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Chapter 40 ■ The Fetal Musculoskeletal System 1417
BA
FIGURE 40-33. Thrombocytopenia: absent radius syndrome. A, Absent radius in association with hypoplastic ulna results
in talipomanus. Note that thumb is present. B, Correlative specimen photograph.
A B
C D
FIGURE 40-34. Arthrogryposis multiplex congenita. Decreased muscle bulk is replaced by a mixture of fat and adipose
tissue, resulting in multiple congenital joint contractures, including fixed internal rotation of shoulders, hyperextension of elbows, flexion
of wrists, and talipes equinovarus (clubfoot). Note that severity of deformity increases distally. The knees and hips at birth were demonstrated to be nonrigid contractures amenable to conservative postural therapy. A, Photograph demonstrates fixed contractures of the elbows,
wrists, digits, and ankles. B, Radiograph demonstrates similar contractures. C, Ultrasound of upper extremity demonstrates fixed extension
of the elbow and fixed flexion of the wrist and digits with talipomanus. D, “Buddha position” with flexed hips, knees, and ankles and
clubfoot distally.
A B
FIGURE 40-35. Hereditary lymphedema at 21 weeks. A, Femur surrounded by marked thickening of the subcutaneous
tissues. B, Lower extremity with marked thickening of subcutaneous tissues.
A
B C
D E
F
G H
FIGURE 40-36. Collage of hand and foot anomalies. A, Talipes equinovarus (clubfoot). Inverted plantar flexion with
medial deviation of the foot results in visualization of the long axis of the foot (metatarsals) and lower leg in the same plane. Note the
rounded angle between the foot and lower leg. B, Rocker-bottom foot. Convex sole contour and rounded soft tissue protrusion posterior
to the calf soft tissues. C, Toe polydactyly, six digits. D, Oligodactyly, three digits. E, Syndactyly. Soft tissue fusion of the first and
second digits. F, Sandal toes in a 37-week fetus with Nager syndrome demonstrates an exaggerated gap between the first and second toes
and a plantar skin furrow. G, Clinodactyly. Hypoplastic middle phalanx of fifth digit. H, Ectrodactyly, or split hand/foot deformity.
(C and E courtesy Ants Toi, MD; D and H courtesy Shia Salem, MD; University of Toronto.)
Chapter 40 ■ The Fetal Musculoskeletal System 1419
occurs in 60% of fetuses with trisomy 21; however, up
to 18% of normal fetuses may have a mild degree of
clinodactyly.
93
Camptodactyly is the permanent flexion
of a finger caused by flexion contracture of an interphalangeal joint.
Polydactyly is the presence of extra digits on the foot
or hand. Most cases are isolated findings, but extra digits
can be associated with syndromes and chromosomal
abnormalities. Polydactyly may be diagnosed toward the
end of the first trimester. The extra digit may consist of
a small, soft tissue projection or a complete digit. Post-
axial polydactyly (ulnar or fibular) is more common
and is found in conditions such as Ellis–van Creveld
syndrome, asphyxiating thoracic dystrophy, short-rib
polydactyly syndrome, and trisomy 13. Preaxial (radial
or tibial) polydactyly is found in familial conditions,
such as Fanconi syndrome, Holt-Oram syndrome, acrocephalosyndactyly, and conditions associated with triphalangeal thumb.60 Central polydactyly can also occur.
Polydactyly may be hereditary and familial. Because this
form is associated with a good prognosis, it is important
to review the pertinent family history.
Syndactyly refers to soft tissue and/or osseous fusion
of digits (Fig. 40-36, E). Syndactyly of the third and
fourth fingers in association with IUGR in the second
trimester suggests the diagnosis of triploidy.
An abducted, low-set thumb, or hitchhiker thumb
(see Fig. 40-24), is associated with diastrophic dwarf-
ism. An adducted thumb may be associated with aqueductal stenosis.
Ectrodactyly, or the split hand/foot “lobster claw’’
deformity, is a deficiency of the central digits resulting
in a cleft. It can occur as an isolated abnormality or in
association with other findings, such as cleft lip/palate,
as in ectrodactyly–ectodermal dysplasia clefting syndrome, Cornelia de Lange syndrome, and limb-mammary syndrome
96
(Fig. 40-36, H). Many isolated cases
are the result of a new dominant mutation or are inherited from parents with minimal manifestations. Thus, a
careful examination of the parents is needed before counseling low recurrence risk.
96,97
Talipomanus, or clubhand, can be radial or ulnar.
Radial clubhand is more common and is generally associated with the syndromes or karyotype abnormalities
previously described with radial ray variants. Trisomies
18 and 21, long arm deletion of chromosome 13, and
ring formation of chromosome 4 can be associated with
radial clubhand. Other conditions associated with talipomanus include the VACTERL association, Goldenhar syndrome, and Klippel-Feil syndrome. Another
abnormality includes a sporadic group of syndromes
associated with craniofacial abnormalities, most often
cleft lip and palate. Ulnar clubhand, associated with
ulnar ray defects, is uncommon and may be an isolated
finding.
Talipes equinovarus, or clubfoot, occurs in 0.1% to
0.2% of the population. The recurrence risk after the
birth of one child with isolated clubfoot is 2% to 3%,
and if one of the parents is affected, the recurrence risk
is 3% to 4%. The diagnosis is based on the recognition
of an inverted and plantar-flexed foot in which the metatarsal long axis is in the same plane as the tibia and fibula,
in association with a rounded angle of junction between
the foot and the lower leg (Figs. 40-37 and 40-38; Video
40-2). The majority are isolated malformations; however,
A B
FIGURE 40-37. Sonographic in utero diagnosis of
clubfoot. A, Clubfoot. Inverted, plantar-flexed, and medially
deviated foot results in visualization of the long axis of the foot
and tibia/fibula in the same plane. Note the rounded angle of
junction between the lower leg and foot. B, Normal foot. Note
the normal relationship of tibia and fibula to the metatarsals and
the normal squared angle of the lower leg to the foot. (From Jeanty
P, Romero R, d’Altoan M, et al: In utero sonographic detection of
hand and foot deformities. J Ultrasound Med 1985;4:595-601.)
FIGURE 40-38. Isolated unilateral clubfoot. T2-
weighted MR image demonstrates a clubfoot.
1420 PART IV ■ Obstetric Sonography
MRI and fetal karyotyping should be considered when
clubfoot is found in association with other structural
abnormalities.
98-104
Early amniocentesis is associated
with an increased risk of clubfoot. Hindfoot equinus
(plantar flexion), hindfoot varus (inward rotation),
forefoot adduction, and variable forefoot cavus (plantar
flexion) can also occur.
Congenital talipes equinovarus represents a spectrum
ranging from “postural” talipes or nonrigid deformity
requiring little active management, to a severe, rigid
deformity requiring extensive surgery. The foot is fixed in
adduction, supination, and varus position, thus appearing
to be turned inward. Tillett et al.99 found that up to 26%
of cases of clubfoot required no active postnatal management, presumably in the postural group. It is difficult to
determine if this group is positional or a false-positive
diagnosis. False-positive results are most often found in
the group with an isolated diagnosis of talipes equinovarus made in late pregnancy, although they can occur at
the 18- to 22-week evaluation, at a reported rate of
105
2.3%.
The normal foot may achieve extreme dorsiflexion or plantar flexion, and caution is advised when making
the initial diagnosis of isolated clubfoot in the third tri-
101,103
mester.
or bilateral) the risk of requiring surgery is approximately
40%.
In the setting of isolated clubfoot (unilateral
105
Rocker-bottom foot is the result of a vertical position
of the talus and equinus or vertical position of the calcaneus secondary to a short Achilles tendon (Fig. 40-36,
B). The tarsal bones are dislocated dorsally, so there is
a convex plantar surface with posterior bulging of the
calcaneus. It carries a high risk for fetal chromosomal
abnormalities such as trisomies 18 and 13 when associated with other abnormalities, as well as for other syndromes such as fetal akinesia sequence.
Brachydactyly is the abnormal shortening of the
digits. There is relative sparing of foot length in many
skeletal dysplasias, but the hands may be affected.
Achondroplasia has a characteristic configuration
with the digits ending at the same level and unable to
approximate the second, third, or fourth digits, leading
to the appearance of the “trident hand” (Fig. 40-39).
Sandal toes, or an exaggerated gap between the first
and second digits, is often visualized in the normal fetus
but has a higher prevalence in trisomy 21 fetuses
12
(Fig.
40-36, F). An elevated first digit/toe may cause a false
or transient abnormality that mimics sandal toes.
SKELETAL FINDINGS ASSOCIATED
WITH ANEUPLOIDY
When an abnormality in the musculoskeletal system is
detected during routine ultrasound examination, a systematic search is performed to detect other defects that
may lead to the diagnosis of a specific genetic or chromosomal defect.
expected/measured FL ratio below 0.9, based on BPD,
should prompt a detailed examination to assess for other
possible features of aneuploidy. However, in the third
trimester, a mildly shortened femur is generally associated with asymmetrical IUGR or a constitutional small
fetus rather than with aneuploidy. A femur/foot ratio
greater than 0.9 suggests IUGR rather than a bone dysplasia, whereas a femur/foot ratio of less than 0.9 suggests a skeletal dysplasia.
anomalies are associated with a symmetrical form of
IUGR versus asymmetrical IUGR often associated with
uteroplacental insufficiency. Triploidy is an exception,
occurring with an asymmetrical form of IUGR.
Trisomy 21 (Down syndrome) is the most common
chromosome abnormality in newborns, with an incidence of 1:600 to 1:800. About 95% of such cases result
from an additional chromosome 21; 3% result from
translocation; and 2% are mosaic. Most cases are sporadic; about 33% are born to mothers older than 35.
Characteristic skeletal findings include mild shortening
of the femur and humerus, clinodactyly of the fifth
finger, sandal gap toes, flat nasal bridge, frontal bossing,
and brachycephaly.
106,107
During the second trimester, an
12,108
In general, chromosomal
BA
FIGURE 40-39. Achondroplasia and the “trident hand” configuration. A, Homozygous achondroplasia with trident
configuration with the digits ending at the same level (yellow line), with inability to approximate the second, third, and fourth digits (pink
lines). B, Homozygous achondroplasia with ultrasound appearance of severe brachydactyly with trident configuration.
Chapter 40 ■ The Fetal Musculoskeletal System 1421
TRISOMY 21:
MUSCULOSKELETAL FEATURES
Mild shortening of femur and humerus
Clinodactyly of fifth finger
Sandal toes
Flat nasal bridge
Frontal bossing
Brachycephaly
Trisomy 18 (Edwards syndrome) is sporadically
inherited, with an incidence of 1:5000 live births. The
classic appearance is a persistently clenched hand with
overlapping of the second and third digits and the fourth
and fifth digits, often in association with clinodactyly of
the fifth digit. The findings are usually bilateral and
occur in more than 50% of trisomy 18 cases. Other
musculoskeletal findings include radial ray aplasia variants in 10% to 50%, syndactyly of the second and third
toes, simian creases, clubfoot or rocker-bottom foot,
incomplete clavicle ossification, and vertebral and rib
anomalies. The prognosis is poor; 90% of neonates
succumb in the first year of life, and all survivors have
profound mental retardation.
TRISOMY 18:
MUSCULOSKELETAL FEATURES
Persistent clenched hand with overlapping digits
Radial ray aplasia variants
Syndactyly
Talipes equinovarus (clubfoot)
Rocker-bottom foot
Vertebral and rib anomalies
Trisomy 13 (Patau syndrome) is sporadically inherited with an incidence of 1:10,000 live births. The
musculoskeletal anomalies include postaxial polydactyly
of hands and feet, possible clenched hand (with or
without overlapping digits), clinodactyly, and possibly
associated hypoplastic ribs and pelvic bones.
Triploidy (69,XXX, 69,XXY, or 69,XXY) occurs in
18% of all early miscarriages, but the incidence is only
1:2500 births. In 60% of cases, triploidy results from
dispermy, and in 40%, from diploid sperm or diploid
egg. The combination of early severe asymmetrical
IUGR, oligohydramnios, and an enlarged hydropic placenta suggests this diagnosis. A partial molar pregnancy
may be present. Associated musculoskeletal findings
include syndactyly of the third and fourth fingers, simian
crease, talipes equinovarus, and hitchhiker toe deformity.
Other findings may include micrognathia, ventriculomegaly, myelomeningocele, and cardiac abnormalities.
Acknowledgments
Special thanks to Drs. Katherine Fong, Shia Salem, Ants
Toi, and Greg Ryan and all the staff at Medical Imaging
and Maternal Fetal Medicine Department at the Mount
Sinai Hospital, Women’s College Hospital, and Sunnybrook Health Science Center in Toronto who have
provided many wonderful images and generously shared
their knowledge and work.
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CHAPTER 41
Fetal Hydrops
Deborah Levine
Chapter Outline
SONOGRAPHIC FEATURES
Ascites
Pleural Effusions
Pericardial Effusions
Subcutaneous Edema
Placentomegaly
Polyhydramnios
ETIOLOGY
IMMUNE HYDROPS
Management of the Fetus
Noninvasive Assessment of
Alloimmunization
NONIMMUNE HYDROPS
Pathophysiology
Causes and Associations
Cardiovascular Abnormalities
Neck Abnormalities
Thoracic Anomalies
Gastrointestinal Anomalies
Urinary Tract Anomalies
Lymphatic Dysplasia
Twins
Chromosomal Anomalies
Tumors
Anemia
Infection
Genetic Disorders
Metabolic Disorders
Skeletal Disorders
Endocrine Disorders
Drugs
Idiopathic Disorders
DIAGNOSTIC APPROACH TO
HYDROPS
History
Hydrops fetalis is an end-stage process for a number
of different diseases. It is defined as an abnormal accumulation of interstitial fluid in at least two body cavities
(pleural, peritoneal, or pericardial) or one body cavity in
association with anasarca (generalized massive edema).
Placentomegaly and polyhydramnios are common findings in cases of hydrops but are not needed for the
diagnosis.
Hydrops is the late stage of many processes that lead
to redistribution of body fluids among the intravascular
and interstitial compartments. This imbalance of fluid
can have many etiologies (see Table 41-1). There are at
least 80 different known causes of fetal hydrops.
of the causes and associations with hydrops overlap.
The basic etiology of hydrops is an imbalance of interstitial fluid, which may be caused by myocardial failure,
high-output cardiac failure, decreased colloid oncotic
plasma pressure (anemia), increased capillary permeability, and/or obstruction of venous and lymphatic flow.
Hydrops can be immune or nonimmune in origin.
Immune hydrops is defined by a circulating antibody
against red blood cells (RBCs) in the mother, whereas in
nonimmune hydrops no such antibody is found. Before
the widespread introduction of rhesus (Rh) anti-D
immune globulin in the 1970s, most cases of hydrops
were immune,
4,5
mune.
2,3
whereas currently, most are nonim-
This chapter reviews the findings of fluid in
1
Many
Complete Obstetric Ultrasound
Maternal Investigations
Fetal Investigations
Postnatal Investigations
FETAL WELFARE ASSESSMENT IN
NONIMMUNE HYDROPS
OBSTETRIC PROGNOSIS
Maternal Complications (Mirror
Syndrome)
Delivery
Predelivery Aspiration Procedures
Postnatal Outcome
CONCLUSION
different body cavities and the etiologies, diagnosis, and
treatment of hydrops. The mortality of fetal hydrops
generally remains higher than 70%. However, fetal
medical and interventional techniques allow for reversal
of hydrops (in nonaneuploid cases) and improved sur-
6
Although hydrops is a relatively common indica-
vival.
tion for tertiary-level fetal evaluation, because of the
many causes, each specific etiology is relatively rare.
SONOGRAPHIC FEATURES
It is important to understand the sonographic appearance of fluid in the different interstitial compartments
of the fetus. These fluid collections can occur in isolation, as in isolated ascites or isolated pleural or pericar-
dial effusion. When one collection is seen, it is important
to assess for a second collection to make the diagnosis of
hydrops; the fluid collection must be in at least two body
cavities to qualify as hydrops. Other findings in hydrops
can include subcutaneous edema, polyhydramnios,
and placentomegaly.
Ascites
Fetal ascites is diagnosed when fluid is seen between
bowel loops, along the abdominal flanks, around the
1424
A B
Chapter 41 ■ Fetal Hydrops 1425
C D
FIGURE 41-1. Ascites. A, Fluid outlines the liver. B, Fluid outlines the bowel, compressing it posteriorly. C, Ascites outlines the
umbilical vein (arrow). D, T2-weighted MR image shows the high-signal-intensity fluid in the fetal abdomen.
liver, and outlining the umbilical vessels (Fig. 41-1). In
normal fetuses, a small hypoechoic band (<
2 mm in
thickness) extending along the anterior and lateral fetal
abdomen may be present. This “pseudoascites” represents normal abdominal wall muscles or abdominal wall
fat, and should not be mistaken for an abnormal fluid
collection
7
(Fig. 41-2). The distinction between the
pseudoascites appearance and true ascites can be made
when the transducer angle is changed and the appearance
resolves. Pseudoascites does not surround the liver, but
rather stops at the insertion of the ribs. Note that true
ascites will extend around bowel loops (Fig. 41-3; Video
41-1), whereas pseudoascites is always a subcutaneous
finding.
Isolated ascites can be an early sign of hydrops. If truly
isolated, it can be caused by an obstructive urinary etiology or gastrointestinal (GI) obstruction. Isolated fetal
ascites has a more favorable prognosis than hydrops but
requires follow-up to ensure that hydrops does not ensue.
Small collections of ascitic fluid may outline abdominal viscera, including bowel loops or bladder, and may
cause an apparent increase in their echogenicity. Larger
accumulations outline the liver and spleen (Fig. 41-1, A
and B). The umbilical vessels will be seen as parallel
echogenic lines traversing the fluid space (Fig. 41-1, D).
Bowel loops may be free floating or, when meconium
peritonitis is present, may appear as a matted, echogenic
posterior mass. In male fetuses, ascitic fluid may track
1426 PART IV ■ Obstetric Sonography
A B
FIGURE 41-2. Pseudoascites. A, Transverse, and B, parasagittal, ultrasound views show hypoechoic abdominal musculature and
fat mimicking ascites. Note that this appearance will change with transducer angle, and the hypoechoic material will always be visualized
in the subcutaneous regions, not surrounding bowel.
A B
FIGURE 41-3. Ascites. A, Small amount of ascites (arrows). B, Moderate amount of ascites. Note how the ascites surrounds loops of
bowel. The bowel can appear echogenic because of through-transmission from the fluid.
through the patent processus vaginalis into the scrotum,
leading to hydroceles (Fig. 41-4). Chronic chest com-
pression from massive ascites may result in pulmonary
hypoplasia (Fig. 41-5).
mediastinal structures. Small pleural effusions do not
shift the mediastinum. Pleural effusions associated with
hydrops may be unilateral or bilateral, often beginning
as unilateral collections that progress bilaterally (Fig.
41-6, D). If mediastinal shift is visualized in association
Pleural Effusions
Pleural effusions typically occur later in hydrops than
does ascites (Fig. 41-6). If isolated and small, pleural
effusions tend to have a benign course (Fig. 41-6, A;
Video 41-2). Small effusions are seen as a thin, echolucent rim surrounding lung tissue and may also outline
with a small pleural effusion, a chest mass such as a
hernia or congenital pulmonary malformation should be
sought (Fig. 41-7). Larger effusions will lead to flattening
of the hemidiaphragms and, when sufficiently large,
mediastinal shift. A large, unilateral effusion suggests a
local cause, such as chylothorax. Although chylothorax
begins as a unilateral effusion, it can progress to cause
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