CHAPTER 14 Ultrasound Evaluation of the Fetal Gastrointestinal Tract and Abdominal Wall

long-term problems include tracheomalacia, disordered esophageal

peristalsis, gastroesophageal reflux, vocal cord dysfunction, and respiratory problems.

SMALL INTESTINE
Duodenal Obstruction
Duodenal obstruction can be intrinsic, most commonly because of
atresia, or extrinsic, from constriction. An annular pancreas may occur
in conjunction with an intrinsic defect rather than representing a true
constricting lesion.27 A duodenal web can cause partial obstruction.
The prevalence of duodenal obstruction is about 1.8 per 10,000
births.28

Ultrasound Diagnosis
The characteristic double bubble sign of duodenal obstruction,
usually seen in conjunction with polyhydramnios, was one of the first
fetal anomalies that could be detected by ultrasound. However, a more
specific diagnosis requires demonstration of continuity of the dilated
duodenum with fluid in the stomach, crossing the midline of the
fetus29 (Fig. 14-4). If such continuity cannot be established, other
causes of an upper abdominal cyst (such as choledochal, mesenteric,
hepatic, or enteric duplication cyst) should be considered. The differential diagnosis also includes duodenal duplication.30
Cases of transient duodenal dilation have been reported, presumably caused by transit of fluid across the pyloric valve, so assessment
of suspected dilation should include documentation for a reasonable
length of time.
Duodenal obstruction can rarely, if ever, be diagnosed in the first
trimester.31,32 At the routine 20-week obstetric sonogram, the detection
rate may be as high as 50%,29,33 but like other obstructions of the gastrointestinal tract, this diagnosis is more reliably made in the third
trimester.

Associated Anomalies
Up to one half of children with duodenal obstruction have Down
syndrome.29,34 This is not surprising considering that the relative risks
of duodenal atresia and annular pancreas for Down syndrome are 264
and 430, respectively.35 That is, the finding of duodenal obstruction
increases the odds that a fetus has Down syndrome by a factor of at
least 264.
In addition to Down syndrome, duodenal obstruction is associated
with a wide variety of structural abnormalities, in particular congenital
heart disease, additional intestinal problems such as malrotation and
atresia, and all of the anomalies that are part of the VACTERL association (see Table 14-3).29,34

Prognosis
As is true with many conditions, the prognosis for duodenal obstruction is highly dependent on the presence or absence of associated
anomalies. In isolated duodenal obstruction, survival rate approaches
100%29; there is a wide variation in mortality rate in complicated cases,
dependent on the nature of the associated anomalies.

465

Neonatal Management
Fluid resuscitation and gastric decompression are followed by surgical
repair, which can be either laparoscopic or by open duodenoduodenostomy. Long-term survival is excellent for term infants
without associated anomalies but complications such as gastroesophageal reflux and delayed gastric emptying can occur.37

Echogenic Bowel
Definition
On second trimester ultrasound imaging, the fetal liver, lung, small
intestine, and bone demonstrate increasing echogenicity in that order
(Fig. 14-5A). In the 1990s it was noted that sometimes the echogenicity
of small intestine is increased, such that it appears as bright as bone.
This was referred to as echogenic bowel, a term often used interchangeably with echogenic small intestine. At that time, standard
transducers used for obstetric ultrasound imaging had frequencies of
3.5 to 5MHz and were without harmonic signal processing. Presentday transducer frequencies are typically 5 to 8MHz and harmonics are
routinely employed. These newer transducers offer improved resolution and thereby enhance prenatal diagnosis. They also make the disparity in echogenicity between small intestine and liver more
conspicuous, thereby making the diagnosis of echogenic bowel more
difficult38 (Fig. 14-5B and C).
For these reasons, it is now recommended that when echogenic
small intestine is suspected, a low-frequency transducer (5MHz)
should be used. Some authors suggest that the gain be turned down to
allow for comparison between the echogenicity of small intestine and
bone. Despite these caveats, the detection of echogenic small intestine
remains very subjective, more than most other sonographic observations39 (Fig. 14-6A). There are no standardized criteria for the sonographic diagnosis of echogenic small intestine.40
A 2011 review states that the prevalence of echogenic small intestine
in routine second trimester sonograms ranges from 0.2% to 1.8%.41
This ninefold range in prevalence attests to the subjectivity of this
finding.

Etiology
Echogenic small intestine is thought to be due to abnormal characteristics of intraluminal bowel contents or edema of the bowel wall.40
Factors such as decreased amniotic fluid volume, presence of meconium, intestinal hypomotility because of ischemia, and swallowed
blood after intra-amniotic bleeding have been associated with echogenic bowel.

Association With Adverse Outcomes (Table 14-4)

Down Syndrome. The odds that a fetus has Down syndrome is
increased in the presence of echogenic small intestine. The amount
that it is increased is defined by the likelihood ratio (LR). Owing in part
to the subjective nature of echogenic bowel, LR values as disparate as

Antenatal Management

TABLE 14-4 Adverse Outcomes

At the time of diagnosis, a detailed search for additional abnormalities

should include a fetal echocardiogram. The risk of aneuplopidy should
be addressed. Duodenal obstruction is associated with a high rate of
prematurity, possibly because of polyhydramnios, and an increased
rate of unexpected fetal demise.36 Antenatal surveillance is sometimes
considered, although the benefit is unclear. A pediatric surgery consult
is advised, and delivery should be at a tertiary care center.

Aneuploidy, in particular Down syndrome

Cystic fibrosis
Growth restriction and fetal demise
Congenital infection, in particular cytomegalovirus (CMV)
Gastrointestinal obstruction

Associated With Echogenic Bowel

466

SECTION I Obstetrics

C
FIG 14-4 Duodenal obstruction. In these three fetuses the diagnosis of duodenal obstruction was made in
the third trimester. All three demonstrate similar, characteristic ultrasound findings with fluid shown in the
stomach and proximal duodenum. A, This fetus was first seen at 34 weeks. On postnatal evaluation, he was
found to have an annular pancreas and normal chromosomes. He is doing well except for gastroesophageal
reflux. B, Duodenal atresia in a fetus with Down syndrome. C, This pregnancy was followed for mild fetal
ascites (see Fig. 14-18). Evidence of duodenal obstruction and mild polyhydramnios was noted by ultrasound
examination at 31 weeks. The child has Down syndrome and underwent an open duodeno-duodenostomy
on day 9 of life.

1.742 and 5.5 to 6.743 have been cited in a meta-analysis and in the
executive summary of a National Institutes of Health (NIH)-
sponsored workshop, respectively. In addition, the positive LR of an
isolated finding (such as echogenic bowel) depends on the product of
the negative LRs of all of the other sonographic markers, referred to
as soft signs. The earlier studies cited by the NIH workshop43 did
not include evaluation of the nasal bone, which has a negative LR
of approximately 0.5. Conversely the meta-analysis42 considered

evaluation for an aberrant subclavian artery, which is not frequently

done. If evaluation of the nasal bone is added to the NIH workshop
estimate, the LR for isolated echogenic bowel decreases to about 3, and
if evaluation of the subclavian artery is removed from the metaanalysis, the LR for isolated echogenic bowel increases to 2.4. Thus the
two estimates can be more closely reconciled.
Cystic Fibrosis. Cystic fibrosis has been detected in about 8% of
fetuses with echogenic small intestine.44 However, these patients were

CHAPTER 14 Ultrasound Evaluation of the Fetal Gastrointestinal Tract and Abdominal Wall

467

BOWEL
LIVER
BONE

LUNG

BOWEL

BONE
C
FIG 14-5 Normal intestine in the second trimester. A, Midline sagittal view through the normal fetal
abdomen. In order of increasing echogenicity: liver, lung, bowel, bone. B, Characteristic appearance of fetal
intestine in the second trimester, shown on this transaxial view through the midabdomen. C, Using a 9-MHz
transducer, the settings were deliberately manipulated to give the intestine an abnormal appearance such
that, as a result of artifact, the echogenicity of bowel is as bright as iliac bone.

not previously screened for cystic fibrosis carrier status, which can
detect approximately 90% of heterozygotes in the caucasian population; offering such screening is the standard of care in the United
States. The frequency of cystic fibrosis in a prescreened population with
echogenic bowel would clearly be much less. In some cases, sequencing
of the cystic fibrosis transmembrane receptor gene may be helpful in
patients with echogenic fetal bowel and normal cystic fibrosis screening results.
Congenital Infection. In one study, there were reported to be sonographic findings in 30 of 69 cases of congenital CMV infection, including 9 cases of echogenic small intestine.45 Other sonographic findings
associated with congenital CMV infection included growth restriction,
head circumference below the 5th percentile, brain calcifications, and
ventriculomegaly. An earlier study demonstrated similar results: 7 of
154 fetuses (5%) with documented congenital CMV infection had

echogenic bowel, whereas 131 fetuses (85%) had no sonographic findings.46 Conversely, the likelihood of CMV infection in a fetus with
echogenic small intestine is at most 3%46 and the association with other
infections is even less.40
Fetal Growth Restriction and Stillbirth. In recent years, increasing
attention has been directed toward the association between echogenic
small intestine and obstetric complications. The likelihood of fetal
demise and of FGR was increased by a factor of 9.6 and 2.1, respectively, in fetuses with echogenic small intestine.47 The median gestational age at fetal demise was 24 weeks, and in this study all spontaneous
fetal losses that were observed in the setting of isolated echogenic
small intestine occurred at or before 30 weeks. A subsequent study
reported very similar findings, with an increase in the likelihood of
growth restriction from 1.3% to 9.9% and an increase in the likelihood
of fetal demise from 0.5% to 8.9% in fetuses with isolated echogenic

468

SECTION I Obstetrics

ECHOCENIC BOWEL

D
FIG 14-6 Evolution of jejunoileal obstruction. A, Typical sonographic appearance of echogenic fetal bowel
(arrow) at 19 weeks. UV, umbilical vein. B, Of note on this follow-up examination, a slightly dilated loop of
small bowel with an echogenic rim is shown. C, At 23 weeks, a heterogeneous intra-abdominal cystic structure with echogenic margins was noted, indicating a meconium pseudocyst. D, Progressive dilatation of
fluid-filled small bowel segments was observed on serial obstetric sonograms. This is the appearance at 37
weeks. Immediately after birth, the child underwent resection of 27cm of small bowel, with anastomosis
of 104cm of proximal to 52cm of distal small bowel. She is now doing well without nutritional deficiencies.
(D, Courtesy of Mary Frates, MD.)

small intestine. Again, the median gestational age at fetal demise was
24 weeks and all spontaneous losses occurred prior to 30 weeks.48
These data suggest that the advantage of antenatal surveillance starting
at 32 weeks may be limited.
Additional factors that may further increase the likelihood of
obstetric complications in fetuses with echogenic small intestine
include elevated maternal serum alpha-fetoprotein49,50 and abnormal
uterine artery Doppler.51

Echogenic small intestine is rarely associated with other anomalies,

such as -thalassemia40 and intestinal obstruction (see Fig. 14-6).

Management of Isolated Echogenic Small Intestine

1. Targeted sonographic evaluation of fetal anatomy, including search
for other markers of aneuploidy or evidence of congenital CMV
infection, to ensure that the echogenic small intestine is indeed an
isolated finding.

CHAPTER 14 Ultrasound Evaluation of the Fetal Gastrointestinal Tract and Abdominal Wall
2. Evaluation of a priori risk of aneuploidy based on maternal age and
previously obtained screening results. If the patient desires, additional prenatal testing for aneuploidy can be offered. Given that the
increased risk of aneuploidy is relatively modest and is mainly
limited to trisomy 21, cell-free DNA testing is a useful option to
consider in this setting.
3. Evaluation of a priori risk of cystic fibrosis based on parental ethnicity and previously obtained carrier screening for CFTR mutations, which should be offered if not previously obtained. Even if
the mother screened negative, there is a residual risk that she is a
carrier, and that the fetus could be affected. If the prospective
parents wish to address this concern, the next step would be to
obtain blood from the father of the fetus for carrier screening, and
if he tests positive, one or both parents could pursue gene sequencing, which can detect mutations not identified through genotyping
panels.
4. Evaluation for congenital infection with maternal serologic tests.
Blood is routinely drawn to test for CMV antibodies, both IgG and
IgM. To help assess if the infection is acute in the setting of positive IgM antibody, IgG avidity can be determined. Although it is
possible to have fetal manifestations from recurrent or secondarily
infected CMV, the likelihood is low. Unless there are specific concerns, serologic tests for other infections such as toxoplasmosis
may not be warranted.41 If the maternal serologic tests indicate
evidence of acute infection, further evaluation such as amniocentesis for CMV RNA using polymerase chain reaction should be
offered.

469

5. Fetal surveillance in the second half of pregnancy. This typically

entails serial ultrasound examinations, often every 4 weeks, to
assess growth and amniotic fluid volume. Many institutions also
institute weekly or biweekly nonstress tests or biophysical profiles
after 32 weeks. Follow-up sonograms will detect most cases with
bowel complications.
As a rule, providers taking care of the newborn should always be
apprised of antenatal sonographic findings. If the child appears well,
no further evaluation is necessary after an in utero finding of isolated
echogenic small intestine: follow-up of 48 such infants demonstrated
a normal outcome.52

Jejunoileal Obstruction
When performing a second trimester obstetric sonogram using a highfrequency transducer, particularly in a thin patient, individual loops of
fetal bowel can often be discerned (see Fig. 14-5B). During the third
trimester, fluid can be seen within the bowel lumen; the maximal
diameter of normal fetal small intestine is reported to be 7mm.53
The hallmark of distal small bowel obstruction is dilated loops of
bowel (Fig. 14-6D). This is rarely seen before the third trimester. Polyhydramnios, a dilated stomach, and echogenic bowel are nonspecific
findings that are sometimes associated with or are precursors to identification of frank obstruction54 (Table 14-5).
Obstructed fetal small bowel should not be confused with normal
fetal colon, which becomes more prominent during gestation, typically
appearing as hypoechoic bowel segments, of varying size, at the
periphery of the abdomen (Fig. 14-7A). The small intestine tends to

TABLE 14-5 Sonographic Comparison Between Jejunal and Ileal Atresia in the Second Half

of Pregnancy
Segment

Intestinal Loops

Stomach

Peritoneal
Calcification

Ascites

Associated
Anomalies

Polyhydramnions

Jejunum

Marked dilation of loops, most of them

on the left abdominal side
Enlargement of duodenum is common
Usually only minor dilation of a few loops

Large

Frequent

Very rare

Frequent

Frequent

Normal

Frequent

Frequent

Rare

Rare

Ileum

B
FIG 14-7 Normal fetal colon. A, Normal fetal colon in the third trimester appears as hypoechoic loops of
varying size at the periphery of the abdomen and in the pelvis (arrows). B, Echogenic colon (arrows) is a
benign finding when seen after 36 weeks.