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ANSWERS
CASE 76
Osteogenesis Imperfecta
1. A, B, and C
2. A
3. D
4. D
References
Bulas DI, Stern HJ, Rosenbaum KN, et al: Variable prenatal appearance of
osteogenesis imperfecta. J Ultrasound Med 1994; 13(6):419-427.
http://www.ncbi.nlm.nih.gov/pubmed/8083940 (Accessed on June 14, 2012.)
McEwing RL, Alton K, Johnson J, et al: First-trimester diagnosis of osteo-
genesis imperfecta type II by three dimensional sonography. J Ultrasound
Med 2003; 22(3):311-314.
http://www.ncbi.nlm.nih.gov/pubmed/12636334 (Accessed on June 14, 2012.)
Parilla BV, Leeth EA, Kambich MS, et al: Antenatal detection of skeletal
dysplasias. J Ultrasound Med 2003; 22(3):255-258.
http://www.ncbi.nlm.nih.gov/pubmed/12636325 (Accessed on June 14, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 476–478.
Comment
Description and Cause
Osteogenesis is a connective tissue disorder that is attributed to
defective type I collagen. Various organ systems may be involved,
including the eyes (sclerae), skin, teeth, and ears. However, the
most widely recognized abnormalities involve the skeletal system.
Classification
A classication system has been described using genetic, clinical, and radiographic criteria. Type I and type IV are autosomal
dominant and nonlethal. Type I is associated with mildly fragile
bones without signicant deformity. Type IV is associated with
osteoporosis and fragile bones that bow. Type II and type III
are more severe. Type II can be autosomal dominant, in which
case most affected fetuses die. Type III is autosomal recessive
and nonlethal. Type II is associated with demineralization and
multiple fractures. In type III, fractures that result in deformed
bones and spine are present.
Ultrasound Imaging
The ultrasound diagnosis relies on the detection of fractures,
unusual bowing of the long bones, and decreased bone brightness (Figures A and B). If none of these is present, the diagnosis of osteogenesis imperfecta cannot be made, even in the
appropriate clinical and biochemical settings. The lack of positive ultrasound ndings cannot rule out an affected fetus. The
ultrasound criteria for lethal type II osteogenesis imperfecta
include not only marked deformities or fractures but also bone
demineralization, particularly of the calvaria (Figure C).
Cranial compressibility with clear visualization of intracranial contents, especially the cerebral gyri, suggests the diagnosis of osteogenesis imperfecta. Demineralization cannot
be quantitated but is suggested by the lack of normal bone
brightness. Figure C, an axial view of the head, shows normal
internal anatomy, including the choroid plexus, but no normal
calvarial brightness. The differential diagnosis of skull demineralization includes congenital hypophosphatasia and achondrogenesis, both of which may produce poor ossication of
the spine, with fewer than three ossication centers characteristic of the latter.
Fractures can be multiple and involve long bones and ribs,
which may also appear bowed or beaded, as in type III osteogenesis imperfecta (Figure A). A bowed femur is more difcult to measure for an accurate length. The phrase “wrinkled
appearance” has been used to describe the femur with multiple
fractures. If the spine can be clearly imaged, the vertebral bodies may be attened; this is called platyspondylisis and is caused
by softening of the vertebral bodies. Polyhydramnios may be
present.
Prenatal diagnosis of the nonlethal subtypes may be more
difcult. Bowing or angulation at the point of a fracture may
be seen (Figure B). Normally, only the inner surface of the
femur can appear mildly bowed. Any other long bone with
bowing could be considered abnormal. Mineralization, identied on ultrasound as brightness, is usually normal. Limb
length can be normal to moderately shortened. The outcome
ranges from mild afiction (e.g., osteoporosis) to stillbirth or
early neonatal death.
156
CASE 77
A
History: Two patients present with pelvic pain during the
rst trimester of pregnancy.
1. What should be included in the differential diagnosis?
(Choose all that apply.)
A. Pregnancy in two uterus horns
B. Twin intrauterine pregnancy
C. Heterotopic pregnancy
D. Cornual ectopic pregnancy
2. Which of the following factors does not account for the
increase in heterotopic pregnancies to 1 in 100? (Choose all
that apply.)
A. Assisted reproduction
B. Pelvic inammatory disease
C. Higher resolution ultrasound equipment
B
Courtesy of Alda Cossi, MD.
3. Which of the following is not a treatment option?
A. Salpingocentesis (direct infusion of potassium chloride
into the ectopic gestation)
B. Salpingectomy
C. Salpingostomy
D. Tubal ligation
4. Which of the following factors is most important in deter-
mining the outcome of a heterotopic pregnancy?
A. Location of the ectopic component
B. Age of the mother
C. Number of previous live births
D. Type of hormone treatment given to the mother to
improve fertility
157
ANSWERS
CASE 77
Heterotopic Pregnancy
1. A and C
2. C
3. D
4. A
References
Dialani V, Levine D: Ectopic pregnancy: a review. Ultrasound Q 2004;
20(3):105-117.
http://www.ncbi.nlm.nih.gov/pubmed/15322388 (Accessed on June 14, 2012.)
Doubilet PM, Benson CB, Frates MC, et al: Sonographically guided minimally
invasive treatment of unusual ectopic pregnancies. J Ultrasound Med 2004;
23(3):359-370.
http://www.ncbi.nlm.nih.gov/pubmed/15055783 (Accessed on June 14, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 359, 366, 368, 576.
Comment
Incidence
The occurrence of an intrauterine pregnancy with a simultaneous extrauterine gestation was a rare phenomenon previously,
with spontaneous incidence estimated at 1 in 30,000 pregnancies. Later investigations determined the spontaneous heterotopic pregnancy rate to be 1 in 7000. However, several factors
have led to an increase in the incidence of heterotopic pregnancy in recent years, including assisted reproduction techniques, intrauterine contraceptive devices, pelvic inammatory
disease, and previous tubal surgery. In these high-risk groups,
the incidence of heterotopic pregnancy has been estimated to
be 1 in 3000. For women undergoing assisted reproduction
techniques, this complication occurs in 1% to 3%.
Ultrasound Imaging
In cases where women have undergone assisted reproduction
techniques, the diagnosis is often made with a screening ultrasound early in the gestation while the woman is asymptomatic.
Symptomatic patients present with abdominal pain in most
cases; vaginal bleeding occurs in only 50%. Improvements
in ultrasound technology have resulted in an increased rate
of detection for heterotopic pregnancies, particularly using
transvaginal imaging. However, a preliminary transabdominal
ultrasound scan is essential to exclude any suprauterine mass
or a rare abdominal pregnancy. In a heterotopic pregnancy, in
addition to the intrauterine gestation, ultrasound may show
a live extrauterine gestation, an adnexal gestational sac, or an
adnexal mass. The present cases show an intrauterine pregnancy with an intrauterine gestational sac and a yolk sac and
similar ndings in the right adnexa of the uterus (Figures A
and B). Although the presence of an intrauterine gestation
formerly excluded an ectopic pregnancy, in any woman with
risk factors for heterotopic pregnancy, careful evaluation for an
adnexal mass or complex uid must be performed. A ruptured
corpus luteum cyst can also result in a moderate amount of
intraperitoneal hemorrhage.
Treatment
Treatment options are aimed at salvaging the intrauterine
pregnancy. Salpingectomy, salpingoscopic removal, and salpingocentesis (direct infusion of potassium chloride into the
ectopic gestation) all have been performed. Ultrasound-guided
injection of potassium chloride into the ectopic gestation or
fetus is safe, ablating the ectopic pregnancy while permitting
the normal continuation of a concomitant intrauterine pregnancy. Also, with this option the uterus is preserved for future
gestations. Oophorectomy is performed for the rare ovarian
heterotopic pregnancy.
Prognosis
The outcome depends on the location of the heterotopic
pregnancy. Cornual heterotopic pregnancies are particularly
hazardous owing to hemoperitoneum, with a lower rate of
survival for the intrauterine gestation. Overall, the intrauterine
gestation survival rate is 60% to 70%.
158
CASE 78
A
History: An asymptomatic patient with a mid–second-tri-
mester pregnancy undergoes imaging.
1. What should be included in the differential diagnosis of the
uid-lled structure in Figure A? (Choose all that apply.)
A. Fetal gallbladder
B. Choledochal cyst
C. Intraabdominal portion of the umbilical vein
D. Duplication cyst
2. What is the usual outcome when the fetal gallbladder is not
seen by 35 weeks’ gestation?
A. Normal
B. Increased incidence of biliary tract anomalies
C. Increased incidence of cystic brosis
D. Biliary atresia
B
3. What is the usual outcome of fetal gallstones?
A. Acute cholecystitis
B. Need for cholecystectomy
C. Spontaneous resolution
D. Remain static
4. When are fetal gallstones seen?
A. Fetal gallstones are usually seen by 20 weeks’ gestation.
B. Fetal gallstones are usually seen by 16 weeks’ gestation.
C. Fetal gallstones are not seen until term.
D. Fetal gallstones are usually seen in the third trimester.
159
ANSWERS
CASE 78
Fetal Gallbladder
1. A, B, C, and D
2. A
3. C
4. D
References
Blazer S, Zimmer EZ, Bronshtein M: Nonvisualization of the fetal gallblad-
der in early pregnancy: comparison with clinical outcome. Radiology 2002;
224(2):379-382.
http://www.ncbi.nlm.nih.gov/pubmed/12147832 (Accessed on June 14, 2012.)
Hertzberg BS, Kliewer MA, Bowie JD, et al: Enlarged fetal gallbladder: prog-
nostic importance for aneuploidy or biliary abnormality at antenatal US.
Radiology 1998; 208(3):795-798.
http://www.ncbi.nlm.nih.gov/pubmed/9722862 (Accessed on June 14, 2012.)
McNamara A, Levine D: Intraabdominal fetal echogenic masses: a practical
guide to diagnosis and management. Radiographics 2005; 25(3):633-645.
http://www.ncbi.nlm.nih.gov/pubmed/15888614 (Accessed on June 14, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, p 431.
Comment
Detection
The fetal gallbladder can be seen in 82% to 100% of all second- and third-trimester prenatal ultrasound studies. It is
seen more frequently between 24 and 32 weeks of gestation.
Visualization declines later in gestation, perhaps because of
gallbladder contractions near term. In fetuses in which the
gallbladder is not visualized, the outcome is usually normal,
with no increased incidence of biliary tract anomalies or cystic
brosis. A more recent study showed a gallbladder detection
rate of 99.9% at 14 to 16 weeks’ gestation when the transvaginal ultrasound technique was used. Nonvisualization of the
gallbladder in early pregnancy was associated with anomalies
in 40% of patients.
Enlargement
The fetal gallbladder enlarges progressively throughout the
gestation period. The average area is 8 mm
2
between 12 and
15 weeks and 91 mm2 between 32 and 35 weeks. Gallbladder enlargement plateaus at 30 to 36 weeks of gestation. Cholecystomegaly, or gallbladder enlargement, is not associated
with biliary tract abnormalities. Infants with trisomy 13 have
an increased incidence of gallbladder enlargement; however,
this is not a predictor of chromosomal anomalies on prenatal
ultrasound.
Differential Diagnosis
The gallbladder may extend directly anteriorly (Figure A)
and can be mistaken for the normal umbilical portion of the
left portal vein (Figure B). It should not be mistaken for an
umbilical varix, which is a focal dilation of the intraabdominal
umbilical vein just inside the abdominal wall; this can be distinguished by color Doppler imaging. A prominent gallbladder
should not be mistaken for a cystic abdominal mass.
Cholelithiasis
Fetal cholelithiasis is a common nding and almost always
occurs in the third trimester. Many gallstones resolve spontaneously in utero or soon after birth. Gallstones that persist
rarely cause symptoms.
160
CASE 79
C
Used with permission from McGahan JP, et al. Fetal Heart. In McGahan
JP, Goldberg B [eds]: Diagnostic Ultrasound, 2nd ed. New York, NY.
Informa Healthcare USA, 2008; 1269.
History: A patient with a family history of congenital heart
disease presents at 24 weeks’ gestation for evaluation.
A
A = anterior; P = posterior; LT = left; RT = right.
B
Used with permission from McGahan JP, et al. Fetal Heart. In McGahan
JP, Goldberg B [eds]: Diagnostic Ultrasound, 2nd ed. New York, NY.
Informa Healthcare USA, 2008; 1269.
1. What should be included in the differential diagnosis for
the imaging nding presented in Figure A? (Choose all that
apply.)
A. Truncus arteriosus
B. Ebstein anomaly
C. Double outlet of the right ventricle
D. Dextraposed transposition of the great arteries (d-TGA)
E. Endocardial cushion defect
2. What is the most common associated defect with d-TGA?
A. Atrial septal defect
B. VSD
C. Endocardial cushion defect
D. Tricuspid or mitral valve atresia
3. Which one of the following is not an important nding used
to help identify potential cases of d-TGA?
A. Abnormal cardiac axis of approximately 60 degrees on
four-chamber view of the heart
B. Presence of VSD on four-chamber view of the heart
C. Lack of identication of a criss-cross relationship of
the aorta and the pulmonary artery on outow tract
views
D. Real-time clip showing the great vessel arising from the
left ventricle to bifurcate
4. Which of the following statements concerning corrected
TGA is not true?
A. The four-chamber view of the heart may have an
abnormal cardiac axis.
B. A VSD is present on a four-chamber view.
C. Blood from the anatomic left atrium enters the ana-
tomic left ventricle, giving rise to the pulmonary artery.
D. Corrected TGA is not well tolerated in utero.
161
ANSWERS
CASE 79
d-Transposition of the Great Vessels
1. C and D
2. B
3. A
4. C
References
Lagopoulos ME, Manlhiot C, McCrindle BW, et al: Impact of prenatal diag-
nosis and anatomical subtype on outcome in double outlet right ventricle.
Am Heart J 2010; 160(4):692-700.
http://www.ncbi.nlm.nih.gov/pubmed/20934564 (Accessed on June 14, 2012.)
McGahan JP, Moon-Grady AJ, Pahwa A, et al: Potential pitfalls and methods
of improving in utero diagnosis of transposition of the great arteries,
including the baby bird’s beak image. J Ultrasound Med 2007; 26(11):1499-
1510; quiz 1511.
http://www.ncbi.nlm.nih.gov/pubmed/17957044 (Accessed on June 14, 2012.)
Shima Y, Nakajima M, Kumasaka S, et al: Prenatal diagnosis of isolated con-
genitally corrected transposition of the great arteries. Arch Gynecol Obstet
2009; 279(4):557-559.
http://www.ncbi.nlm.nih.gov/pubmed/18688623 (Accessed on June 14, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 416-419.
Comment
Differential Diagnosis
The main differential diagnosis for parallel outow tracts is
d-TGA or double outlet of the right ventricle. In d-TGA, the
anatomic left ventricle is connected to the pulmonary artery
and the anatomic right ventricle is connected to the aorta.
The oxygenated pulmonary venous blood returns to the left
atrium and the left ventricle and recirculates to the pulmonary vascular bed. Deoxygenated blood returns to the right
atrium and right ventricle, bypassing the lungs, and exits into
the aorta. This anomaly may be associated with other cardiac
abnormalities.
In double outlet right ventricle, both arteries arise from the
right ventricle. The great arteries do not criss-cross, but the
two arteries arise side by side. In truncus arteriosus type I, the
pulmonary artery bifurcates toward the base of the aorta. It is
less likely to be confused with d-TGA.
Ultrasound Findings
d-TGA is probably one of the most difcult cardiac abnormalities to recognize in utero. Publications have shown that the
presence of a VSD or an atrioventricular canal with d-TGA is
helpful because it alerts the examiner to possible conotruncal
abnormalities such as a d-TGA. However, in most cases, the
four-chamber view of the heart is unremarkable because the
ventricles are normal in size and the cardiac axis is normal. It is
important to use real-time imaging to show that the great vessels do not criss-cross. If they arise side by side, this is a strong
indicator of d-TGA (Figures A to C).
A corrected TGA, or a left transposition, differs from
d-TGA because there is ventricular inversion. The blood from
the left atrium enters the morphologic right ventricle and is
directed into the aorta. Similarly, the deoxygenated blood
enters the right atrium and ows into the morphologic left
ventricle and then into the lungs. This anomaly is associated
with a much better prognosis than d-TGA. However, there
may be VSD and often pulmonary valve stenosis. Corrected
TGA is a much rarer anomaly than d-TGA.
Prognosis and Management
If there is no VSD or atrioventricular canal with closure of the
ductus arteriosus, a newborn with d-TGA may present shortly
after birth with cyanosis and deteriorate rapidly. However, with
a VSD, cyanosis may be mild. The most common initial procedure is to create a hole in the atria using a balloon for an atrial
septostomy. Corrective surgery such as an arterial switch may
be performed later.
162
CASE 80
A
Used with permission from McGahan JP, Benacerraf BR: Fetal heart. In
McGahan JP, Goldberg BB (eds): Diagnostic Ultrasound, 2nd ed. New
York: Informa Healthcare USA, 2008.
History: A patient presents for a routine anatomic scan at
22 weeks’ gestation.
1. What should be included in the differential diagnosis for
Figure A? (Choose all that apply.)
A. Rhabdomyoma
B. Fibroma
C. Teratoma
D. Myxoma
E. Hemangioma
2. With which cardiac tumor is tuberous sclerosis commonly
associated?
A. Rhabdomyoma
B. Fibroma
C. Teratoma
D. Hemangioma
3. Which of the following statements concerning rhabdomyomas is false?
A. Rhabdomyomas are commonly associated with fetal
hydrops.
B. Rhabdomyomas are associated with fetal arrhythmias.
C. Approximately half of all cardiac rhabdomyomas de-
tected prenatally are multiple.
D. Almost all cardiac rhabdomyomas originate from the
ventricular septum.
B
Used with permission from McGahan JP, Benacerraf BR: Fetal heart. In
McGahan JP, Goldberg BB (eds): Diagnostic Ultrasound, 2nd ed. New
York: Informa Healthcare USA, 2008.
4. Which of the following statements concerning tuberous
sclerosis is false?
A. Tuberous sclerosis is associated with the development
of giant cell astrocytomas.
B. The most common renal tumor associated with tuber-
ous sclerosis is renal cell carcinoma.
C. Tuberous sclerosis is typically associated with lymphan-
gioma leiomyomatosis within the lungs.
D. Retinal lesions called astrocytic hamartomas can be
identied on CT in patients with tuberous sclerosis.
163
ANSWERS
CASE 80
Cardiac Rhabdomyoma
1. A, B, C, and E
2. A
3. A
4. B
References
Coates TL, McGahan JP: Fetal cardiac rhabdomyomas presenting as diffuse
myocardial thickening. J Ultrasound Med 1994; 13(10):813-816.
http://www.ncbi.nlm.nih.gov/pubmed/7823347 (Accessed on June 14, 2012.)
Niewiadomska-Jarosik K, Stańczyk J, Janiak K, et al: Prenatal diagnosis and
follow-up of 23 cases of cardiac tumors. Prenat Diagn 2010; 30(9):882-887.
http://www.ncbi.nlm.nih.gov/pubmed/20715118 (Accessed on June 14, 2012.)
Yinon Y, Chitayat D, Blaser S, et al: Fetal cardiac tumors: a single-center
experience of 40 cases. Prenat Diagn 2010; 30(10):941-949.
http://www.ncbi.nlm.nih.gov/pubmed/20721876 (Accessed on June 14, 2012.)
Cross-Reference
Ultrasound: The REQUISITES, 2nd ed, pp 417-418.
Comment
Differential Diagnosis
The differential diagnosis in this case includes cardiac tumors.
The most common cardiac tumor detected prenatally is cardiac
rhabdomyoma. This tumor accounts for most cases of prenatally detected cardiac tumors. Less common tumors include
bromas, teratomas, and hemangiomas. Fibromas usually originate from the left ventricle and are isolated. Teratomas are
usually extracardiac and may be intrapericardial or rise from
the aortic root or pulmonary artery. Hemangiomas are very
rare and are usually located at the base of the heart.
Another entity that could be considered in the differ-
ential diagnosis is a prominent moderator band within the
right ventricle; this could be a potential pitfall. Also, an
echogenic cardiac focus secondary to calcication of the
papillary muscle could be considered in the differential diagnosis, although these foci would appear much smaller than
a cardiac tumor.
Ultrasound Findings
Cardiac rhabdomyomas are usually homogeneously echogenic
intracardiac masses. They have a smooth wall and are usually
attached to the ventricular septum, but they may originate from
the free wall of the ventricle (Figures A and B). Cardiac rhabdomyomas are often multiple and have been shown to cause
diffuse increased wall thickening, especially of the left ventricle
(Figure A). This ventricular wall thickening is probably endocardial broelastosis, secondary to outow obstruction from
the cardiac rhabdomyoma (Figure A).
Prognosis and Management
The prognosis for cardiac rhabdomyomas is mixed. If one
considers the rhabdomyoma itself, the prognosis is good.
Many of these tumors regress partially or completely postnatally. However, most cardiac myomas are identied in fetuses
and newborns with tuberous sclerosis, and the prognosis in
these cases is less favorable. Newborns with tuberous sclerosis have various neurologic symptoms owing to subependymal hamartomas, including seizures, developmental delay, and
behavioral problems.
Other cardiac tumors are considered to have a better prognosis if they can be surgically removed. These are usually isolated tumors, but they are very rare. Any type of cardiac tumor
that is large or strategically located can cause cardiac outow
obstruction leading to heart failure. In addition, many of these
tumors may be associated with death within the rst 6 months
of life, probably secondary to fatal arrhythmias.
164
CASE 81
A
History: A 40-year-old woman presents with vaginal
bleeding.
1. What should be included in the differential diagnosis for
the well-dened spherical soft tissue mass of the endometrial cavity in the patient with vaginal bleeding? (Choose all
that apply.)
A. Retained products of conception
B. Submucosal broid
C. Polyp
D. Endometritis
2. What ultrasound procedure helps dene endometrial contents with uid?
A. Sonohysterogram
B. Hysterosalpingogram
C. Polypectomy
D. Transperineal ultrasound
3. What ultrasound features distinguish an endometrial polyp
from a submucosal broid?
A. A polyp is hyperechoic, whereas a submucosal broid is
usually hypoechoic.
B. A vascular stalk is commonly seen in submucosal
broids.
C. Cystic spaces of dilated glands are seen in many submu-
cosal broids.
D. Endometrial polyps are generally larger than submuco-
sal broids.
B
4. Which of the following statements is true?
A. A thickened endometrial stripe suggests a diagnosis of
endometrial cancer.
B. A thickened endometrial stripe can be normal or can
result from hyperplasia, endometrial cancer, or polyps.
C. An abnormal endometrial stripe in a postmenopausal
patient is a stripe less than 0.5 cm.
D. A thickened endometrial stripe from hormone replace-
ment is irreversible.
C
165