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Esophageal Atresia and

Tracheoesophageal Fistula
DWAYNE C. CLARK, LCDR, MC, USNR,
Cherry Point Naval Hospital,
Cherry Point, North Carolina

A patient information
handout on esophageal
atresia and
tracheoesophageal fistula,
written by the author of this
article, is provided on page
919.

Esophageal atresia, with or without tracheoesophageal fistula, is a fairly common congenital disorder that
family physicians should consider in the differential diagnosis of a neonate who develops feeding
difficulties and respiratory distress in the first few days of life. Esophageal atresia is often associated with
other congenital anomalies, most commonly cardiac abnormalities such as ventricular septal defect,
patent ductus arteriosus or tetralogy of Fallot. Prompt recognition, appropriate clinical management to
prevent aspiration, and swift referral to an appropriate tertiary care center have resulted in a significant
improvement in the rates of morbidity and mortality in these infants over the past 50 years.

Esophageal atresia with tracheoesophageal fistula occurs in one of 3,000 to 5,000 births.
Family physicians who care for neonates should be aware of both the clinical presentation and
management of neonates with this condition. Before the performance of the first successful
repair in 1939, this condition was fatal. Over the past 50 years, refinements in neonatal surgical
technique, preoperative support, anesthesia and neonatal intensive care have improved the
outcome. It is also recognized that prompt diagnosis with appropriate clinical management and
expeditious referral to a tertiary care center have had a dramatic impact on the improved survival
of these infants. Estimates today suggest that, in the absence of
other severe anomalies, survival rates in these infants approach
100 percent.1-4

Illustrative Case
A female neonate weighing 3,315 g (7 lb, 5 oz) was delivered
after a gestation of 41 weeks and five days by uncomplicated
primary low-transverse cesarean section. This was the first
pregnancy for the 26-year-old mother. Cesarean section was
performed secondary to arrest of dilatation at 7 cm. The maternal
history was remarkable for a positive result on Chlamydia
screening at 10 weeks of gestation and mild anemia that was
treated with iron, ascorbic acid and prenatal vitamins. The
infection was treated with azithromycin, and the patient
subsequently had a negative test for Chlamydia. All other
FIGURE 1. Posteroanterior chest
prenatal screening laboratory tests were unremarkable. Total
radiograph taken at 10 hours of
weight gain for the pregnancy was 23.6 kg (52 lb). Fundal height
life in a neonate with suspected
esophageal atresia. Note that the consistently agreed with dates throughout the pregnancy.
nasogastric tube has coiled in the
proximal esophageal pouch
(solid arrow). The prominent
gastric bubble (open arrow)
supports the presence of a
concurrent tracheoesophageal
fistula. The presence of bowel
gas refutes the possibility of
duodenal atresia.

A routine post-date non-stress test one week before delivery was reactive. An abdominal
ultrasonogram obtained at the same time revealed an amniotic fluid index of 21.5. At delivery,
the infant was vigorous and had Apgar scores of 9 at one minute and 9 at five minutes. The initial
physical examination at one hour of life was remarkable only for a slight increase in white oral
secretions, which cleared with suctioning. The patient passed a meconium stool in the first six
hours of life and reportedly tolerated her first feeding without difficulty.
At approximately 10 hours of life, the infant was noted to have some crackles on routine
auscultation. Respiratory rate was normal. The infant's oral secretions were also increased.
Esophageal atresia was suspected, and an attempt was made to pass a nasogastric tube. A chest
radiograph was obtained (Figure 1). Nasogastric aspiration revealed a copious, mucus-like, white
aspirate. A diagnosis of esophageal atresia with probable tracheoesophageal fistula was made,
and the infant was transferred to a tertiary care facility with pediatric surgery capabilities. The
patient underwent surgery on the second day of life. Bronchoscopy confirmed the
tracheoesophageal fistula (Figure 2), and primary surgical repair was accomplished.

The rightsholder did not grant rights to


reproduce this item in electronic media. For
the missing item, see the original print
version of this publication. FIGURE 2.

Embryology
The esophagus and trachea derive from the primitive foregut. During the fourth and fifth weeks
of embryologic development, the trachea forms as a ventral diverticulum from the primitive
pharynx (caudal part of the foregut),5 as illustrated in Figure 3. A tracheoesophageal septum
develops at the site where the longitudinal tracheoesophageal folds fuse together. This septum
divides the foregut into a ventral portion, the laryngotracheal tube and a dorsal portion (the
esophagus). Esophageal atresia results if the tracheoesophageal septum is deviated posteriorly.
This deviation causes incomplete separation of the esophagus from the laryngotracheal tube and
results in a concurrent tracheoesophageal fistula.

FIGURE 3. Successive stages in the development of the tracheoesophageal septum during


embryologic development. (A) The laryngotracheal diverticulum forms as a ventral
outpouching from the caudal part of the primitive pharynx. (B) Longitudinal
tracheoesophageal folds begin to fuse toward the midline to eventually form the
tracheoesophageal septum. (C) The tracheoesophageal septum has completely formed.
(D) If the tracheoesophageal septum deviates posteriorly, esophageal atresia with a
tracheoesophageal fistula develops.

Esophageal atresia as an isolated congenital anomaly may occur, rarely. In these cases, the atresia
is attributable to failure of the recanalization of the esophagus during the eighth week of
development and is not associated with tracheoesophageal fistula. A recent experimental animal
model, wherein prenatal exposure to adriamycin leads to esophageal atresia and
tracheoesophageal fistula, may increase our understanding of the embryogenesis of these
malformations.6

Pathology
Esophageal atresia is characterized by incomplete formation of the esophagus. It is often
associated with a fistula between the trachea and the esophagus. Many anatomic variations of
esophageal atresia with or without tracheoesophageal fistula have been described7,8 (Figure 4).
Table 11,3,9-12 provides a summary of the incidence of these variations at multiple worldwide
surgical centers. The most common variant of this anomaly consists of a blind esophageal pouch
with a fistula between the trachea and the distal esophagus, which is estimated to occur 84
percent of the time. The fistula often enters the trachea close to the carina.

FIGURE 4. Relative frequencies of occurrence of the various types of esophageal atresia


(EA) with and without tracheoesophageal fistula (TEF).

The proximal esophageal pouch is often hypertrophied and dilated secondary to the fetus' efforts
to swallow amniotic fluid. The muscular pouch may also compress the trachea, and this
compression has been implicated in the development of the tracheomalacia that is sometimes
reported in these infants.
The second most common anomaly is pure atresia without tracheoesophageal fistula. This
condition is usually associated with an underdeveloped distal esophageal remnant, making
surgical repair more cumbersome. The third most common variation is the H-type fistula, which
consists of a tracheoesophageal fistula without esophageal atresia. This aberration is more
difficult to diagnose clinically. If the fistula is long and oblique, the symptoms may be minimal,
and the condition may not be identified for many years.

TABLE 1
Summary of Six Studies of the Frequency of Various Types of
Esophageal Atresia, Tracheoesophageal Fistula, or Both
Number of
study
Study (dates) subjects
German, et al.9
(1964-1974)
Sillen, et al.10
(1967-1984)
Holder, et al.11
(1973-1986)

Type A
number

Type B
number

Type C
number

Type D
number

Type E
number

102

83

110

100

100

85

Poenaru, et
al.12 (19691989)
Engum, et al.3
(1971-1993)
Spitz, et al.1
(1988-1994)
Total

95

80

227

29

178

13

410

27

353

17

1,044

79 (8%)

10 (1%) 879 (84%)

31 (3%)

45 (4%)

Type A=pure esophageal atresia; type B=esophageal atresia with proximal tracheoesophageal
fistula; type C=esophageal atresia with distal tracheoesophageal fistula; type D=esophageal atresia
with proximal and distal tracheoesophageal fistula; type E=H-type tracheoesophageal fistula without
esophageal atresia.

Associated Defects
Associated congenital anomalies (Table 2) are discovered in approximately one half of infants
with esophageal atresia.13-15 Other midline defects are the most common of these anomalies. Most
infants have more than one malformation.
Cardiac anomalies are encountered in
approximately one quarter of these infants TABLE 2
and account for approximately one third of Associated Congenital Anomalies
all anomalies identified. Ventricular septal
Reported in Patients with Esophageal
defect, patent ductus arteriosus and
tetralogy of Fallot are the most frequently Atresia*
reported cardiac defects. The more
System affected Potential anomalies
complex cardiac malformations are often
associated with multiple other anatomic
Musculoskeletal Hemivertebrae, radial dysplasia or
defects and have been associated with a
amelia, polydactyly, syndactyly, rib
poorer outcome. Gastrointestinal
malformations, scoliosis, lower limb
defects
anomalies, including imperforate anus,
Gastrointestinal
Imperforate anus, duodenal atresia,
duodenal atresia and malrotation, make up
malrotation, intestinal
one fourth of the identified defects and
malformations, Meckel's
occur in approximately 16 percent of
diverticulum, annular pancreas
infants with esophageal atresia.
Cardiac
Ventricular septal defect, patent
ductus arteriosus, tetralogy of

Fallot, atrial septal defect, single


Musculoskeletal defects are common and
umbilical artery, right-sided aortic
include vertebral body abnormalities and
arch
defects of the ribs and extremities. Urinary
Genitourinary
Renal agenesis or dysplasia,
tract malformations such as ureteral
horseshoe kidney, polycystic
abnormalities, hypospadias, horseshoe
kidney, ureteral and urethral
kidney and renal agenesis can also occur.
malformations, hypospadias
Approximately 10 percent of patients with
esophageal atresia have an abnormality of *--With or without tracheoesophageal fistula.

the urinary tract or the musculoskeletal system. The acronym VATER, or VACTERL (vertebral
defect, anorectal malformation, cardiac defect, tracheoesophageal fistula, renal anomaly, radial
dysplasia and limb defects), has been used to describe the condition of multiple anomalies in
these infants.16 Up to 10 percent of infants with esophageal atresia have the VATER syndrome.
Isolated esophageal atresia is associated with a higher incidence of other malformations than
esophageal atresia with tracheoesophageal fistula. The H-type tracheoesophageal fistula has been
associated with other anomalies less often.

Clinical Presentation and Diagnosis


The first sign of esophageal atresia in the fetus may be polyhydramnios in the mother.
Polyhydramnios, however, has a broad differential diagnosis, including intestinal atresia, fetal
hydrops, neural tube defects, diaphragmatic hernia and intrathoracic lesions. The inability to
identify the fetal stomach bubble on a prenatal ultrasonogram in a mother with polyhydramnios
makes the diagnosis of esophageal atresia more likely.17-18 Prematurity has also been associated
with esophageal atresia.
Clinically, the diagnosis of esophageal atresia sometimes requires a high degree of suspicion.
Classically, the neonate with esophageal atresia presents with copious, fine, white, frothy bubbles
of mucus in the mouth and, sometimes, the nose. These secretions may clear with aggressive
suctioning but eventually return. The infant may have rattling respirations and episodes of
coughing, choking and cyanosis. These episodes may be exaggerated during feeding. If a fistula
between the esophagus and the trachea is present, abdominal distention develops as air builds up
in the stomach. The abdomen will be scaphoid if no fistula exists. Other anomalies, such as
imperforate anus, skeletal abnormalities or cardiac conditions, may be evident on physical
examination, but the physical examination may be otherwise unremarkable.
If esophageal atresia is suspected, a radiopaque 8 French (in preterm infants) or 10 French (in
term infants) nasogastric or feeding tube should be passed through the nose to the stomach. In
patients with atresia, the tube typically stops at 10 to 12 cm. The normal distance to an infant's
gastric cardia is approximately 17 cm. If a soft, flexible tube is used, it may curl in the upper
pouch and give the physician a false sense that it has
passed to the stomach. In cases of suspected esophageal
The first sign of esophageal
atresia, chest radiographs (posteroanterior and lateral
atresia may be polyhydramnios.
views) should be obtained to confirm the position of the
tube. The radiograph should include the entire abdomen.
In patients with esophageal atresia, air in the stomach confirms the presence of a distal fistula,
and the presence of bowel gas rules out duodenal atresia. The chest radiograph provides
information about the cardiac silhouette, the location of the aortic arch and the presence of
vertebral and rib anomalies, as well as the presence of pulmonary infiltrates. Contrast studies are
seldom necessary to confirm the diagnosis. Such studies increase the risk of aspiration
pneumonitis and reactive pulmonary edema, and usually add little to plain film radiographs.

Management and Treatment

Once a diagnosis of esophageal atresia is established,


preparations should be made for surgical correction.
Measures should be taken to reduce the risk of
If a fistula exists between the
aspiration. The oral pharynx should be cleared, and an 8 esophagus and the trachea,
French sump tube placed to allow for continuous
abdominal distention will develop
suctioning of the upper pouch. The infant's head should as air builds up in the stomach.
be elevated. Intravenous fluids (10 percent dextrose in
water) should be started. Oxygen therapy is used as
needed to maintain normal oxygen saturation. In infants with respiratory failure, endotracheal
intubation should be performed. Bag-mask ventilation is not appropriate since it may cause acute
gastric distention requiring emergency gastrostomy.
If sepsis or pulmonary infection is suspected, broad-spectrum antibiotics (such as ampicillin plus
gentamicin) should be administered. Some sources, however, recommend starting intravenous
antibiotics empirically because of the increased risk of aspiration.4,7 The infant should also be
transferred to a tertiary care center with a neonatal intensive care unit.
Before surgical correction, the infant must be evaluated thoroughly for other congenital
anomalies. Chest radiographs should be evaluated carefully for skeletal abnormalities,
cardiovascular malformations, pneumonia and a right aortic arch. An abdominal radiographic
series will aid evaluation of skeletal abnormalities, intestinal obstruction and malrotation. The
chest and abdominal radiographs are usually sufficient; a contrast upper gastrointestinal series is
not usually necessary for evaluation of classic esophageal atresia. An echocardiogram and renal
ultrasonogram may also be obtained.
Gastrostomy for gastric decompression is reserved for use in patients with significant pneumonia
or atelectasis, to prevent reflux of gastric contents through the fistula and into the trachea.
Healthy infants without pulmonary complications or other major anomalies usually can undergo
primary repair in the first few days of life. Survival rates in this group of patients approach 100
percent.1-4,10-15
Surgical repair is delayed in infants with low birth weight, pneumonia or other major anomalies.
Premature low-birth-weight infants and infants with major concomitant malformations are
typically treated with parenteral nutrition, gastrostomy and upper pouch suction until they are
appropriate surgical candidates. The survival rate in this group is lower but in the range of 80 to
95 percent. Cardiac anomalies typically are the cause of death in these more complicated cases.

Outcome
Most neonates who undergo repair of esophageal atresia
and tracheoesophageal fistula have some degree of
esophageal dysmotility.2,3,7,19 The extent of the repair
If atresia is present, an inserted
dictates the severity of subsequent complications.
nasogastric tube will typically stop
Strictures at the site of the anastomosis are common and at 10 to 12 cm.
may subsequently require dilatation. Serial esophagraphy
should be performed at two months, six months and one

year of age, or whenever swallowing difficulties occur. Recurrence of the tracheoesophageal


fistula has been reported; recurrence requires repeat surgical correction.3,4,7,20,21 Recurrence is most
common at the site of the primary anastomosis. Tissue damage of the poorly vascularized distal
esophagus and surgical dissection performed too close to the trachea have been postulated as risk
factors for fistula recurrence.20
Approximately one half of patients with surgically corrected esophageal atresia develop
gastroesophageal reflux disease (GERD).3,7,21 Of those who develop GERD, approximately one
half respond to routine medical therapy with prokinetic agents, histamine H2 receptor blockers, or
both, and one half require surgical intervention for correction. Patients with longstanding GERD
may develop esophageal mucosal changes such as esophagitis and gastric metaplasia (Barrett's
esophagus).21 Adenocarcinoma of the esophagus resulting from gastric metaplasia was reported
in a patient with esophageal atresia 20 years after neonatal anastomosis. Other cases of Barrett's
esophagus in patients with esophageal atresia have been reported. For these reasons, some
authors advocate long-term endoscopic follow-up in these patients.21
The photograph in Figure 2 was provided by Maryanne Dokler, M.D.
The opinions and assertions contained herein are the private views of the author and are not to be
construed as official or as reflecting the views of the Army Medical Department or the Army Service at
large.

Intestinal Atresia and Stenosis


Related Services

Gastroenterology, Hepatology and Nutrition

Pediatric Surgeryy

Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in
the intestine. Stenosis refers to a partial obstruction that results in a narrowing of the opening
(lumen) of the intestine. Though these conditions may involve any portion of the gastrointestinal
tract, the small bowel is the most commonly affected portion.
The frequencies, symptoms and methods of diagnosis differ depending on the site of intestinal
involvement. Nevertheless, children with all forms of intestinal atresia require surgical treatment.
Types of Intestinal Atresia
Pyloric atresia

Pyloric atresia involves an obstruction at the pylorus, which is the passage linking the stomach
and the first portion of the small intestine (duodenum). This is quite rare, and tends to run in
families. Children vomit stomach contents, and due to the accumulation of intestinal contents
and gas, develop a swollen (distended) upper abdomen. Abdominal X-rays reveal an air-filled
stomach but no air in the remaining intestinal tract.

Pyloric Atresia
Duodenal atresia

The duodenum is the first portion of the small intestine that receives contents emptied from the
stomach. Duodenal atresia occurs in 1 out of every 2,500 live births. Half of the infants with this
condition are born prematurely and approximately two-thirds have associated abnormalities of
the heart, genitourinary, or intestinal tract. Nearly 40% have Down syndrome. Infants with
duodenal atresia usually vomit within hours after birth, and may develop a distended abdomen.
Abdominal X-rays show a large dilated stomach and duodenum without gas in the remaining
intestinal tract.
Duodenal Atresia
- Example 1
Duodenal Atresia
- Example 2
Jejunoileal
atresia

Jejunoileal atresia
involves an
obstruction of the
middle region
(jejunum) or lower
region (ileum) of the small intestine. The segment of intestine just before the obstruction
becomes massively enlarged (dilated), thus hindering its ability to absorb nutrients and propel its
contents through the digestive tract. In 10 to 15% of infants with jejunoileal atresia, part of the
intestine dies during fetal development. A significant percentage of infants with this condition
also have abnormalities of intestinal rotation and fixation. Cystic fibrosis is also an associated
disorder and may seriously complicate the management of jejunoileal atresia. Infants with
jejunoileal atresia should be screened for cystic fibrosis.

There are four subtypes of jejunoileal atresia:

Types of Jejunoileal Atresia

Atresia type I -- The blockage is created by a membrane (web) present on the


inner aspect of the intestine. The intestine usually develops to a normal
length.

Atresia type II -- The dilated intestine terminates as a blind end. It is


connected to a smaller caliber segment of the intestine by a fibrous scar. The
intestine develops to a normal length.

Atresia types IIIa and IIIb -- The blind ends of intestine are separated by a
defect in the intestinal blood supply. This often leads to a significantly
shortened intestinal length that may result in long-term nutritional
deficiencies or the short gut syndrome.

Atresia type IV -- Multiple regions of obstruction exist. This may result in a


very short length of useful intestine.

Infants with jejunoileal atresia, regardless of the subtype, usually vomit green bile within the first
24 hours of life. However, those with obstructions farther down in the intestine may not vomit
until two to three days later. Infants often develop a swollen (distended) abdomen and may not
have a bowel movement (as is normally expected) during the first day of life. Given the age of
the patient and the symptoms, an abdominal X-ray is usually sufficient to establish a diagnosis.
Colonic atresia

This rare form of intestinal atresia accounts for less than 15% of all intestinal atresias. The bowel
becomes massively enlarged (dilated), and patients develop signs and symptoms similar to those
associated with jejunoileal atresia. Colonic atresia may occur in conjunction with small bowel

atresia, Hirschsprung's disease or gastroschisis. The diagnosis is confirmed by an abdominal Xray along with an X-ray contrast enema.
Diagnosis of Artesia and Stenosis

Intestinal obstructions are increasingly being identified through prenatal ultrasounds. This
imaging technique may indicate excess amniotic fluid (polyhydramnios), which is caused by the
failure of the intestine to properly absorb amniotic fluid. If your physician suspects intestinal
atresia or stenosis, your infant will undergo the following diagnostic procedures after being
stabilized:

Abdominal X-ray -- In most cases, this can establish a diagnosis.

Lower gastrointestinal (GI) series -- This is a procedure that examines the


rectum, large intestine and lower part of the small intestine. An X-ray contrast
agent is given into the rectum as an enema; this coats the inside of the
intestines, allowing them to be seen on an X-ray. An abdominal X-ray may
show narrowed areas (strictures), obstructions, the width (caliber) of the
bowel and other problems.

Upper GI series -- This procedure examines the organs of the upper part of
the digestive system. It is particularly useful in cases where there is an upper
intestinal obstruction (pyloric or duodenal atresia). A liquid called barium,
which shows up well on X-rays, is given orally or administered through a small
tube placed through the mouth or nose into the stomach. X-rays are then
taken to evaluate the digestive organs.

Abdominal ultrasound -- Ultrasonography is an imaging technique used to


view internal organs as they function, and to assess blood flow through
various vessels. Gel is applied to the abdomen and a special wand called a
transducer is placed on the skin. The transducer sends sound waves into the
body that bounce off organs and return to the ultrasound machine, producing
an image on the monitor. A picture or videotape of the test is also made so it
can be reviewed later.

Due to the high percentage of infants born with intestinal atresia who also have associated, lifethreatening abnormalities, echocardiography and other imaging studies of the cardiac and renal
regions may also be performed after the infant is stabilized.
Treatment of Intestinal Atresia and Stenosis

Children with intestinal atresia and stenosis require an operation, and the exact type of operation
differs depending on the location of the obstruction. Prior to the operation, all babies must be
stabilized. The excess intestinal contents and gas that contribute to abdominal swelling
(distention) is removed through a tube that is placed into the stomach through the mouth or nose.
Removing air and fluid from the intestinal tract can prevent vomiting and aspiration, and reduce
the risk of bowel perforation. It also provides babies with some comfort as abdominal swelling is

relieved. Intravenous fluids are given to replace vital electrolytes (minerals and salts in the
bloodstream and body) and fluid that has been lost through vomiting. Once the baby is stabilized,
surgery is performed to repair the obstruction.
Pyloric atresia

The pyloric obstruction is opened and the stomach passageway is repaired. The success of this
operation is excellent. Length of hospital stay is generally between one to three weeks. However,
as in all types of intestinal atresia, the hospital stay is substantially longer for premature infants.
Duodenal atresia and stenosis

Duodenal atresia and stenosis are managed by connecting the blocked segment of duodenum to
the portion of duodenum just beyond the obstruction. Additionally, a tube may be temporarily
placed through a surgical opening in the abdominal wall (gastrostomy) to drain the stomach and
protect the airway. This tube can also be used for feeding if needed. Parents can expect their
child to remain in the hospital from one to several weeks, until the child's diet is sufficient to
permit adequate nutrition.
Jejunoileal atresia and stenosis

With jejunoileal atresia, the type of surgery depends on the type of atresia, the amount of
intestine present and the degree of intestinal dilation. The most common operation involves
removal of the blind intestinal segments, and the remaining ends are closed with sutures.
Similarly, a narrowed (stenosed) segment of the intestine can be removed and the bowel sutured
together, thus establishing intestinal continuity.
Colonic atresia

Babies with colonic atresia may undergo removal of the enlarged (dilated) colon in addition to a
temporary colostomy. Less frequently, the ends of colon are sutured together.
Infants With Intestinal Atresia and Stenosis

Babies with atresia are managed with a nasogastric tube that is left in place until their bowel
function returns. This may vary from a few days to several weeks. During the period of bowel
inactivity, nutrition is provided intravenously. Once the intestinal function is normalized,
nutrition is provided orally or through a feeding tube.
Long-term Outlook for Children With Intestinal Atresia and Stenosis

Children who undergo surgery for intestinal atresia require regular follow-up to ensure adequate
growth and development, and to avoid nutritional deficiencies that may occur as a result of the
loss of intestine.
How babies progress depends to a large extent on whether there is an associated abnormality and
whether or not the baby is left with an adequate length of intestine. In general, however, most
babies do well. Complications after surgery are rare, but may occur. In the immediate to early

postoperative period, intestinal contents may leak at the suture line where the ends of the bowel
were sewn together. This may cause an infection within the abdominal cavity and require
additional surgery. Complications that may later occur include malabsorption syndromes,
functional obstruction due to an enlarged and paralyzed segment of intestine, or short gut
syndrome.
Intestinal Malrotation and Volvulus
What is intestinal malrotation?

Intestinal malrotation is a birth defect involving a malformation of the intestinal tract. Intestinal
malrotation is an abnormality that occurs while a fetus is forming in its mother's uterus.

Click Image to Enlarge

As a fetus is growing in its mother's uterus before birth, different organ systems are developing
and maturing.

The digestive tract starts off as a straight tube from the stomach to the rectum.

Initially, it is located in the fetus' abdomen, but, for a while, part of the intestine moves
into the umbilical cord.

At about the 10th week of pregnancy, the intestine leaves the umbilical cord and goes
back into the abdomen.

After returning to the abdomen, the intestine makes two turns, and is no longer a straight
tube.

Malrotation occurs when the intestine does not make these turns as it should.
In addition, intestinal malrotation causes the cecum (the end of the small intestine) to develop
abnormally. The cecum is normally located in the lower right side of the abdomen. With
malrotation, the cecum and the appendix (which is attached to the cecum) stay in the upper right

side of the abdomen. Bands of tissue called Ladd's bands form between the cecum and the
intestinal wall and can create a blockage in the duodenum (the beginning of the small intestine).
A volvulus is a problem that can occur after birth as a result of intestinal malrotation. The
intestine becomes twisted, causing an intestinal blockage. This twisting can also cut off the blood
flow to the intestine, and the intestine can be damaged.
How often does malrotation and volvulus occur?

Intestinal malrotation occurs in one in 200 to one in 500 live births in the United States.
The majority of children with malrotation develop symptoms within the first year of life.
Intestinal malrotation is most often recognized in infancy, as most infants develop symptoms of
acute bowel obstruction within the first week of life. Malrotation is rarely seen in older children,
and when it does occur, symptoms may be absent or intermittent.
Some people who have malrotation go through their entire life without having any symptoms and
are never diagnosed. Others may not have symptoms until adolescence, or adulthood.
Which children are at risk for having malrotation?

Malrotation occurs equally in boys and girls. However, more boys become symptomatic by the
first month of life than girls.
From 30 to 70 percent of children with intestinal malrotation also have another congenital
malformation, including the following:

digestive system abnormalities

cardiac abnormalities

abnormalities of the spleen

abnormalities of the liver

Why is intestinal malrotation a concern?

A child with malrotation is likely to experience a twisting of the intestine known as a volvulus.
This will cause an obstruction, preventing food from being digested normally. The blood supply
to the twisted part of the intestine can also be cut off, which can lead to the death of that segment
of the intestine.
Ladd's bands, formed between the cecum and the intestinal wall, can also create a blockage in the
duodenum, preventing food from being digested.

A child can become dehydrated quickly when intestinal blockage occurs.


What are the symptoms of malrotation and volvulus?

The following are the most common symptoms of malrotation and volvulus. However, each
individual may experience symptoms differently. When the intestine becomes twisted, or
obstructed by Ladd's bands, the symptoms may include:

vomiting bile (green digestive fluid)

drawing up the legs

abdominal pain

abdominal distention (the abdomen becomes swollen)

diarrhea

constipation

rectal bleeding

failure to thrive

rapid heart rate

rapid breathing

bloody stools

The symptoms of malrotation and volvulus may resemble other conditions or medical problems.
Consult your child's physician for diagnosis.
How is malrotation and volvulus diagnosed or evaluated?

In addition to a physical examination and medical history, diagnostic procedures for malrotation
and volvulus may include various imaging studies (tests that show pictures of the inside of the
body). These are performed to evaluate the position of the intestine, and whether it is twisted or
blocked. These tests may include:

blood tests - used to check electrolytes.

stool guaiac - used to detect blood in stool samples.

computed tomography scan (CT or CAT scan) - a diagnostic imaging procedure using
a combination of x-rays and computer technology to produce cross-sectional images
(often called slices), both horizontally and vertically, of the body. A CT scan shows
detailed images of any part of the body, including the bones, muscles, fat, and organs. CT
scans are more detailed than general x-rays.

abdominal x-ray - a diagnostic test which may show intestinal obstructions.

barium swallow / upper GI test - a procedure performed to examine the intestine for
abnormalities. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the
inside of organs so that they will show up on an x-ray) is swallowed. An x-ray of the
abdomen may show an abnormal location for the small intestine, obstructions
(blockages), and other problems.

barium enema - a procedure performed to examine the intestine for abnormalities. A


fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs
so that they will show up on an x-ray) is given into the rectum as an enema. An x-ray of
the abdomen may show that the large intestine is not in the normal location.

Treatment for malrotation and volvulus:

Specific treatment for malrotation and volvulus will be determined by your child's physician
based on the following:

the extent of the problem

your child's age, overall health, and medical history

the opinion of the surgeon and other physicians involved in your child's care

expectations for the course of the problem

your opinion and preference

Malrotation of the intestines is not usually evident until the intestine becomes twisted (volvulus)
or obstructed by Ladd's bands and symptoms are present. A volvulus is considered a lifethreatening problem, because the intestine can die when it is twisted and does not have adequate
blood supply.
Children may be started on IV (intravenous) fluids to prevent dehydration and antibiotics to
prevent infection. A tube called a nasogastric (or NG) tube may be guided from the nose, through
the throat and esophagus, to the stomach to prevent gas buildup in the stomach.

A volvulus is usually surgically repaired as soon as possible. The intestine is untwisted and
checked for damage. Ideally, the circulation to the intestine will be restored after it is unwound,
and it will turn pink.
If the intestine is healthy, it is replaced in the abdomen. Since the appendix is located in a
different area than usual, it would be difficult to diagnose appendicitis in the future; therefore, an
appendectomy (surgical removal of the appendix) is also usually performed.
If the blood supply to the intestine is in question, the intestine may be untwisted and placed back
into the abdomen. Another operation will be done in 24 to 48 hours to check the health of the
intestine. If it appears the intestine has been damaged, the injured section may be removed.
If the injured section of intestine is large, a significant amount of intestine may be removed. In
this case, the parts of the intestine that remain after the damaged section is removed cannot be
attached to each other surgically. A colostomy may be done so that the digestive process can
continue. With a colostomy, the two remaining healthy ends of intestine are brought through
openings in the abdomen. Stool will pass through the opening (called a stoma) and then into a
collection bag. The colostomy may be temporary or permanent, depending on the amount of
intestine that needed to be removed.

Click Image to Enlarge


Will my child have problems in the future?

The majority of children with malrotation who experienced a volvulus do not have long-term
problems if the volvulus was repaired promptly and there was no intestinal damage.
Children with intestinal injury who had the damaged part removed may have long-term
problems. When a large portion of the intestine is removed, the digestive process can be affected.
Nutrients and fluids are absorbed from food in the small intestine. Removing a large segment of
the intestine can prevent a child from getting adequate nutrients and fluids. In this case, nutrition
may need to be supplemented with long-term, high-calorie IV (intravenous) solutions given
through special IV catheters.
he embryo is initially a flat disc surrounded by the umbilical ring, defined histologically by the
junction of the cylindrical epiblast epithelium and the cuboidal hypoblast epithelium. The

epiblast becomes either neuroectoderm or surface epithelium, and the hypoblast becomes the
inner epithelium of gut-derived organs (endoderm). A third germ layer, the mesoblast, appears
coincident with growth of the embryonic disc. As it elongates, longitudinal enfolding of its
lateral walls creates the appearance of a cylinder. At this stage, a recognizable body plan can be
discerned.
Several processes combine to form the mesoblast cell layer:

Apoptotic cell death with disruption of the epithelial basement membrane

Phagocytosis of the dead cells with enlargement of the intercellular space

Migration of ectoderm cells from the epithelial layer to the mesodermal layer

These processes take place in 3 areas:

The primitive streak, a groove-like structure in the dorsocaudal portion of the embryo

The neural crest, located in the cranial half of the embryo delineated by the transition of
neuroectoderm and surface epithelium

The umbilical ring

Proliferation of the neuroectoderm and underlying mesoderm pushes the embryonic disc above
the umbilical ring and the contained yolk sac like a sprouting mushroom. Simultaneously, the
embryo folds ventrally, separating the thoracic and abdominal cavities from the extraembryonic
coelom. The amniotic cavity bulges over the embryo; and the amnion attaches to the yolk sac and
the connecting stalk to form the umbilical cord. Caudal folding of the embryo incorporates the
proximal yolk sac into the hindgut and the allantois (a diverticulum of the yolk sac) into the
urogenital sinus. The cloacal membrane covers the openings of the hindgut and urogenital sinus;
and the perineum lies between these openings. The primitive gut and the urogenital sinus
elongate, whereas the adjacent mesoderm coalesces in the midline forming the urorectal septum.
In summary, the human embryo initially has 2 layers and looks like a disc. As it acquires a third
cell layer, it becomes cylindrical; it then elongates and invaginates over the umbilical ring. The
body folds (cephalic, caudal, lateral) centrally fuse, where the amnion invests the yolk sac.
Defective development at this critical location results in a spectrum of abdominal wall defects.
By the sixth week of intrauterine life, rapid growth of the midgut causes it to herniate through the
umbilical ring. The abdominal cavity has sufficiently enlarged to accommodate the midgut by the
tenth week of life. Rotation and fixation of the duodenal C loop and the proximal colon occur
when the intestine returns to the abdominal cavity. Because this process cannot take place in
babies with abdominal wall defects, they risk developing midgut volvulus.
Pathogenesis of omphalocele and gastroschisis

Abdominal wall defects result from failure of the mesoderm to replace the body stalk.
Embryonic dysplasia, decreased apoptotic cell death, and inadequate mesodermal development
result in enlargement of the diameter of the umbilical ring. Rather than investing the yolk sac and
body stalk centrally at the umbilicus, the amnion remains attached to the margins of the body
wall, creating a persistent communication between the intra-embryonic body cavity and the
extra-embryonic coelom.
In babies with omphalocele (see the images below), failure of central fusion at the umbilical ring
due to defective mesodermal growth causes incomplete closure of the abdominal wall and
persistent herniation of the midgut.
The abdominal viscera are contained in a translucent sac, which is composed of
amnion, Wharton jelly, and peritoneum. The umbilical vessels radiate onto the wall
of the sac. In 50% of cases, the liver, spleen, and ovaries or testes accompany the
extruded midgut.

Defective mesenchymal development at the junction of the body stalk and abdominal
wall, resulting in increased abdominal pressure that may cause the dysplastic abdominal
wall to rupture.

Abnormal involution of the right umbilical vein or a vascular accident involving the
omphalomesenteric artery may cause localized weakness and subsequent rupture.

Rupture of a small omphalocele, absorption of the sac, and growth of skin between the
resultant opening and the umbilical cord has been chronicled on prenatal ultrasonography.

History

Infants with gastroschisis and omphalocele can be identified by prenatal


ultrasonography.19

Defects in other organ systems may also be diagnosed, and chromosomal


abnormalities may be discovered by amniocentesis.

See Work-up.

Physical

Omphalocele

In an omphalocele, the diameter of the abdominal wall defect is 4-12 cm; it


may be centrally located or in the epigastrium or the hypogastrium.

With a large omphalocele, dystocia may occur and result in injury to the
baby's liver.

The omphalocele sac is ruptured in 10-20% of cases; rupture may occur in


utero or during delivery.

Babies with the Beckwith-Wiedemann syndrome (ie, exomphalos,


macroglossia, and gigantism) have coarse, rounded facial features;
hyperplasia of the pancreatic islet cells with hypoglycemia; visceromegaly;
and genitourinary abnormalities (see the image below). Their incidence of
developing Wilms tumors and liver tumors (hepatoblastoma) and
adrenocortical neoplasms is also increased. Surveillance ultrasonography is
indicated.

The components of the pentalogy of Cantrell include epigastric omphalocele, cleft


sternum, anterior diaphragmatic hernia (Morgagni), absent pericardium, and cardiac
defects (ectopia cordis and ventricular septal defects). See the image below.

Babies with giant omphaloceles have large, centrally located abdominal wall defects. The
liver is ectopic, located outside the abdominal cavity, within the omphalocele sac. The
abdominal and thoracic cavities are small and undeveloped. Restrictive lung disease and
pulmonary hypoplasia are associated with the thoracic cavity's diminutive size. Operative
closure is best accomplished in stages to avoid generating excessive intra-abdominal
pressure.20

Gastroschisis

The abdominal wall defect is fairly uniform in size ( 5 cm) and location (to the right of
the umbilical cord).

The amount of inflammation, edema and turgor of the intestines, as well as the size of the
abdominal cavity, may vary and determines whether reduction of the extruded intestine
and closure of the abdominal wall can be accomplished primarily or in stages.
Inflammation may so distort the appearance of the bowel that it may be difficult to
determine if associated intestinal atresia is present (see the images below).

When primary closure of the abdominal wall defect is not possible, a silo is
created to contain the intestine until the inflammation has resolved and it
softens and becomes pliable. Reduction can then be accomplished. Correction
of an associated intestinal atresia is best delayed until several weeks after
closure of the abdominal cavity, usually with creation of an enterostomy.

Intestinal dysfunction may take as long as 4-6 weeks to resolve.

When gastroschisis is identified antenatally, serial ultrasonography is


performed to identify impending threats to the intestine; amniocentesis is
used to monitor lung maturity and determine when to induce labor. 21,7,22,23,24

Causes

Folic acid deficiency, hypoxia, and salicylates cause rats to develop abdominal wall defects, but
the clinical significance of these experiments is conjectural.
Elevation of maternal serum alpha-fetoprotein (MSAFP) is associated with omphalocele and
gastroschisis. An elevated MSAFP level warrants ultrasonography to determine if structural
abnormalities are present in the fetus. If the study is suspicious for an omphalocele,
amniocentesis is indicated to determine any associated genetic abnormality.
P olyhydramnios occurs in association with fetal gastroschisis and intestinal atresia. If confirmed
during fetal ultrasonography, the finding should prompt an expeditious investigation and referral
to a tertiary care facility, where the newborn can receive surgical care.
Laboratory Studies

Elevation of maternal serum alpha-fetoprotein (MSAFP) is associated with abdominal wall


defects.
MSAFP levels are greater in gastroschisis than in omphalocele.
MSAFP levels are also increased in spina bifida, which additionally increases the ratio of
acetylcholinesterase and pseudocholinesterase.14
Imaging Studies

In utero ultrasonography may demonstrate a structural defect that is associated with a karyotypic
abnormality.25
The suspicion that the baby has a genetic abnormality should be confirmed with amniocentesis.
Fetal echocardiography may identify a cardiac abnormality.
If serial ultrasonography shows dilatation and thickening of the intestine in a baby with
gastroschisis, delivery should occur as soon as appropriate. Once amniocentesis demonstrates
lung maturity, delivery should be expeditiously induced.
Postnatal evaluation to determine other congenital anomalies should occur prior to surgical
intervention in those infants with omphalocele.
Medical Care

Intestinal inflammation

Intestinal inflammation may occur with either gastroschisis or rupture of an


omphalocele.

The eviscerated intestine may appear entirely normal, as if a surgeon had


made a fresh laparotomy incision, or may be grossly abnormal in appearance
with shortened length and surface exudate. Function follows appearance;
these babies may tolerate feedings immediately or may require prolonged
parenteral nutrition because of intestinal dysmotility and malabsorption. The
extent of intestinal dysfunction depends on the magnitude of the
inflammatory and ischemic injury caused by exposure to the amniotic fluid
and compression of the herniated intestinal mesentery by the abdominal wall
defect.

The inflamed intestine is thick and edematous, the loops of bowel are matted
together, and the mesentery is congested and shortened.

Histology reveals atrophy of the myenteric ganglion cells.

The inflamed intestine is dysmotile, with prolonged transit time and


decreased absorption of carbohydrate, fat, and protein. These deleterious
effects remit as the inflammation resolves, usually in 4-6 weeks. During this
time, total parenteral nutrition (TPN) is required.

Intact omphalocele

Neonates with intact omphaloceles are usually in no distress unless


associated pulmonary hypoplasia is present.

The baby should be carefully examined to detect any associated problems,


such as Beckwith-Wiedemann syndrome, chromosomal abnormalities,
congenital heart disease, or any other associated malformations.

Maintenance intravenous (IV) fluids are administered, and the omphalocele


sac is covered with a nonadherent dressing, such as Xeroform, wrapped with
Kerlix, and then covered with Saran wrap to preserve body heat and
moisture.

Prophylactic antibiotics may be given preoperatively if an associated


intestinal anomaly is suspected.

Closure of a small or moderate-sized omphalocele is accomplished without


difficulty.

A baby with a ruptured omphalocele is treated the same way as a baby with
gastroschisis.18

Closure of giant omphaloceles containing the liver is always challenging. 26,27,28

Gastroschisis

Respiratory distress in a neonate with gastroschisis may respond to gastric


decompression, although endotracheal intubation may still be needed.

Fluid, electrolyte, and heat losses must be minimized and corrected. Because
of significant ongoing fluid losses with an open abdominal wall defect,
administer an IV fluid bolus (20 mL/kg lactated ringer solution or normal
saline), followed by 10% dextrose/0.25 normal sodium chloride solution at 2-3
times the baby's maintenance fluid rate. This will also help compensate for
postoperative third space loses.

The baby should be placed under a radiant heater. The exposed intestines
may be covered with a moist laparotomy pad; and the eviscerated intestine
should be situated on top of the baby's abdomen and wrapped with Kerlix in a
way that avoids applying traction upon the bowel mesentery.

A urinary catheter should be inserted to monitor urine output and asses the
efficacy of fluid resuscitation. A rectal examination should be performed to
dilate the anal canal. Reduction of the herniated viscera is facilitated by
evacuating meconium from the sigmoid colon; this can be easily
accomplished during the operative procedure.

Broad-spectrum antibiotics are administered to prevent contamination of the


peritoneal cavity.

A central venous line is placed intraoperatively to provide parenteral


nutrition, thereby minimizing catabolic protein loss during the period of GI
dysfunction.21,7,22

Surgical Care

Omphalocele
Ambroise Pare, a 17th-century French surgeon, accurately described the dire consequences of
opening the omphalocele sac to obtain closure of the abdominal wall. His experience encouraged
conservative treatment such as squeezing the sac to reduce the herniated viscera or painting the
sac with escharotic agents to promote contraction and epithelization. This approach prolongs
healing; during this time, the sac may rupture and a wound infection may result. Even if
complications do not occur, the healing of such a large wound exacts a significant metabolic and
nutritional toll.
Healing may be hastened by mobilizing skin flaps to cover the omphalocele sac (Gross
technique); however, this results in the creation of a large ventral hernia.
In 1967, Schuster developed a technique that more expeditiously treats babies with giant
omphaloceles. It may also be used to correct ventral hernias created by skin flap closure.

A circumferential incision is made along the skin-omphalocele junction; the


omphalocele membrane is left intact. The incision is extended in the midline
and the rectus fascia is exposed from xiphoid to pubis. Teflon sheets are
sutured along the edge of the fascia and approximated over the omphalocele
sac.

Reduction is effected by gradually pulling the Teflon sheets and attached


rectus muscles over the liver and suturing them in the midline. At an
appropriate time, the Teflon sheets are removed, the omphalocele sac is
excised, and a DualMesh patch (Gore-Tex) is sutured circumferentially to the
remaining fascial defect.

The patch is made larger than the abdominal wall defect giving the anterior
abdominal wall a concave appearance and lessening pressure on the
diaphragm. Skin flaps are laterally mobilized and approximated over the
patch.

The patch is attached to the margins of the abdominal wall defect, superiorly
to the costal arch, inferiorly to the pubis, and laterally to the rectus fascia.
Growth of the abdominal wall is stimulated by the increased intra-abdominal
pressure, elevating the costal arch, and expanding the thoracic cavity.

A Gore-Tex patch requires skin coverage, whereas an AlloDerm patch


(acellular human dermis) does not because it is vascularized by the
underlying liver. It may be left exposed and dressed with a topical
antimicrobial, such as mupirocin ointment. Like a partial thickness burn
wound, it is epithelialized. This is advantageous for wound healing; because it
is vascularized, the patch is no longer a foreign body that may become
infected and require removal. However, a disadvantage of AlloDerm is that it
is not rigid, and a ventral hernia develops that ultimately requires repair with
a rigid patch (see the images below).29,30

Closure of a giant omphalocele with an AlloDerm patch.


[ CLOSE WINDOW ]

Closure of a giant omphalocele with an AlloDerm patch.

Two months after implantation: epithelialization of the AlloDerm


patch.
[ CLOSE WINDOW ]

Two months after implantation: epithelialization of the AlloDerm


patch.

Eight months after implantation: epithelization is nearly complete,


but a huge ventral hernia has developed.
[ CLOSE WINDOW ]

Eight months after implantation: epithelization is nearly complete,


but a huge ventral hernia has developed.

Gastroschisis
In 1969, Allen and Wrenn adapted Schuster's technique to treat gastroschisis.

Silastic sheets are sutured to the full thickness of the extended abdominal
wall defect and closed over the eviscerated intestine, whose reduction is
facilitated by stretching the abdominal musculature, emptying the stomach
and bladder, and manually evacuating the colon.

The major factor permitting reduction of the extruded viscera is resolution of


the intestinal inflammation; in time the rigid, congealed mass is transformed
into multiple soft, pliable loops of intestine, which can fit into the nooks and
crannies of the abdominal cavity.31,32

Too tight a closure of the abdominal wall must be avoided, for this limits
excursion of the diaphragm and necessitates increased inspiratory pressure
to compensate for the increase in ventilatory resistance. In general, peak
inspiratory pressures (PIPs) higher than 25 mm Hg should be avoided. High-

frequency oscillatory ventilation may be an alternative to conventional


ventilation if intra-abdominal pressures are markedly increased. 33

In addition, tight closure of the abdominal cavity impedes venous return to


the heart, which compromises cardiac output and decreases renal blood flow
and glomerular filtration rate. Renal vein thrombosis and renal failure may
ensue. Diminished mesenteric blood flow compounds the risk of necrotizing
enterocolitis (NEC) because the intestine of these infants is immature
immunologically and the dysmotility leads to stagnation and bacterial
overgrowth.34

The intra-abdominal pressure can be measured by connecting a manometer


to a Foley catheter or a nasogastric tube. The central venous pressure,
intravesical pressure, and the intragastric pressure should not exceed 20 cm
H 2 O to avoid development of the abdominal compartment syndrome. 13

Consultations

Neonatologists and pediatric surgeons share the responsibility for the treatment of these babies.
Consultation with a cardiologist, pulmonologist, gastroenterologist, and geneticist may be
indicated.
Diet

Babies with omphaloceles have normal intestine and do not require special formulas. The
occasional intestinal atresia, perhaps associated with a patent omphalomesenteric duct, is not
usually associated with short gut.
Babies with gastroschisis, on the other hand, may have sustained injury to the intestine and
require elemental or protein hydrolysate formulas, lactose-free carbohydrates, and medium-chain
triglycerides.
Babies with short-gut syndrome absorb medium-chain triglycerides more readily than long-chain
triglycerides; however, the latter are more valuable as regards gut adaptation.