Prenatal diagnosis of esophageal, gastrointestinal, and anorectal atresia

Author: Dorothy I Bulas, MD

Section Editors: Deborah Levine, MD, Louise Wilkins-Haug, MD, PhD
Deputy Editor: Vanessa A Barss, MD, FACOG

Contributor Disclosures

All topics are updated as new evidence becomes available and our peer review process is
complete.
Literature review current through: Dec 2018. | This topic last updated: Sep 10, 2018.

INTRODUCTION — Congenital atresia of the esophagus, small or large bowel, or anorectum

results in partial or complete obstruction, which may have clinical manifestations in utero.
The ability to diagnose these atresias prenatally is influenced by the site of obstruction, the
presence of associated anomalies, and the gestational age at the time of imaging.

This topic will discuss prenatal evaluation and obstetrical management of fetal esophageal,
small/large bowel, and anorectal atresia. Postnatal clinical manifestations, diagnosis,
evaluation, and management are reviewed separately. (See "Congenital anomalies of the
intrathoracic airways and tracheoesophageal fistula" and "Intestinal atresia" and "Congenital
aganglionic megacolon (Hirschsprung disease)".)

IMAGING THE FETAL GASTROINTESTINAL TRACT

Normal ultrasound findings — Normal ultrasound findings of the various parts of the fetal
gastrointestinal system depend on the gestational age at examination.

Esophagus — The normal fetal esophagus is collapsed and typically not visualized

throughout pregnancy. The amount of fluid in a swallow is too small to be seen in the
esophagus unless fluid accumulates because of an atresia or stricture.

Stomach — A fluid-filled stomach should be detectable sonographically in most second-

and third-trimester fetuses since the fetus begins to swallow amniotic fluid by 11 to 14
weeks of gestation.

Nonvisualization of the stomach on a single examination may be due to gastric emptying,

but persistent nonvisualization on serial fetal ultrasound examinations is generally due to
an abnormality (image 1). (See 'Differential diagnosis of a nonvisualized/small stomach'
below.)

Bowel — Rapid growth of the intestines and liver occurs during the fourth to fifth
postconceptional week of development. During the sixth week of postconceptional
development (or eight weeks from first day of the last menstrual period), the abdominal
cavity temporarily becomes too small to accommodate all of its contents, resulting in
protrusion of the intestines into the residual extraembryonic coelom at the base of the
umbilical cord. This temporary herniation is called physiologic midgut herniation and is
sonographically evident between the 9th and 11th postmenstrual weeks (image 2).
Reduction of this hernia occurs by the 12th postmenstrual week; beyond the 12th week, a
midgut herniation is no longer normal [1].

The bowel lumen appears collapsed in the first trimester. Fluid may be seen in the lumen
beginning at approximately 13 weeks of gestation and is usually seen by 20 weeks. In the
second and third trimester, normal small bowel loops generally do not exceed 7 mm in
diameter or 15 mm in length. Colon diameter increases during pregnancy, achieving
diameters up to 23 mm at term [2,3]. Tables of normal lumen diameters across gestation
are available [2,4]. Dilated loops suggest some degree of obstruction.

Peristalsis can be observed as early as 18 weeks of gestation. Obstruction may be

accompanied by vigorous peristalsis.

The bowel is variably echogenic, at times similar in echogenicity to adjacent liver, spleen,
and kidneys. High-resolution linear transducers can be helpful in differentiating these
organs. Echogenicity may be due to accumulation of meconium, which accumulates in the
bowel throughout the second and third trimesters [2,4-7]. Excessively echogenic bowel
(defined as bright as bone) in the second trimester can be a normal finding or a marker of
an abnormality, such as cystic fibrosis, trisomy 21, congenital infection with
cytomegalovirus or parvovirus, or severe intrauterine growth restriction. (See "Fetal
echogenic bowel".)

The colon is best visualized after 24 weeks of gestation as hypoechoic regions along the
periphery of the abdomen. Separate loops of small bowel are distinguishable after 28
weeks of gestation.

Diagnostic performance of ultrasound imaging — Prenatal sonographic diagnosis of

gastrointestinal atresia is challenging since obstruction may not become evident
sonographically until the late second trimester, after the typical time of a fetal anatomic
survey (18 to 20 weeks of gestation). It can also be difficult to differentiate dilated small
bowel loops from colon or megaureters sonographically.

The performance of ultrasound for prenatal diagnosis of gastrointestinal obstruction was

illustrated in a study of routine ultrasonographic examination of an unselected population
[8]. The overall prenatal detection rate of gastrointestinal obstruction (atresia, stenosis,
absence, or fistula) was 34 percent, of which 40 percent was detected at ≤24 weeks of
gestation. The detection rate was 52 percent (33 out of 64) for duodenal obstruction, 40
percent (27 out of 68) for small intestine obstruction, 29 percent (28 out of 95) for large
intestine obstruction, and 25 percent (31 out of 122) for esophageal obstruction. The
detection rate for anal atresia is much lower: 6 to 8 percent [8,9].

Others have also reported poor sensitivity in prenatal ultrasonographic diagnosis of large
bowel lesions and misdiagnosis between small and large bowel obstruction [10]. In addition
to low sensitivity, ultrasound is not able to accurately identify the number and location of
obstructions and has limited ability for assessing the viability of unobstructed distal bowel
[5].

Indications for magnetic resonance imaging — Magnetic resonance imaging may be used

to confirm or clarify suspected gastrointestinal abnormalities on ultrasound examination if
this information is important for managing the pregnancy. Fetal bowel is well visualized by
magnetic resonance imaging (image 3) and easily differentiated from adjacent liver, spleen,
kidneys, bladder, and gallbladder. Meconium is also well visualized [11,12]. The normal
esophagus, stomach, and duodenum should always be filled with T2 hyperintense fluid
(amniotic fluid).

GENERAL PRINCIPLES OF PREGNANCY MANAGEMENT — It is unclear whether prenatal

diagnosis of esophageal, gastrointestinal, or anorectal atresia improves the prognosis.
However, early prenatal diagnosis provides an opportunity for parental counseling and
preparation, screening for associated anomalies, and the option for pregnancy termination
or delivery at a setting with appropriate personnel and facilities for newborn care.

Many of these pregnancies are complicated by polyhydramnios. The management of

pregnancies complicated by polyhydramnios varies according to the severity and is
discussed separately. (See "Polyhydramnios".)

After diagnosis, we perform periodic ultrasound examinations to look for any change in the
appearance of the atresia or associated anomalies and to assess interval fetal growth and
amniotic fluid volume. Nonstress tests or biophysical profiles are indicated in pregnancies
in which the risk of antepartum fetal demise is increased, such as a fetal anomaly
associated with growth restriction. (See "Overview of antepartum fetal surveillance".)

Atresia alone is not an indication for cesarean delivery in the absence of a standard
obstetric indication. However, if the abdominal circumference is much larger than the head
circumference, cesarean delivery should be considered due to the risk of fetal abdominal
dystocia. Delivery should be planned at a center that has an appropriate level of neonatal
support.

ESOPHAGEAL ATRESIA — Esophageal atresia refers to a congenitally interrupted

esophagus; one or more fistulae may occur between the malformed esophagus and the
trachea. (See "Congenital anomalies of the intrathoracic airways and tracheoesophageal
fistula", section on 'Tracheoesophageal fistula and esophageal atresia'.)
There are five types of tracheoesophageal anomalies [13]:

● Type A – Esophageal atresia without tracheoesophageal fistula (10 percent)

● Type B – Esophageal atresia with a tracheoesophageal fistula to the proximal

esophageal segment (<1 percent)

● Type C – Esophageal atresia with a tracheoesophageal fistula to the distal esophageal

segment (85 percent)

● Type D – Esophageal atresia with tracheoesophageal fistula to both the proximal and
distal esophageal segments (<1 percent)

● Type E – Tracheoesophageal fistula with no esophageal atresia (4 percent)

When to suspect esophageal atresia — A standard obstetric sonogram in the second or

third trimester includes an evaluation of amniotic fluid volume and a fetal anatomic survey,
with assessment of the presence, size, and site of the stomach [14]. Polyhydramnios and a
nonvisualized or small stomach (image 1), whether due to partial obstruction or imaging of
gastric secretions, are the two key abnormalities that should prompt consideration of
esophageal atresia.

Ultrasound findings

● Esophageal atresia without a fistula (Type A esophageal atresia) is characterized by

the following three findings [15,16]:

• Polyhydramnios – Polyhydramnios may not develop until the late second trimester
but is present in 100 percent of cases by the third trimester

• Nonvisualized stomach or collapsed stomach (two parallel echogenic lines in the

upper abdomen [17])

• Dilated proximal esophageal pouch in the neck or mediastinum

● Esophageal atresia with a tracheoesophageal fistula (TEF) can be difficult to diagnose

prenatally because the fistula allows fluid to flow into the stomach; therefore, the
amniotic fluid and stomach volumes may be normal and the proximal esophageal
pouch may be normal or transiently dilated (image 4). Polyhydramnios occurs in
approximately one-third of fetuses with esophageal atresia plus distal TEF [18].

Differential diagnosis of a nonvisualized/small stomach — Nonvisualization of the fetal

stomach can be due to a recently emptied stomach, so repeated examination is necessary.
Failure to visualize the fetal stomach over serial examinations strongly suggests
esophageal atresia [18]. The diagnosis should still be suspected if the stomach is
visualized but collapsed or small, especially if polyhydramnios is present, since gastric
juices can accumulate in and distend the stomach [8,17,18].

Other causes of a nonvisualized or small stomach include [7]:

● Mechanical obstruction to swallowing. The neck and pharynx should be examined for
masses that could compress the esophagus or throat and thus obstruct swallowing.

● Neuromuscular dysfunction that impairs swallowing. Sonographic observation of

swallowing and normal fetal tone help to exclude a neuromuscular cause.

● Lack of amniotic fluid (severe oligohydramnios) for the fetus to swallow. (See
"Oligohydramnios", section on 'Etiology'.)

● Abnormal stomach location. A diaphragmatic defect can displace the stomach into the
chest, an abdominal wall defect can displace the stomach externally, and situs inversus
displaces the stomach to the right upper quadrant. (See "Congenital diaphragmatic
hernia: Prenatal issues" and "Omphalocele" and "Gastroschisis".)

● Congenital microgastria. This is a rare malformation that can be isolated or part of

multiple anomalies (syndromic microgastria) [19].

Associated anomalies — The fetus should be assessed for associated anomalies, which

are present in up to 50 percent of fetuses with esophageal atresia [13,20].

Cardiac malformations are the most common (25 percent) associated abnormality and
result in the highest morbidity and mortality [20].

Esophageal atresia with a tracheoesophageal fistula is often related to the VACTERL

association (vertebral, anal atresia, cardiac, tracheoesophageal fistula, renal, limb
abnormalities); a two-vessel umbilical cord is common [18,21].

Prenatal diagnostic evaluation — We suggest echocardiography in all cases of suspected

esophageal atresia, given the increased prevalence of cardiac malformations. The finding
of a ventricular septal defect or pulmonary stenosis, which may not be seen on a four-
chamber view, helps to confirm that VACTERL association is present when the diagnosis is
unclear [20].

Magnetic resonance imaging (image 5) may be useful in selected cases to identify

associated anomalies that are suspected but not definitively diagnosed by ultrasound or
echocardiography, such as pulmonary atresia or cranial anomalies, if this information is
important for managing the pregnancy [22].
We offer amniocentesis for diagnostic genetic testing (microarray). Six to 10 percent of
fetuses with esophageal atresia will have karyotypic abnormalities, particularly trisomy 21
or 18 [23]. (See "Prenatal genetic evaluation of the fetus with anomalies or soft markers".)

Postnatal management and outcome — (See "Congenital anomalies of the intrathoracic

airways and tracheoesophageal fistula".)

DUODENAL ATRESIA — Duodenal atresia and stenosis are the most common types of
intestinal obstruction detected in the fetus [24]. Duodenal atresia accounts for up to 75
percent of intestinal obstructions and has three phenotypes [25]:

● Type 1 – Membranous mucosal atresia with an intact muscular wall (69 percent)

● Type 2 – Short fibrous cord which connects the two ends of the atretic duodenum

● Type 3 – Complete separation of the two ends of the duodenum plus biliary tract
anomalies

When to suspect duodenal atresia — A standard obstetric sonogram in the second or third
trimester includes an evaluation of the presence, size, and site of the stomach [14].
Observation of two fluid-filled structures in the upper abdomen is the key abnormality that
should prompt consideration of duodenal atresia.

The diagnosis is likely to be missed if the duodenum does not become dilated because it is
stenotic (ie, incompletely obstructed) rather than atretic or if fetal swallowing is inhibited,
such as with coexisting esophageal atresia [15,26-28].

Ultrasound findings — Duodenal atresia is characterized by a dilated fluid-filled stomach

adjacent to a dilated proximal intestinal segment (termed "double bubble") (image 6); the
distal intestinal segment is empty [29].

The diagnosis is most commonly made in the third trimester when both the stomach and
the duodenum are likely to be dilated. Early in the second trimester, dilation of both
structures may not be present, which would prevent early prenatal diagnosis.
Polyhydramnios develops in up to 50 percent of cases, typically in the mid to late second
trimester [30-32].

Differential diagnosis of a "double bubble" — Differential diagnosis includes annular

pancreas with extrinsic compression of the duodenum, intestinal malrotation with Ladd's
bands, gastrointestinal duplication cysts, preduodenal portal vein, and choledochal cyst.
Documenting that the second fluid-filled structure is contiguous with the fluid-filled
stomach helps to differentiate duodenal atresia from a duplication or choledochal cyst,
which would not be contiguous and may be located far from the stomach [33]. The double
mucosa sign noted by ultrasound postnatally in duplication cysts may not be visualized
prenatally.

Associated anomalies — The fetus should be assessed for associated anomalies, which

are present in more than 50 percent of fetuses with duodenal atresia [34]. Trisomy 21 is the
most frequent cause, occurring in up to 30 percent of cases [35].

Duodenal atresia can be part of the VACTERL association (vertebral, anal atresia, cardiac,
tracheoesophageal fistula, renal, limb).

Twenty to 30 percent of fetuses with duodenal atresia have congenital heart disease [32].

Duodenal atresia can be associated with annular pancreas.

Rarely, congenital duodenal and jejunal obstruction has been associated with one or more
umbilical cord ulcers 1 to 5 cm in diameter [36]. Rupture of umbilical vessels in an ulcer
with severe hemorrhage into the amniotic cavity leading to fetal or neonatal death has been
reported.

Prenatal diagnostic evaluation — We suggest echocardiography in all cases of suspected

duodenal atresia, given the increased prevalence of cardiac malformations. The finding of a
ventricular septal defect or pulmonary stenosis, which may not be seen on a four-chamber
view, helps to confirm that VACTERL association is present when the diagnosis is unclear.
Magnetic resonance imaging may be useful in selected cases to identify associated
anomalies that are suspected but not definitively diagnosed by ultrasound, such as
pulmonary or cranial anomalies, if this information is important for managing the
pregnancy [28].

We offer amniocentesis for diagnostic genetic testing (microarray) given the high incidence
to trisomy 21. (See "Prenatal genetic evaluation of the fetus with anomalies or soft
markers".)

Postnatal management and outcome — (See "Intestinal atresia".)

JEJUNAL AND ILEAL ATRESIA — Jejunal and ileal atresias are complete obstructions of
the small bowel lumen; they are more common than small bowel stenosis. Atresias can
occur anywhere along the small bowel, but the most common sites are the proximal
jejunum (30 percent) and distal ileum (35 percent). Multiple atretic sites occur in up to 6
percent of cases [37]. They may be caused by ischemia, with secondary complications of
volvulus and/or meconium peritonitis [38]. (See "Intestinal atresia".)

Intestinal atresias are classified as:

 ● Type 1 – Intraluminal diaphragm in continuity with the muscular coats of the proximal
and distal segments (32 percent).

● Type 2 – Fibrotic cord connecting two blind ending bowel segments (25 percent).

● Type 3a – Complete separation of blind ending loops (15 percent).

● Type 3b – Mesenteric defect and associated apple peel deformity. The terminal ileum
is perfused from single ileocolic artery (11 percent).

● Type 4 – Multiple atresias (6 percent).

When to suspect small bowel atresia — A standard obstetric sonogram in the second or
third trimester includes an evaluation of amniotic fluid volume and a fetal anatomic survey
with assessment of the fetal abdomen (stomach, kidneys, bladder, umbilical cord insertion
site) [14]. Examination of the bowel is not a focus of the routine anatomy scan; however,
dilated bowel loops and polyhydramnios may be noted and prompt consideration of a small
bowel atresia.

Findings of small bowel obstruction are rarely seen before 18 weeks of gestation and can
be difficult to image before 24 weeks of gestation [39]. In the third trimester, bowel loops
become progressively more dilated and have vigorous peristalsis; thus, they are easier to
see.

Ultrasound findings — Fetal bowel obstruction is suggested by (image 7) [7]:

● Dilated bowel loops (>15 mm in length and 7 mm in diameter) and/or

● Mural thickness greater than 3 mm

● Polyhydramnios

The abdomen may be distended, resulting in a decrease in the ratio of head circumference
to abdominal circumference. If meconium ileus is present, increased bowel echogenicity
may be noted [9].

A few dilated loops of bowel suggest a jejunal obstruction, whereas multiples dilated bowel
loops suggest a more distal ileal obstruction. It is difficult differentiating an isolated
proximal atresia from multiple atresias that involve both the jejunum and ileum.

Polyhydramnios is seen in <50 percent of cases of jejunal obstruction and rarely with more
distal obstruction. In a series of 28 patients with a prenatal diagnosis of small bowel
atresia, 17 required delayed anastomosis with a prolonged hospital course while 11 had
direct anastomosis with shorter length of stay [40]. In the absence of other malformations,
the association of dilated bowel loops and polyhydramnios was highly predictive of severe
small bowel atresia requiring prolonged hospitalization (64.7 versus 9 percent).

Although dilated loops of bowel and polyhydramnios are diagnostic signs for small bowel
atresia, a systematic review found wide variation in both the sensitivity and specificity of
prenatal ultrasound in detecting jejunal and ileal atresia [41]. As an example, in one
retrospective study of 58 cases of jejunal or ileal atresia, sensitivity was 50 percent (95% CI
26.0-74.0) and specificity was 70.6 percent (95% CI 52.5-84.9) [42]. The presence of both
bowel dilatation ≥17 mm and polyhydramnios after 32 weeks of gestation slightly increased
sensitivity (66.7 percent, 95% CI 34.9-90.1) and specificity (80.0 percent, 95% CI 44.4-97.5).

Differential diagnosis of dilated abdominal tubular loops — The differential diagnosis for

dilated tubular loops within the fetal abdomen includes megaureters and abdominal
mesenteric cysts [11,43]. In addition, a variety of intestinal abnormalities can occur in
association with jejunal or ileal atresia (see 'Associated anomalies' below) or mimic
atresias. These include volvulus, meconium ileus/peritonitis, total colonic aganglionosis,
intestinal duplication cysts, and congenital chloride diarrhea [44].

Dilated ureters can mimic dilated bowel loops and should be closely evaluated to see if
there is any connection to the kidney or bladder. The presence of dilated renal pelvis and
calyces is a clue that the loops are ureters rather than bowel. Mesenteric cysts tend to be
circular or oval and do not show peristalsis, which helps to distinguish them from a dilated
bowel loop.

The whirlpool sign (clockwise wrapping of the superior mesenteric vein and the mesentery
around the superior mesenteric artery suggesting a whirlpool) and/or coffee bean sign
(dilated bowel loops with the appearance of a coffee bean) can suggest the presence of a
volvulus, which can be the reason for dilated bowel loops [45].

Secondary signs of bowel atresia include meconium peritonitis which can be the result of
meconium extravasation from a perforation at the site of atresia. This can lead to ascites,
meconium peritonitis, and the development of meconium pseudocysts (image 8). In these
cases, scattered peritoneal calcifications with posterior acoustical shadowing may be
noted [46,47]. (See "Overview of echogenic masses and calcification in the fetal abdomen",
section on 'Meconium pseudocyst' and "Overview of echogenic masses and calcification in
the fetal abdomen", section on 'Meconium peritonitis'.)

Congenital chloride diarrhea is a rare autosomal recessive cause of dilated bowel. It is

characterized by polyhydramnios and multiple dilated bowel loops which show peristalsis
[43,48]. The dilated bowel loops tend to be of uniform size and can be seen throughout the
fetal abdomen. By magnetic resonance imaging (MRI) low signal T1w fluid-filled loops of
bowel extend to the rectum [49]. Other fetal anomalies, ascites, and intraperitoneal
calcifications are not present.

Utility of MRI in differential diagnosis — Because meconium and bowel have different

signal characteristics, magnetic resonance imaging is useful for distinguishing diagnoses
related to meconium from other bowel and nonbowel disorders [50]. For example,
assessment of the size and meconium content of the sigmoid colon and rectum can help
differentiate dilated obstructed bowel from intestinal duplication cysts, mesenteric cysts,
and hydroureters. Meconium peritonitis can be diagnosed by visualization of extraluminal
fluid collections scattered through the abdomen. Small bowel dilatation with decreased
meconium in the rectum suggests a more complex diagnosis, such as cystic fibrosis [51]. In
a review of fetuses with small bowel or anorectal obstruction, 34 fetuses underwent both
ultrasound and MRI examinations and diagnostic accuracy was 84.4 percent [52].

In bowel obstruction, bowel loops proximal to the obstruction are dilated (13 to 30 mm)
[11,53,54]. The signal characteristics are variable depending on the gestational age and
location of obstruction. The bowel can be fluid-filled high signal T2w, meconium-filled high
signal T1w, or intermediate in signal. Distally, the rectum may contain less meconium and
thus decrease in size (2 to 7 mm) (image 9) [51,55].

The level of obstruction is suggested by the number of dilated loops and the number of
nondilated loops proximal to the dilated loops. The absence of loops distal to the level of
obstruction suggests multiple atresias [11]. One report described dilated loops with two
different signals in a case with two levels of atresia [56]. A small series of three atresias
also commented on the increasing echogenicity of bowel contents with more distal
obstruction [57].

In a series of 12 small bowel obstructions evaluated by ultrasound and MRI, a trend of

increasing complexity of bowel contents (increasing ultrasound echogenicity and high T1w
signal on MRI) corresponded to a distal level of obstruction. The size of the meconium-filled
rectum was another clue as to the etiology of the obstruction. All seven jejunal atresias and
one ileal atresia had small caliber meconium-filled colons (microcolon) but normal-sized
rectums. In contrast, three fetuses with cystic fibrosis and one fetus with jejunal and anal
atresia had microcolon and paucity of rectal meconium. Polyhydramnios was present in 9
of 12 cases [51].

Peritoneal calcifications may be present and are best noted by ultrasound [58].

Associated anomalies — The fetus should be assessed for associated anomalies, as

additional gastrointestinal anomalies occur in up to 45 percent of cases and may be the
cause of the atresia [59]. In one study, these anomalies included malrotation (23 percent),
meconium peritonitis (8 percent), microcolon (3 percent), duplication cysts (3 percent), and
esophageal atresia (3 percent). Volvulus has also been associated with atresias [38].

Small bowel atresia is secondary to meconium ileus in 10 percent of cases. In these cases,
impacted thick meconium obstructs the terminal ileum, resulting in perforation with
secondary ileal atresia and meconium peritonitis. Up to 15 percent of fetuses with cystic
fibrosis present with meconium ileus and up to 50 percent of these cases will be
complicated by an atresia, volvulus, perforation, and/or meconium pseudocysts [60,61].
(See "Cystic fibrosis: Clinical manifestations and diagnosis", section on 'Meconium ileus
and distal ileal obstruction'.)

Gastroschisis may facilitate bowel kinking, which may cause ischemic bowel injury
resulting in atresia (see "Gastroschisis"). Likewise, placental vascular abnormalities may
lead to fetal ischemic injury resulting in small bowel atresia [62].

As discussed above, in rare cases, congenital duodenal and jejunal obstruction has been
associated with one or more umbilical cord ulcers that have bled, leading to fetal or
neonatal death [36].

Prenatal diagnostic evaluation — Once the diagnosis of small bowel atresia is made, a

complete anatomic survey should be performed. If echogenic bowel is present, cystic
fibrosis DNA mutation analysis should be performed (see "Cystic fibrosis: Carrier
screening", section on 'Prenatal diagnosis'). While aneuploidy is unusual with isolated small
bowel atresia, diagnostic genetic testing is recommended if another fetal structural
anomaly is present or the patient requests such testing. (See "Prenatal genetic evaluation
of the fetus with anomalies or soft markers".)

Echocardiography is not performed routinely because the incidence of cardiac anomalies is

not increased relative to the general obstetric population [37].

Magnetic resonance imaging can be a useful in differential diagnosis if additional

information is important for establishing a diagnosis and managing the pregnancy. (See
'Differential diagnosis of dilated abdominal tubular loops' above.)

Postnatal management and outcome — (See "Intestinal atresia".)

COLONIC OBSTRUCTION — Colonic obstruction may be due to Hirschsprung disease,

anorectal malformations, or colonic atresia. It is often missed prenatally because fluid is
resorbed by the small bowel and colonic loops, which allows the small bowel and colon to
retain normal diameters despite distal obstruction.

Hirschsprung disease — Hirschsprung disease is one of the most common causes of

intestinal obstruction in the newborn. Aganglionosis of a segment of colon results in a
functionally obstructed distal segment with a dilated proximal segment that tapers at a
transition zone. (See "Congenital aganglionic megacolon (Hirschsprung disease)".)

Prenatal diagnosis is rare as obstructive symptoms and constipation typically develop only
after birth [63]. However, the disease may present in utero if the entire colon rather than a
segment is involved.

Total aganglionosis has been diagnosed in the third trimester based on polyhydramnios
and small bowel dilation [64-66]. While intraluminal calcifications (enteroliths) may develop
due to functional obstruction and precipitation of urates within the lumen and echogenic
bowel may be present, neither finding is specific for this diagnosis. (See "Fetal echogenic
bowel".)

Up to 25 percent of affected fetuses have associated anomalies, with a strong association

with trisomy 21 [66,67].

Anorectal malformations — Abnormalities of the rectum and anus are thought to be due to

arrest of the caudal descent of the urorectal septum to the cloacal membrane. The resulting
malformations range from isolated imperforate anus to persistent cloaca. These
malformations are classified as "high" supralevator lesions, which end above the levator
sling and are typically associated with fistulas, and "low" infralevator lesions, which end
below the levator sling and are not associated with fistulas.

Isolated transient bowel dilatation has been observed as early as 12 weeks of gestation in a
fetus with anorectal atresia [68,69]; the distal colon may be dilated prenatally [70].

Associated anomalies occur in up to 50 percent of cases. Anal atresia is most commonly

associated with the VACTERL association (vertebral, anal atresia, cardiac,
tracheoesophageal fistula, renal, limb) and occurs with increased frequency in trisomy 21
[71].

If a vesicourethral fistula is present, urine may mix with meconium, causing it to calcify and
form enteroliths [72]. Therefore, if intraluminal calcifications are identified, anal atresia with
vesicorectal fistula should be suspected (image 10).

Assessment of the fetal cul-de-sac by magnetic resonance imaging can be helpful in

distinguishing between a high anorectal malformation and cloaca [6,11,73]. Magnetic
resonance imaging may reveal dilated meconium-filled rectum in cases of anal atresia [73],
and detection of abnormal fluid in the rectum suggests vesicorectal fistula (image 11).

Colonic atresia — Colonic atresia is a rare cause of intestinal obstruction and accounts for
less than 15 percent of all bowel atresias [39]. Similar to jejunal and ileal atresia, colonic
atresia is thought to be secondary to a vascular event or a mechanical event, such as
intestinal volvulus. The majority of colonic atresias occur proximal to the splenic flexure
with a distal microcolon.

As discussed above, distal colonic obstruction is often missed prenatally because fluid is
resorbed in the small bowel so colonic loops retain their normal caliber rather than dilating.
Polyhydramnios is rare and, when present, should raise the suspicion that a more proximal
obstruction is present. Perforation may occur with resulting ascites and meconium
peritonitis.

In two-thirds of cases, colonic atresia occurs as an isolated defect without associated

abnormalities. In the remaining cases, associated anomalies may include gastroschisis,
omphalocele, Hirschsprung disease, or ocular and skeletal anomalies [74]. Cardiac
anomalies and genetic defects are rare.

Differential diagnosis — Differential diagnosis of colonic obstruction includes meconium

ileus, persistent cloaca, meconium plug syndrome, fetal diarrhea [43], and megacystis
microcolon hypoperistalsis syndrome [75].

Intraluminal calcifications suggest a rectovesical fistula or Hirschsprung disease, while

extraluminal calcifications may be secondary to meconium peritonitis. (See "Overview of
echogenic masses and calcification in the fetal abdomen", section on 'Peritoneal
calcifications' and "Overview of echogenic masses and calcification in the fetal abdomen",
section on 'Enterolith'.)

Prenatal diagnostic evaluation — The fetus should be evaluated for associated anomalies,

including VACTERL association. We suggest echocardiography, given the increased
prevalence of cardiac malformations with anorectal malformations.

The finding of a fetal structural anomaly increases the possibility of a chromosome

abnormality or genetic molecular defect, and therefore, offering diagnostic genetic testing
is reasonable (see "Prenatal genetic evaluation of the fetus with anomalies or soft
markers"). Five percent of children with trisomy 21 have a gastrointestinal tract anomaly.
(See "Down syndrome: Clinical features and diagnosis", section on 'Gastrointestinal
abnormalities'.)

Postnatal management and outcome — (See "Congenital aganglionic megacolon

(Hirschsprung disease)" and "Intestinal atresia".)

SUMMARY AND RECOMMENDATIONS

● The diagnosis of bowel atresias prenatally can be difficult. Diagnosis is typically made
in the second or third trimester. Proximal obstruction is more readily diagnosed than
distal obstruction because bowel dilatation and/or polyhydramnios are more likely to
 be present. When obstruction is suspected in the second trimester, follow-up
ultrasound after 32 weeks of gestation is recommended. (See 'Imaging the fetal
gastrointestinal tract' above.)

● Magnetic resonance imaging (MRI) can be a useful adjunct in delineating the size and
contents of normal and abnormal bowel and can aid in the evaluation of associated
anomalies. (See 'Indications for magnetic resonance imaging' above.)

● Visualization of the fetal stomach is important in screening fetuses for esophageal

atresia. Nonvisualization can be due to a recently emptied stomach so repeated
examination is necessary. Failure to visualize the fetal stomach despite serial
examinations strongly suggests the diagnosis. (See 'Esophageal atresia' above.)

● Isolated esophageal atresia is readily diagnosed prenatally by the presence of

polyhydramnios, absent stomach, and a dilated proximal esophageal pouch in the neck
or mediastinum. However, over 85 percent of esophageal atresias are associated with
a tracheoesophageal fistula (TEF), and the diagnosis in these cases is often missed
prenatally because fluid can course into the stomach via the fistula. (See 'Esophageal
atresia' above.)

● Sonographic findings suggestive of duodenal atresia include a dilated fluid-filled

stomach next to a dilated proximal intestinal segment (fetal "double bubble"); the distal
segment is empty. Duodenal atresia is the most common atresia identified prenatally
and is associated with other anomalies, particularly trisomy 21. The diagnosis can be
missed prior to 24 weeks if the duodenum has not yet significantly dilated or if a TEF is
also present. (See 'Duodenal atresia' above.)

● Polyhydramnios often develops with proximal esophageal and duodenal obstructions,

but typically does not develop in more distal atresias or develops late in the third
trimester. (See 'Esophageal atresia' above and 'Duodenal atresia' above and 'Jejunal
and ileal atresia' above.)

● Prenatal ultrasound has low sensitivity for detection of colonic obstructions including
Hirschsprung disease, anorectal malformations, and colonic atresia. A dilated
meconium-filled rectum above the bladder outlet, lack of meconium in the rectum,
intraluminal calcifications, and/or the presence of VACTERL association suggest the
diagnosis. (See 'Colonic obstruction' above.)

● Anal atresia may be associated with rectovesical fistula. In these cases, urine can mix
with meconium resulting in a dilated fluid-filled rectum with intraluminal calcifications,
which is easily identified by ultrasound. On MRI, the rectum may be fluid-filled with high
signal on T2w. (See 'Anorectal malformations' above.)
● When calcifications are noted, it is important to determine if they are intraluminal or
extraluminal. Intraluminal calcifications suggest a rectovesical fistula or Hirschsprung
disease. Extraluminal may be secondary to meconium peritonitis. Echogenic bowel
with meconium peritonitis may be related to cystic fibrosis. (See 'Colonic atresia'
above.)

● Early prenatal diagnosis provides an opportunity for parental counseling and

preparation, screening for associated anomalies, pregnancy termination, or delivery at
an appropriate setting. Delivery should be planned at a center that has appropriate
neonatal support. Gastrointestinal abnormalities alone are not an indication for altering
the route of delivery unless there is significant enlargement of the abdominal
circumference as compared with the head circumference. (See 'General principles of
pregnancy management' above.)

REFERENCES

1. Cyr DR, Mack LA, Schoenecker SA, et al. Bowel migration in the normal fetus: US
detection. Radiology 1986; 161:119.
2. Parulekar SG. Sonography of normal fetal bowel. J Ultrasound Med 1991; 10:211.
3. Nyberg DA, Mack LA, Patten RM, Cyr DR. Fetal bowel. Normal sonographic
findings. J Ultrasound Med 1987; 6:3.
4. Zalel Y, Perlitz Y, Gamzu R, et al. In-utero development of the fetal colon and
rectum: Sonographic evaluation. Ultrasound Obstet Gynecol 2003; 21:161.
5. Barnewolt CE. Congenital abnormalities of the gastrointestinal tract. Semin
Roentgenol 2004; 39:263.
6. Farhataziz N, Engels JE, Ramus RM, et al. Fetal MRI of urine and meconium by
gestational age for the diagnosis of genitourinary and gastrointestinal
abnormalities. AJR Am J Roentgenol 2005; 184:1891.
7. Hertzberg BS. The fetal gastrointestinal tract. Semin Roentgenol 1998; 33:360.
8. Haeusler MC, Berghold A, Stoll C, et al. Prenatal ultrasonographic detection of
gastrointestinal obstruction: Results from 18 European congenital anomaly
registries. Prenat Diagn 2002; 22:616.
9. Stoll C, Alembik Y, Dott B, Roth MP. Evaluation of prenatal diagnosis of congenital
gastro-intestinal atresias. Eur J Epidemiol 1996; 12:611.
10. Corteville JE, Gray DL, Langer JC. Bowel abnormalities in the fetus--correlation of
prenatal ultrasonographic findings with outcome. Am J Obstet Gynecol 1996;
175:724.
11. Veyrac C, Couture A, Saguintaah M, Baud C. MRI of fetal GI tract abnormalities.
Abdom Imaging 2004; 29:411.
12. Colombani M, Ferry M, Garel C, et al. Fetal gastrointestinal MRI: all that glitters in
T1 is not necessarily colon. Pediatr Radiol 2010; 40:1215.
13. Holder TM, Cloud DT, Lewis JE Jr, Pilling JP IV. Esophageal atresia and
tracheoesophageal fistula: A survey of its members by the surgical members of
The American Academy of Pediatrics. Pediatrics 1964; 34:542.
14. The Association of Medical Ultrasound. AIUM practice parameter for the performa
nce of obstetric ultrasound examinations. http://www.aium.org/resources/guidelin
es/obstetric.pdf (Accessed on July 20, 2016).
15. Estroff JA, Parad RB, Share JC, Benacerraf BR. Second trimester prenatal findings
in duodenal and esophageal atresia without tracheoesophageal fistula. J
Ultrasound Med 1994; 13:375.
16. Kalache KD, Wauer R, Mau H, et al. Prognostic significance of the pouch sign in
fetuses with prenatally diagnosed esophageal atresia. Am J Obstet Gynecol 2000;
182:978.
17. Sase M, Asada H, Okuda M, Kato H. Fetal gastric size in normal and abnormal
pregnancies. Ultrasound Obstet Gynecol 2002; 19:467.
18. Shulman A, Mazkereth R, Zalel Y, et al. Prenatal identification of esophageal
atresia: The role of ultrasonography for evaluation of functional anatomy. Prenat
Diagn 2002; 22:669.
19. Shepherd P, Smeulders N, Coleman AH, Chitty LS. Congenital microgastria: a rare
cause of failure to visualise the fetal stomach. Prenat Diagn 2011; 31:1010.
20. Olgun H, Karacan M, Caner I, et al. Congenital cardiac malformations in neonates
with apparently isolated gastrointestinal malformations. Pediatr Int 2009; 51:260.
21. Spitz L. Esophageal atresia: past, present, and future. J Pediatr Surg 1996; 31:19.
22. Botto LD, Khoury MJ, Mastroiacovo P, et al. The spectrum of congenital anomalies
of the VATER association: An international study. Am J Med Genet 1997; 71:8.
23. Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the
VACTERL association: Review of genetics and epidemiology. J Med Genet 2006;
43:545.
24. Forrester MB, Merz RD. Population-based study of small intestinal atresia and
stenosis, Hawaii, 1986-2000. Public Health 2004; 118:434.
25. Skandalakaies JE, Gray SW, Ricketts R, et al. The small intestines. In: Embryology f
or Surgeons, 2nd ed, Skandalakis JE, Gray SW (Eds), Lippincott Williams and Wilkin
s, Baltimore 1994. p.184.
26. Chitty LS, Goodman J, Seller MJ, Maxwell D. Esophageal and duodenal atresia in a
fetus with Down's syndrome: Prenatal sonographic features. Ultrasound Obstet
Gynecol 1996; 7:450.
27. Dave S, Shi EC. The management of combined oesophageal and duodenal atresia.
Pediatr Surg Int 2004; 20:689.
28. Fujishiro E, Suzuki Y, Sato T, et al. Characteristic findings for diagnosis of baby
complicated with both the VACTERL association and duodenal atresia. Fetal Diagn
Ther 2004; 19:134.
29. Zimmer EZ, Bronshtein M. Early diagnosis of duodenal atresia and possible
sonographic pitfalls. Prenat Diagn 1996; 16:564.
30. Kimble RM, Harding JE, Kolbe A. Does gut atresia cause polyhydramnios? Pediatr
Surg Int 1998; 13:115.
31. Lawrence MJ, Ford WD, Furness ME, et al. Congenital duodenal obstruction: Early
antenatal ultrasound diagnosis. Pediatr Surg Int 2000; 16:342.
32. Hancock BJ, Wiseman NE. Congenital duodenal obstruction: The impact of an
antenatal diagnosis. J Pediatr Surg 1989; 24:1027.
33. Gilbertson-Dahdal DL, Dutta S, Varich LJ, Barth RA. Neonatal malrotation with
midgut volvulus mimicking duodenal atresia. AJR Am J Roentgenol 2009;
192:1269.
34. Choudhry MS, Rahman N, Boyd P, Lakhoo K. Duodenal atresia: Associated
anomalies, prenatal diagnosis and outcome. Pediatr Surg Int 2009; 25:727.
35. Balcar I, Grant DC, Miller WA, Bieber FA. Antenatal detection of Down syndrome by
sonography. AJR Am J Roentgenol 1984; 143:29.
36. Aronowitz D, Dolgin S, Bornstein E, et al. Perinatal hemorrhage from ulceration of
the umbilical cord: A potentially catastrophic association with duodenal and jejunal
obstruction. J Pediatr Surg 2018; 53:1669.
37. Baglaj M, Carachi R, Lawther S. Multiple atresia of the small intestine: A 20-year
review. Eur J Pediatr Surg 2008; 18:13.
38. Raherison R, Grosos C, Lemale J, et al. [Prenatal intestinal volvulus: A life-
threatening event with good long-term outcome]. Arch Pediatr 2012; 19:361.
39. Touloukian RJ. Diagnosis and treatment of jejunoileal atresia. World J Surg 1993;
17:310.
40. Iacobelli BD, Zaccara A, Spirydakis I, et al. Prenatal counselling of small bowel
atresia: Watch the fluid! Prenat Diagn 2006; 26:214.
41. Virgone C, D'antonio F, Khalil A, et al. Accuracy of prenatal ultrasound in detecting
jejunal and ileal atresia: Systematic review and meta-analysis. Ultrasound Obstet
Gynecol 2015; 45:523.
42. John R, D'Antonio F, Khalil A, et al. Diagnostic Accuracy of Prenatal Ultrasound in
Identifying Jejunal and Ileal Atresia. Fetal Diagn Ther 2015; 38:142.
43. Colombani M, Ferry M, Toga C, et al. Magnetic resonance imaging in the prenatal
diagnosis of congenital diarrhea. Ultrasound Obstet Gynecol 2010; 35:560.
44. Tonni G, Grisolia G, Granese R, et al. Prenatal diagnosis of gastric and small bowel
atresia: A case series and review of the literature. J Matern Fetal Neonatal Med
2016; 29:2753.
45. Sciarrone A, Teruzzi E, Pertusio A, et al. Fetal midgut volvulus: Report of eight
cases. J Matern Fetal Neonatal Med 2016; 29:1322.
46. Estroff JA, Bromley B, Benacerraf BR. Fetal meconium peritonitis without sequelae.
Pediatr Radiol 1992; 22:277.
47. Osmulikevici O, Renji E, Jaffray B, Embleton N. Isolated ascites in a newborn with
'apple peel' jejunal atresia. BMJ Case Rep 2017; 2017.
48. Patel PJ, Kolawole TM, Ba'Aqueel HS, al-Jisi N. Antenatal sonographic findings of
congenital chloride diarrhea. J Clin Ultrasound 1989; 17:115.
49. Kawamura T, Nishiguchi T. Congenital Chloride Diarrhea (CCD): A Case Report of
CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging
(MRI). Am J Case Rep 2017; 18:707.
50. Jerdee T, Newman B, Rubesova E. Meconium in perinatal imaging: Associations
and clinical significance. Semin Ultrasound CT MR 2015; 36:161.
51. Rubio EI, Blask AR, Badillo AT, Bulas DI. Prenatal magnetic resonance and
ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal
outcomes. Pediatr Radiol 2017; 47:411.
52. Lau PE, Cruz S, Cassady CI, et al. Prenatal diagnosis and outcome of fetal
gastrointestinal obstruction. J Pediatr Surg 2017; 52:722.
53. Saguintaah M, Couture A, Veyrac C, et al. MRI of the fetal gastrointestinal tract.
Pediatr Radiol 2002; 32:395.
54. Garel C, Dreux S, Philippe-Chomette P, et al. Contribution of fetal magnetic
resonance imaging and amniotic fluid digestive enzyme assays to the evaluation
of gastrointestinal tract abnormalities. Ultrasound Obstet Gynecol 2006; 28:282.
55. Wax JR, Hamilton T, Cartin A, et al. Congenital jejunal and ileal atresia: Natural
prenatal sonographic history and association with neonatal outcome. J Ultrasound
Med 2006; 25:337.
56. Shinmoto H, Kashima K, Yuasa Y, et al. MR imaging of non-CNS fetal abnormalities:
A pictorial essay. Radiographics 2000; 20:1227.
57. Goruppi I, Arévalo S, Gander R, et al. Role of intraluminal bowel echogenicity on
prenatal ultrasounds to determine the anatomical level of intestinal atresia. J
Matern Fetal Neonatal Med 2017; 30:103.
58. Dirkes K, Crombleholme TM, Craigo SD, et al. The natural history of meconium
peritonitis diagnosed in utero. J Pediatr Surg 1995; 30:979.
59. Sweeney B, Surana R, Puri P. Jejunoileal atresia and associated malformations:
Correlation with the timing of in utero insult. J Pediatr Surg 2001; 36:774.
60. Caspi B, Elchalal U, Lancet M, Chemke J. Prenatal diagnosis of cystic fibrosis:
Ultrasonographic appearance of meconium ileus in the fetus. Prenat Diagn 1988;
8:379.
61. Gaillard D, Bouvier R, Scheiner C, et al. Meconium ileus and intestinal atresia in
fetuses and neonates. Pediatr Pathol Lab Med 1996; 16:25.
62. Komuro H, Amagai T, Hori T, et al. Placental vascular compromise in jejunoileal
atresia. J Pediatr Surg 2004; 39:1701.
63. Jakobson-Setton A, Weissmann-Brenner A, Achiron R, et al. Retrospective analysis
of prenatal ultrasound of children with Hirschsprung disease. Prenat Diagn 2015;
35:699.
64. Eliyahu S, Yanai N, Blondheim O, et al. Sonographic presentation of Hirschsprung's
disease. A case of an entirely aganglionic colon and ileum. Prenat Diagn 1994;
14:1170.
65. Vermesh M, Mayden KL, Confino E, et al. Prenatal sonographic diagnosis of
Hirschsprung's disease. J Ultrasound Med 1986; 5:37.
66. Cowles RA, Berdon WE, Holt PD, et al. Neonatal intestinal obstruction simulating
meconium ileus in infants with long-segment intestinal aganglionosis:
Radiographic findings that prompt the need for rectal biopsy. Pediatr Radiol 2006;
36:133.
67. Kusafuka T, Puri P. Genetic aspects of Hirschsprung's disease. Semin Pediatr Surg
1998; 7:148.
68. Gilbert CE, Hamill J, Metcalfe RF, et al. Changing antenatal sonographic
appearance of anorectal atresia from first to third trimesters. J Ultrasound Med
2006; 25:781.
69. Kaponis A, Paschopoulos M, Paraskevaidis E, Makrydimas G. Fetal anal atresia
presenting as transient bowel dilatation at 16 weeks of gestation. Fetal Diagn Ther
2006; 21:383.
70. Taipale P, Rovamo L, Hiilesmaa V. First-trimester diagnosis of imperforate anus.
Ultrasound Obstet Gynecol 2005; 25:187.
71. Cuschieri A, EUROCAT Working Group. Anorectal anomalies associated with or as
part of other anomalies. Am J Med Genet 2002; 110:122.
72. Mandell J, Lillehei CW, Greene M, Benacerraf BR. The prenatal diagnosis of
imperforate anus with rectourinary fistula: Dilated fetal colon with enterolithiasis. J
 Pediatr Surg 1992; 27:82.
73. Lubusky M, Prochazka M, Dhaifalah I, et al. Fetal enterolithiasis: Prenatal
sonographic and MRI diagnosis in two cases of urorectal septum malformation
(URSM) sequence. Prenat Diagn 2006; 26:345.
74. Etensel B, Temir G, Karkiner A, et al. Atresia of the colon. J Pediatr Surg 2005;
40:1258.
75. Livingston J, Elicevik M, Crombleholme TM, et al. US findings in neonates with
anorectal malformations: A review of 95 cases. Am J Obstet Gynecol 2006;
195:S63.

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