanism by which this improvement results from a reduction of inflammatory change remains to be proved. Another indication for amnioinfusion is in fetuses with gastroschisis complicated by oligohydramnios.³⁴ This is a particularly high-risk group in which serial sonography and computerized fetal heart rate monitoring are necessary during the third trimester. In selected fetuses with gastroschisis and severe oligohydramnios, serial amnioinfusion may be beneficial.

Related eMedicine topics:
Omphalocele and Gastroschisis
Polyhydramnios and Oligohydramnios

Related Medscape topics:
Resource Center Genomic Medicine
Resource Center Hernia

Medical/Legal Pitfalls

• Before widespread use of antenatal sonography, anterior abdominal wall defects were conditions that presented at birth to the dismay of the parents and the attending physician.
• Antenatal sonography has introduced a new set of dilemmas and difficult questions for both physician and parents. In the light of sonographic findings, difficult decisions must be made by the family, which puts the physician under pressure to make an accurate diagnosis so that parents can make informed decisions.
• Two anterior abdominal wall defects that may mimic each other and are important to differentiate are gastroschisis and omphalocele.^{11, 22} The presence of each defect has different implications; therefore, false-negative or false-positive diagnoses should be avoided at all costs.

Related eMedicine topics:
Omphalocele
Omphalocele and Gastroschisis

Related Medscape topic:
Resource Center Medical Malpractice and Legal Issues

Special Concerns

• With the use of antenatal sonography, the diagnosis of a surgically treatable malformation is made before birth in an increasing number of fetuses. This allows fetal intervention, in utero transfer, planned delivery in a specialized unit, and antenatal counseling of the parents regarding the likely prognosis and outcome.³⁵ Counseling by specialized staff has been shown to reduce the levels of parental anxiety associated with the diagnosis of a fetal surgical malformation.^{35, 36}

MULTIMEDIA

Section 9 of 10  

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

Media file 1:  Diagram of the transverse section of the fetal abdomen showing gastroschisis. Note the bowel herniation in the right paramedian/paraumbilical region. The cord is inserted in the normal location to the left of the herniation. No membranous covering exists over the herniated bowel.
	View Full Size Image
Media type:  Illustration

Media file 2:  Axial sonogram through the mid abdomen of a fetus. This image shows exteriorized bowel in relation to the anterior abdominal wall. Multiple loops of bowel are depicted. Because the bowel loops are not covered, they have irregular edges. L = liver.
	View Full Size Image
Media type:  Ultrasound

Media file 3:  Axial sonogram through the mid to upper abdomen. This image shows free-floating exteriorized bowel in relation to the anterior abdominal wall. S = stomach; V = spine.
	View Full Size Image
Media type:  Ultrasound

REFERENCES

Section 10 of 10

• Authors and Editors
• Introduction
• Differentials
• Radiograph
• CT SCAN
• MRI
• Ultrasound
• Intervention
• Multimedia
• References

1. Miyakoshi K, Ishimoto H, Tanigaki S, et al. Prenatal diagnosis of midgut volvulus by sonography and magnetic resonance imaging. Am J Perinatol. Dec 2001;18(8):447-50. [Medline].
2. Perez CG, Goldstein RB. Sonographic borderlands in the fetal abdomen. Semin Ultrasound CT MR. Aug 1998;19(4):336-46. [Medline].
3. Bonilla-Musoles F, Machado LE, Bailao LA, et al. Abdominal wall defects: two- versus three-dimensional ultrasonographic diagnosis. J Ultrasound Med. Apr 2001;20(4):379-89. [Medline].
4. Barisic I, Clementi M, Häusler M, et al. Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound Obstet Gynecol. Oct 2001;18(4):309-16. [Medline].
5. Axt R, Quijano F, Boos R, et al. Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989-1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. Eur J Obstet Gynecol Reprod Biol. Nov 1999;87(1):47-54. [Medline].
6. Berrocal T, Lamas M, Gutieérrez J, et al. Congenital anomalies of the small intestine, colon, and rectum. Radiographics. Sep-Oct 1999;19(5):1219-36. [Medline]. [Full Text].
7. Fogata ML, Collins HB 2nd, Wagner CW, Angtuaco TL. Prenatal diagnosis of complicated abdominal wall defects. Curr Probl Diagn Radiol. Jul-Aug 1999;28(4):101-28. [Medline].
8. Emanuel PG, Garcia GI, Angtuaco TL. Prenatal detection of anterior abdominal wall defects with US. Radiographics. May 1995;15(3):517-30. [Medline]. [Full Text].
9. Abu-Yousef MM, Wray AB, Williamson RA, Bonsib SM. Antenatal ultrasound diagnosis of variant of pentalogy of Cantrell. J Ultrasound Med. Sep 1987;6(9):535-8. [Medline].
10. Draper ES, Rankin J, Tonks AM, et al. Recreational drug use: a major risk factor for gastroschisis?. Am J Epidemiol. Feb 15 2008;167(4):485-91. [Medline].
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Article Last Updated: May 23, 2008