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ANSWERS
CASE 91
Limb–Body Wall Complex
1. A, B, C, and E
2. A
3. A
4. A
References
Chen CP, Chen YY, Su JW, et al: First-trimester two-dimensional and three-
dimensional ultrasound demonstration of craniofacial defects, abdominal
wall defects and upper limb deciency associated with limb-body wall
complex. Taiwan J Obstet Gynecol 2011; 50(4):558-560.
http://www.ncbi.nlm.nih.gov/pubmed/22212340 (Accessed on June 18, 2012.)
Chen CP, Tzen CY, Chang TY, et al: Prenatal diagnosis of acrania associated
with facial defects, amniotic bands and limb-body wall complex. Ultrasound
Obstet Gynecol 2002; 20(1):94-95.
http://www.ncbi.nlm.nih.gov/pubmed/12100428 (Accessed on June 18, 2012.)
Gorczyca DP, Lindfors KK, McGahan JP, et al: Limb-body-wall complex:
another cause for elevated maternal serum alpha fetoprotein. J Clin Ultra-
sound 1990; 18(3):198-201.
http://www.ncbi.nlm.nih.gov/pubmed/1690220 (Accessed on June 18, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 443, 446.
Comment
Differential Diagnosis
The differential diagnosis of scoliosis is quite broad, ranging from meningomyelocele, which results in scoliosis, to
VACTERL syndrome, which includes hemivertebrae and
associated scoliosis. Isolated hemivertebrae may cause mild
scoliosis but usually not to the degree identied in this case.
The two most likely differential diagnoses in this case are limb–
body wall complex and amniotic band syndrome. Limb–body
wall complex includes abdominal thoracic defects, craniofacial
defects, scoliosis, and limb defects. There are often associated
internal malformations such as cardiac defects, absent diaphragm, and renal abnormalities. Pentalogy of Cantrell, with a
large omphalocele and ectopic cordis, could also be considered.
Amniotic band syndrome also is considered within this
spectrum. This syndrome includes bizarre multiple fetal amputational defects as seen in this case and minor constrictive rings
and limb edema. Some authorities consider amniotic band syndrome to be a less severe form of limb–body wall complex,
whereas others believe these are two separate entities.
Ultrasound Findings
Typical ultrasound features include ventral wall defects, craniofacial defects, and scoliosis (Figures A and B). Sometimes the
fetus is so bizarre and misshapen that it almost appears as a
complex mass. The umbilical cord is often shortened, and the
fetus may be fused with the placenta (Figures C and D). The
many different potential etiologies of limb–body wall complex
include amniotic rupture and vascular infarct with disruption.
Prognosis and Management
The prognosis is uniformly fatal. No karyotypic abnormalities
associated with limb–body wall complex have been reported.
There is no known recurrent risk of limb–body wall complex.
186
Challenge
187
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CASE 92
A
D
History: Two coronal images are presented of secondtrimester fetal heads as incidental ndings on routine ultrasound scans (Figures A and B).
1. What should be included in the differential diagnosis?
(Choose all that apply.)
A. Cystic hygroma
B. Encephalocele
C. Strawberry-shaped calvaria
D. Atrioventricular canal
2. Does the alpha-fetoprotein (AFP) level help make this
diagnosis?
A. Yes, it is elevated.
B. Yes, it is abnormally low.
C. No, it is normal.
D. No, it is too variable to be helpful.
3. What is Meckel-Gruber syndrome?
A. Microcephaly with an occipital meningoencephalocele,
enlarged kidneys with cystic renal dysplasia, and hepatic
B
brosis and polydactyly
B. Macrocephaly
C. Microcephaly with a frontal meningoencephalocele
D. Macrocephaly with a frontal meningoencephalocele
4. What is the prognosis of the cases presented?
A. Very good
B. Poor
C. Excellent
D. Almost certainly fatal
C
189
ANSWERS
CASE 92
Encephalocele
1. A and B
2. C
3. A
4. B
References
Goldstein RB, LaPidus AS, Filly RA: Fetal cephaloceles: diagnosis with US.
Radiology 1991; 180(3):803-808.
http://www.ncbi.nlm.nih.gov/pubmed/1871297 (Accessed on June 20, 2012.)
Khan AN, Turnbull I, MacDonald S, et al: Encephalocele imaging. 2010,
http://emedicine.medscape.com/.
Article available at http://emedicine.medscape.com/. (Accessed on June 20, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 390-391, 409-410, 462-463.
Comment
Definition and Description
Encephaloceles are midline cranial defects that occur in
approximately 1 in 10,000 pregnancies. A cephalocele describes
a herniation of CNS meninges through the midline defect in
the cranium (Figures A and B). It results from the failure of
the surface ectoderm to separate from the neuroectoderm. It
may contain only cerebrospinal uid (cranial meningocele) or
brain and cerebrospinal uid (encephalocele). Both types have
a poor prognosis. The mortality rate of encephalocele is estimated at 50%, and 75% of the survivors are mentally retarded.
Both types have associated anomalies: CNS (up to 75%), systemic (70%), and karyotype (44%).
Location
All encephaloceles except those secondary to amniotic band
syndrome are midline. In the Western Hemisphere, most
encephaloceles (75%) occur in the occipital region, and the
frontal and parietal locations constitute the remaining 25%.
Frontal cephaloceles, more common in the Eastern Hemisphere, have a better prognosis.
Ultrasound Imaging
The ultrasound appearance of an encephalocele may be
entirely cystic or solid, a cyst-within-a-cyst, or cystic and
solid. The cranial defect is present but is not always apparent. Secondary ndings include microcephaly, lemon-head
deformity (30%), beaked tectum (70%), and ventriculomegaly
(50%) (Figure A). Associated CNS anomalies include migrational abnormalities, agenesis of the corpus callosum, and
cerebellar abnormalities. Meckel-Gruber syndrome (Figures
B to D) includes an occipital myelomeningocele, enlarged
fetal kidneys with cystic renal dysplasia, hepatic brosis, and
polydactyly.
Associated Nonneurologic Malformations
Associated nonneurologic malformations include intrauterine
growth restriction and abnormalities of amniotic uid volume.
Cardiac anomalies, facial clefts, and renal cystic disease have
been reported. In contrast to ndings with myelomeningoceles, the AFP level is usually not elevated in encephalocele
because skin covers the anomaly.
190
CASE 93
A
B
C
History: A 24-year-old woman with multiple congenital
anomalies presents from another institution.
1. What should be included in the differential diagnosis given
the consolidation of ndings seen in Figures A to C?
(Choose all that apply.)
A. Trisomy 21
B. Trisomy 13
C. Trisomy 18
D. VATER association
E. Tuberous sclerosis
D
2. In VACTERL association, the C in the acronym refers to
what anomaly?
A. Craniofacial abnormalities commonly present, includ-
ing cleft lip/palate
B. Cardiac
C. Central nervous system anomalies
D. Choanal atresia
3. Skeletal anomalies with VACTERL association include all
of the following except:
A. Absent or hypoplastic thumbs
B. Preaxial polydactyly
C. Vertebral abnormalities
D. Femoral hypoplasia
4. Which of the following statements concerning the progno-
sis for VATER or VACTERL association is false?
A. Most surviving children with VATER or VACTERL
association have delayed development.
B. Overall prognosis for VATER association depends on
the type and severity of underlying defects.
C. VACTERL association is usually a sporadic event.
D. There is a low risk of VACTERL association in subse-
quent pregnancies.
191
ANSWERS
CASE 93
VATER (VACTERL) Association
1. A, B, C, and D
2. B
3. D
4. A
References
McCauley J, Masand N, McGowan R, et al: X-linked VACTERL with
hydrocephalus syndrome: further delineation of the phenotype caused by
FANCB mutations. Am J Med Genet A 2011; 155A(10):2370-2380.
http://www.ncbi.nlm.nih.gov/pubmed?term=21910217 (Accessed on June
21, 2012.)
McGahan JP, Leeba JM, Lindfors KK: Prenatal sonographic diagnosis of
VATER association. J Clin Ultrasound 1988; 16(8):588-591.
http://www.ncbi.nlm.nih.gov/pubmed?term=3152406 (Accessed on June
21, 2012.)
Solomon BD: VACTERL/VATER association. Orphanet J Rare Dis 2011; 6:56.
http://www.ncbi.nlm.nih.gov/pubmed?term=21846383 (Accessed on June
21, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 438, 480.
Comment
Differential Diagnosis
The differential diagnosis in this case would be broad. Trisomies 18 and 13 must be excluded by karyotyping. Trisomy
21 could have some of the features identied in VATER
( vertebral defects, anal atresia, tracheoesophageal stula, radial
and renal dysplasia) association. There is a long differential of
other, rarer abnormalities that are characterized by vertebral,
renal, and radial ray defects. VATER association should be
strongly considered in this case.
Ultrasound Findings
VATER association includes vertebral defects, anal atresia, tracheoesophageal stula, and radial and renal dysplasia
(Figures A and B). VACTERL (vertebral defects, anal atresia,
cardiac anomalies, tracheoesophageal stula, radial and renal
dysplasia, limb anomalies) association also includes cardiac
and limb anomalies (Figure C). Typical ndings include radial
aplasia, hemivertebra, and scoliosis. In this case, there are
renal dysplasia, polyhydramnios, and an absent stomach secondary to esophageal atresia with a tracheoesophageal stula.
Cardiac anomalies include ventricular septal defect, as in this
case (Figure C). Ultrasound obtained after delivery is shown
in Figure D.
Prognosis and Management
The overall prognosis of VATER association depends on the
type and the severity of the underlying defects. Many of these
anomalies, such as anal atresia, can be repaired surgically. More
serious anomalies in VATER association, such as hydrocephalus, have a less favorable prognosis. Other anomalies, such as
radial aplasia or absent thumb, are associated with functional
decits. VACTERL association is usually a sporadic event, with
a low risk of recurrence.
192
CASE 94
A
B
History: An asymptomatic patient undergoes imaging in
her rst trimester.
1. What is the diagnosis in Figures A to C?
A. Cornual ectopic pregnancy
B. Cervical ectopic pregnancy
C. Heterotopic pregnancy
D. Abortion in progress
2. What entity does not cause a gestational sac to appear
eccentric?
A. Cornual ectopic pregnancy
B. Myoma
C. Myometrial contraction
D. Ruge-Simon syndrome
C
D
C. A thin hyperechoic line along the long axis of the gesta-
tional sac of the cornual pregnancy
D. A thin hyperechoic line along the short axis of the fal-
lopian tube to the ectopic gestational sac
4. What is the incidence of a cornual ectopic pregnancy?
A. The incidence of a cornual pregnancy is 50% of all
ectopic pregnancies.
B. The incidence of a cornual ectopic pregnancy is 20% of
all ectopic pregnancies.
C. The incidence of a cornual ectopic pregnancy is less
than 5% of all ectopic pregnancies.
D. The incidence of a cornual ectopic pregnancy is negli-
gible (<0.1%).
3. What is the interstitial line sign?
A. A thin hyperechoic line extending from the internal cer-
vical os to the periphery of the ectopic cornual gestational sac
B. A thin hyperechoic line extending from the central
endometrial stripe to the periphery of the ectopic cornual gestational sac
193
ANSWERS
CASE 94
Cornual (Interstitial) Ectopic Pregnancy
1. A
2. D
3. B
4. C
References
Ackerman TE, Levi CS, Dashefsky SM, et al: Interstitial line: sonographic
nding in interstitial (cornual) ectopic pregnancy. Radiology 1993;
189(1):83-87.
http://www.ncbi.nlm.nih.gov/pubmed/8372223 (Accessed on June 20, 2012.)
Frates MC, Laing FC: Sonographic evaluation of ectopic pregnancy: an
update. AJR Am J Roentgenol 1995; 165(2):251-259.
http://www.ncbi.nlm.nih.gov/pubmed/7618535 (Accessed on June 20, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 358, 359, 362.
Comment
Incidence
An interstitial or cornual ectopic pregnancy is an unusual form
of ectopic implantation; it occurs in less than 5% of all ectopic
pregnancies.
Ultrasound Imaging
In a cornual ectopic pregnancy, decidual reaction of the endometrium lining may occur as seen in Figure A. (See also gures
from Case 77: Heterotopic Pregnancy.) The ectopic gestational sac
is usually eccentrically located (see Figure B showing a twin
gestation and Figure C showing a singleton gestation). RugeSimon syndrome refers to the rare occurrence of a cornual
ectopic pregnancy that does not appear eccentric because
the uterus has rotated. Uterine anomalies such as septate or
bicornuate uterus can also result in an eccentric sac location.
Focal myometrial contractions, leiomyomata, and a retroverted
uterus result in a similar appearance.
Although some literature suggests that a myometrium less
than 5 mm surrounding the sac indicates a cornual ectopic
pregnancy, this was found to be an unreliable indicator in one
important study. The absence of surrounding myometrium
would suggest an interstitial pregnancy; however, the apparent
presence of myometrium around the sac does not exclude it. A
transvaginal coronal image of a cornual ectopic pregnancy in a
third patient shows the apparent myometrium (Figure D). The
ectopic pregnancy may be a live fetus or a mass of solid, vascularized tissue. The interstitial line sign (Figure D) is a straight,
thin hyperechoic line that extends from the endometrium to
the ectopically placed gestational sac; it has been reported as
an important nding in a cornual ectopic pregnancy. The interstitial line is thought to represent either the interstitial portion
of the fallopian tube or the endometrial canal. This sign has
been shown to be more sensitive than either the eccentric sac
location or myometrial thinning in conrming the presence of
a cornual ectopic pregnancy.
Prognosis of Undetected Cornual Ectopic
Pregnancy
Because of the proximity of the interstitial portion of the tube
to the uterine cavity, the diagnosis of a cornual ectopic pregnancy can be challenging. Patients present later than patients
with a typical ectopic pregnancy—as late as the beginning of the
second trimester. The cornu is partially protected by the myometrium and is capable of expanding more than the remainder
of the tube to accommodate an enlarging gestational sac. As a
result of this late presentation, a rupture can be catastrophic
and can occasionally lead to life-threatening hemorrhage.
194
CASE 95
A
LT = left.
B
History: A 32-year-old woman presents for a routine prena-
tal ultrasound scan.
1. What should be included in the differential diagnosis?
(Choose all that apply.)
A. Pulmonary sequestration
B. Congenital cystic adenomatoid malformation
C. Congenital high airway obstruction syndrome (CHAOS)
D. Congenital diaphragmatic hernia
E. Bronchial atresia
2. Which of the following is not an ultrasound nding in a
fetus with CHAOS?
A. Fetal ascites
B. Deviation of the heart into the right thorax
C. Inferior displacement of the diaphragms
D. Fluid-lled dilation of the trachea and bronchi
C
Used with permission from Anderson Publishing Ltd. from Hellinger J,
et al: Fetal MRI in the third dimension. Appl Radiol 2010; 39[7]:8-19.
© Anderson Publishing Ltd.
3. In terms of treatment of CHAOS, which of the following
statements is true?
A. Emergency delivery in the second trimester is required.
B. There is no effective treatment.
C. Ex utero surgery can be successful.
D. In utero surgery is not performed.
4. Which of the following is the best explanation for development of fetal ascites or hydrops with CHAOS?
A. High-output cardiac failure
B. Rapid arteriovenous shunting
C. Isoimmunization
D. Impaired venous return to the heart
195