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400
Figure 13–11. Pericallosal curvilinear lipoma diagnosed at 34 weeks
of gestation. (A) Median plane shows the echogenic lipoma ( arrows ).
The corpus callosum, which is positioned below the lipoma, is less
echogenic and thus difficult to visualize. (B) Paramedian plane shows
extension of the lipomatous mass into the choroid plexus ( arrows ). LV,
lateral ventricle. (Courtesy of Gustavo Malinger.)
Chapter 13 Tumors of the Brain
A
LV
B
Figure 13–13. Abortus with huge intracranial teratoma. Note the
extremely large size of the head.
Risk of Recurrence
Congenital CNS tumors are usually sporadic and not
associated with other malformations. A rare exception
is the hypothalamic hamartoblastoma characteristic of
the Pallister-Hall syndrome.
been documented between neurofibromatosis type I and
tuberous sclerosis,
syndrome,
Lindau disease.
24
57
choroid plexus papilloma and Aicardi
and hemangioblastoma and von Hippel-
58
56
A definite association has
LV
Figure 13–12. Pericallosal tubulonodular lipoma diagnosed at 30 weeks
of gestation. Axial transventricular plane shows the nodular mass
positioned anteriorly ( arrows ). Note the presence of associated colpo-
cephaly with an abnormally shaped frontal horn ( arrowhead ). LV, lateral
ventricle. (Courtesy of Gustavo Malinger.)
Sonographic and Magnetic
Resonance Imaging Diagnosis
With the widespread use of imaging modalities, namely,
ultrasound (US) and magnetic resonance imaging (MRI),
the ability to detect fetal tumors prenatally has improved
dramatically. There are many case reports as well as
Figure 13–14. Paramedian plane in a fetus with a brain teratoma shows
ventriculomegaly and intraventricular hemorrhage ( arrow ).
Chapter 13 Tumors of the Brain
401
A
B
*
C
Figure 13–15. Rapid development of choroid plexus papilloma of the lateral ventricle. (A) Paramedian plane at 28 weeks of gestation shows a small
cystic formation within the choroid plexus. This finding was not present at 23 weeks of gestation. (B) Axial plane at 35 weeks of gestation shows a much
larger multicystic mass. (C) Coronal plane at the level of the occipital lobe shows displacement of the falx from the midline. (D) Parasagittal plane shows
the lack of normal sulcation in the brain parenchyma around the mass ( asterisk ). (Courtesy of Zeev Efrat and Gustavo Malinger.)
some review studies of fetal brain tumors diagnosed in
27 , 59 – 62
utero.
All these studies are helpful in establishing
guidelines for correct prenatal diagnosis of such lesions.
Furthermore, imaging studies can be helpful in identifying and distinguishing potentially curable tumors, such as
choroid plexus papillomas, from rapidly fatal ones, such as
teratomas and PNETs.
Ultrasonography is the main method used to establish
a correct diagnosis in utero, once a solid, cystic, or calcified
lesion has been observed. It is also the best modality for
evaluating fetal macrocrania.
62
Most brain tumors show
a similar sonographic image represented by disorganized
structures within the fetal brain accompanied by areas of
calcification and cysts. Polyhydramnios is a common finding due to inhibition of swallowing caused by the tumor.
The head circumference measurement will show a huge
head size, far beyond what is expected for gestational age.
One should bear in mind that intracranial hemorrhage
can cause echogenic areas that may mimic intracranial
calcifications. According to Isaacs,
21
the most prevalent
clinical signs of intracranial fetal tumor are macrocephaly,
hydrocephaly, intracranial mass, polyhydramnios, breech
presentation, hydrops, stillbirth, dystocia, and enlarged
uterus.
According to Garel,
64
the contribution of MRI is relatively limited but may help in determining the remaining
brain structures and the exact localization of the tumor,
as well as in differentiating between tumor and hemorrhage. Recently, Cassart et al
61
studied 27 fetuses with
D
intracranial tumors; in 24 an MRI was also performed.
The authors found that the heterogeneous pattern characteristic of teratoma was better depicted by MRI. In
addition, in two patients with teratoma, MRI helped in the
assessment of tumor extension.
61
We find MRI very useful in counseling families with operable tumors regarding
the apparent lack of associated findings and the relatively
good prognosis expected following conservative management or surgery.
We should remember that fetal intracranial tumors
have consistently been diagnosed relatively late in pregnancy, during the late second trimester, third trimester,
or even at birth.
may grow very rapidly
65
This may be due to the fact that they
66
( Figure 13–15 ), they are of similar
echogenicity as the surrounding structures ( Figure 13–16 )
or to changes in echogenicity occurring during pregnancy
( Figure 13–17 ).
Teratoma
Around 100 reports on the prenatal diagnosis of fetal
intracranial teratomas have been published since the first
US description by Hoff and Mackay in 1980.
67
The sonographic and MRI appearance of the fetal intracranial
teratoma is usually that of an irregular solid mass, in some
cases with cystic and/or calcified components, distorting
brain anatomy
68
(see Figures 13–1 to 13–5 ). Intratumoral
vascularization as demonstrated by color Doppler may be
useful in the differential diagnosis between teratoma and
402
Figure 13–16. (A) Median plane in a fetus at 31 weeks of gestation diagnosed at 6 months of age as suffering from Pallister-Hall syndrome. The arrow
points to the basal cistern filled with a mass of similar echogenicity as the surrounding brain, later on proved to represent a hypothalamic hamartoblastoma. (B) Normal basal cistern ( arrow ) in a fetus at the same gestational age. (Courtesy of Gustavo Malinger.)
Chapter 13 Tumors of the Brain
AB
hemorrhage (Figure 13-9).
69
Although in most cases teratomas have been described relatively late in pregnancy, there
are isolated reports of first or early second trimester diagno-
70
Associated findings may include hydrocephaly
sis.
Figures 13–3 to 13–5 , 13–10 , and 13–14 ), macrocephaly,
brain atrophy or destruction
facial involvement
27 , 75
and fetal hydrops with cardiac failure.
74
(see Figures 13–1 and 13–7 ),
(see Figure 13–6 ), polyhydramnios,
77
71 , 72
(see
56 , 58
76
Astrocytoma
Although second in frequency, fetal astrocytomas have
been described to less extent than teratomas.
imaging, it seems difficult to differentiate between
66 , 79 , 80
them
ferential diagnosis may be the presence of intratumoral
hemorrhage.
(see Figure 13–8 ). A possible clue in the dif-
81 , 82
78
By prenatal
Primitive Neuroectodermal Tumor
Prenatal diagnosis of PNET is extremely rare and less
than 10 cases have been described.
83
In one recent case, an
echogenic mass was visualized by US and MRI at 24 weeks’
gestation causing severe ventriculomegaly; the diagnosis
was made only at autopsy.
60
In postnatal cases, the tumor
is usually solid, but in some cases, it may be composed of
solid and cystic structures ( Figure 13–8 ).
Medulloblastoma
Medulloblastomas are characteristically infratentorial
tumors. To the best of our knowledge, they have never
been diagnosed during the prenatal period. A description
of a 13-day-old girl with hydrocephaly starting at 22 weeks’
gestation has been published.
84
Choroid Plexus Papilloma
Choroid plexus papillomas (CPPs) have been reported
occasionally during the prenatal period. In 1989 Romero
and colleagues
85
described CPP of the lateral ventricle in
a fetus presenting with hydrocephaly at 30 weeks of gestation. They found that a comparison between the size of
the choroid plexus and the presence of an echogenic mass
A
Figure 13–17. Pericallosal curvilinear lipoma. (A) Median plane at 23 weeks of gestation. The corpus callosum, although present, is not clearly visualized
( arrows ). (B) At 32 weeks of pregnancy in the same plane, the hyperechogenic lipoma is clearly depicted ( arrows ). The diagnosis was confirmed postnatally
(Courtesy of Gustavo Malinger).
B
Chapter 13 Tumors of the Brain
403
A
C
Figure 13–18. Prenatal and postnatal magnetic resonance imaging (MRI) in a patient with lateral ventricle choroid plexus papilloma (CPP; same
patient as in Figure 13–14 ). Axial ( A ), coronal ( B ), and paramedian ( C ) planes at 36 weeks of gestation show the large, predominantly cystic tumor and
the abnormal surrounding brain parenchyma. (D) Axial plane at the age of 9 days. (E) Same plane at 15 months of age following surgical resection of the
tumor. Normal neurologic and developmental follow-up was done at 3 years of age. (Courtesy of Liat Ben Sira, MD, Tel Aviv, Israel.)
in the side where the choroid plexus seems larger may be
helpful hints for diagnosis.
85
D
CPPs may develop in the lateral ventricle (see Figures
13–15 and 13–18 ), third ventricle (see Figures 13–10
and 13–19 ), and fourth ventricle. Characteristically, they
are diagnosed during the third trimester and are always
associated with unilateral or bilateral ventriculomegaly. In
our own experience with two cases, the second-trimester
examinations were normal, but in one fetus, a repeated US
examination at 28 weeks detected what appeared to be a
small choroid plexus cyst; only follow-up examination at
35 weeks depicted the fully developed CPP. US and MRI
depicted in this case the abnormal adjacent parenchyma
(see Figures 13–15 and 13–18 ). In the other patient with a
third ventricle CPP diagnosed at 39 weeks, color Doppler
showing a very vascularized mass was more useful than
MRI in differentiating between hemorrhage and CPP (see
Figure 13–10 and 13–19 ).
B
E
Lipoma
Pericallosal lipomas occasionally have been diagnosed
using US and MRI. A literature review found fewer than
25 reported diagnoses. Mulligan and Meier
and colleagues
87
published the first prenatal descrip-
86
and Jeanty
tions in fetuses with agenesis of the corpus callosum and
Goldenhar syndrome, respectively. The only published
series described the US and MRI findings in seven fetuses.
The lipomas were visible by US in all the patients, but
in one of them it was wrongly considered a hemorrhage;
in six patients the diagnosis was made during the third
trimester and in one at 23 weeks’ gestation.
88
In the same
study, MRI enabled better characterization of the anomalies of the corpus callosum. The very rare Pai syndrome
(midline cleft of the upper lip, facial skin polyps, and CNS
lipomas) should be considered when a pericallosal lipoma
is diagnosed.
89
404
Chapter 13 Tumors of the Brain
A
Figure 13–19.
gestation shows the CCP causing dilation of the third ventricle ( arrows ) . (B) Postnatal MRI confirms the diagnosis ( arrows ). Note that the mass extends
into the lateral ventricles. (C) Same plane at 10 months of age following surgical resection of the tumor. Normal neurologic and developmental follow-up
was done at 4 years of age.
Prenatal and postnatal MRI in a patient with third ventricle CPP (same patient as in Figure 13–9 ). (A) Prenatal MRI at 40 weeks of
In our experience pericallosal lipomas are usually
diagnosed during the third trimester following apparently
normal second-trimester examinations or following US
examinations in which callosal dysgenesis was suspected
B
pregnancy should be offered if legally possible. In patients
with severe hydrocephaly and/or macrocephaly, the possibility of dystocia should be contemplated and cephalocentesis considered for maternal reasons.
C
(see Figures 13–11 , 13–12 , and 13–17 ). Extension to the
choroid plexus is frequent and seems not to alter the generally good prognosis ( Figure 13–10 ).
In some patients, T2-weighted MRI sequences may
fail to depict the lipoma.
90
Prognosis
With the exception of CPP and lipomas, the prognosis of
prenatally diagnosed fetal tumors is poor.
survival rates have improved somewhat with newer imaging and neurosurgical techniques. Survival figures and
degrees of neurologic deficits are variable and are related to
the patient’s age and the size, location, and histology of the
tumor. Although surgery remains the treatment of choice,
there is a high rate of mortality, and it is not indicated in
cases of neonates with enormous tumors that replace the
entire brain tissue.
54
Radiotherapy is not recommended as
a therapeutic option, as there is a deleterious effect of this
type of treatment on the immature, developing brain.
The same applies for radiation therapy under 2 years of
age. Chemotherapy usage is highly controversial; however, some investigators try to combine it with surgery for
malignant tumors only (eg, PNET and astrocytomas).
Prenatal diagnosed and apparently isolated pericallosal lipomas have a good prognosis. Ickowits et al
reported on six children without associated malformations
that were delivered; their follow-up was considered normal
at a mean age of 3 years.
54 , 91
The overall
93
Obstetric Management
Obstetrical management should not be modified in patients
with suspected apparently isolated CPPs or lipomas. When
other intracranial tumors are suspected, particularly those
causing brain destruction, the option for termination of
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Am J Neuroradiol. 2001;22(4):767–772.
89. Choustan A, Ville D, James I, et al. Pericallosal lipoma associated
with Pai syndrome: prenatal imaging findings. Ultrasound Obstet
Gynecol. 2008;32(5):708–710.
90. Malinger G, Ben-Sira L, Lev D, et al. Fetal brain imaging: a comparison between magnetic resonance imaging and dedicated neurosonography. Ultrasound Obstet Gynecol. 2004;23(4):333–340.
91. Cavalheiro S, Moron AF, Hisaba W, et al. Fetal brain tumors. Childs
Nerv Syst. 2003;19(7–8):529–536.
92. Jooma R, Kendall B, Hayward R. Intracranial tumors in neonates: A
report of seventeen cases. Surg Neurol. 1984;21:165–175.
93. Haddad SF, Menezes AH, Bell WE, et al. Brain tumors occurring
before 1 year of age: A retrospective reviews of 22 cases in an 11-year
period (1977–1987). Neurosurgery. 1991;29(1):8–13.
Chapter 14
THE FETAL EYE
Zeev Blumenfeld ● Moshe Bronshtein
KEY POINTS
1. A fetal neuroscan is not complete without a
thorough examination of the orbits, the eyes, and
their surroundings.
2. Malformations of the eyes can be solitary or in
association with other anomalies. Therefore, a search
for those should be undertaken.
3. Any alteration in the shape or size of the orbits,
the interorbital distances should be evaluated as a
possible sign of other anomalies.
4. Whenever fetal position enables, transvaginal
sonography should be used.
The ultrasonographic examination of the eyes is an
important and integral part of the fetal face survey. This
chapter describes the methodology of the orbit and eye
evaluation, the ultrasonic landmarks of the normal eye,
and the features of congenital abnormalities that may
be detected in the fetus. The presented data are a summary of the English literature on this topic, as well as the
authors’ experience.
EPIDEMIOLOGY OF CONGENITAL BLINDNESS
Congenital blindness is a common disorder in developing countries in contrast to Western countries.
Robinson and coworkers
10,000 births for eye malformations in British Columbia.
Stoll and associates
tions in 7.5 per 10,000 births in France. Studies in Great
5 , 6
Britain
have shown that about half of the cases of
1
reported a prevalence of 3 per
4
found congenital eye malforma-
childhood blindness are genetically determined. Twenty
percent of all cases were autosomal dominant, 17% autosomal recessive, 5% X-linked, and 8% were thought to
be multifactorial.
5
Intrauterine infections such as rubella
and toxoplasmosis are also regarded as major factors
contributing to eye malformations. More recently, fetal
alcohol syndrome has become well recognized as a
1 – 4
cause of ocular abnormalities, particularly of optic nerve
hypoplasia.
5 , 7
The most commonly described ocular abnormalities
were cataract (30%), microphthalmia (24%), coloboma
(9%), and anophthalmia (4%).
Phillips et al
6
also reported that cataract was the most
1 , 4 – 5
Robinson et al
common eye abnormality associated with congenital
blindness.
As extending the previous study performed in France,
7
Stoll et al,
reporting on 212,479 deliveries, found a slightly
lower prevalence of congenital eye malformations of 6.8
per 10,000. In this study, the prevalence of cataract was
2.7/10,000; of microphthalmia, 1.7/10,000;
mia, 0.23/10,000; and of coloboma, 1.4/10,000.
7
of anophthal-
5
Associated
fetal anomalies included clubfeet, microcephaly, hydrocephaly, cleft lip and palate, and facial dysmorphism.
affected neonates were smaller, weighed less, had smaller
head circumference and lower placental weight, and were
more often complicated by threatened abortion or oligoor polyhydramnios than controls.
7
Their mothers more
often used drugs during pregnancy, and their fathers were
more often exposed to occupational hazards than fathers of
controls.
tal consanguinity.
relatives of probands was 8.9%;
7
Eye malformations were associated with paren-
7
The recurrence risk for first-degree
7
this risk was more than
3 times that for additional, nonocular malformations.
Genetic counseling of the affected families is of utmost
importance. The genetics of several congenital malformations with eye abnormalities is known (eg, cataract
Coppock-like, Lowe syndrome, Norrie disease, X-linked
retinitis pigmentosa, chorioderemia, and retinoblas-
1 , 8 , 9
toma).
In these cases, early prenatal diagnosis is there-
fore possible.
The importance of ultrasound (US) in the prenatal
detection of eye abnormalities is discussed later in this
chapter.
DEVELOPMENT OF THE FETAL EYE
Figure 14–1 depicts the developmental process of the
embryonic and fetal eye. Ages here are given as postconceptional days and weeks, for the first few weeks, then
later on as postmenstrual weeks. The eyes first appear in
the 22-day-old embryo as a pair of lateral grooves that
1
and
7
The
7
408
Chapter 14 The Fetal Eye
Weeks Days
321
428
535
6
42
7
49
8
56
9
63
10
70
12
84
Optic
sulcus
Optic
vesicle
Optic
cup
31 days
The lens vesicle
differentiates into the
lens
The mesenchyme covering the anterior surface
of the lens splits internally to form the
anterior chamber, and vacuolization in the
layer contacting the lens forms the
posterior chamber; folds of skin form the
future eyelids and conjunctival sac
Lens placode
32 days
Neural fold
The neural folds in the future diencephalon
region indent to form the optic sulci, which
expand into optic vesicles
The optic vesicle invaginates to form the optic
cup, and the lens placode invaginates to form
the lens vesicle
Lens vesicle
33 days
Choroidal
fissure
Presumptive optic
39 days
nerve
Hyaloid artery
The choroidal fissure of the optic
stalk closes ventrally to enclose the
hyaloid artery and vein
47 days
Hyaloid vein
Pigment retina
Neural retina
The inner layer of the
optic cup becomes the
neural retina; the outer
layer becomes the
pigment retina
Conjunctival
sac
Eyelid
Anterior
chamber
Pupillary
membrane
Posterior chamber
16
112
Breakdown of the pupillary membrane
creates the pupil; the eyelids fuse; the
portion of the hyaloid artery that traverses
the vitreous body to serve the developing
lens disintegrates
14020
Figure 14–1. Development of the eye from day 21 to day 40 (postconception). (From Larsen, 2001,
11
with permission.)
Cornea
Pupil
ac
Chapter 14 The Fetal Eye
c
409
hv
m
A
Figure 14–2. The normal fetal eye (A) Normal fetal eye at 27 weeks, visualized by transvaginal sonography (TVS). ac, anterior chamber; c, cornea;
hv, hyaloid vessels; L, lens; m, macula. (B) Color-flow imaging reveals the active arterial flow in the hyaloid artery ( arrow ) toward the lens (L).
originate from the neural fold of the forebrain and form
the optic vesicles.
10 , 11
Subsequently, the optic vesicles
invaginate and form the optic cup.
The lens vesicle originates from the surface ectoderm
at 33 days and subsequently differentiates into the lens at
39 to 47 days. Both the developing lens and the retina are
vascularized by the hyaloid artery.
The optic cup is connected to the brain by the optic
stalk. The nerve fibers that emerge from the retina are
connected with the brain through the optic stalk, which
develops into the optic nerve during gestational week 8. At
L
B
eyeball showed an almost linear increase during gestation. The horizontal diameter of the eyeball was longer
than the sagittal, and the vertical diameter was the shortest one. The average diameters of the eye in male fetuses
were longer than in female fetuses.
14
At birth, the various
dimensions of the eyeball were approximately one-third of
the adult size.
When eyeball measurements were compared with
gestational age, weight, height, head circumference, and
abdominal circumference, it was found that the fetal head
circumference correlated best with ocular growth.
15 , 16
the end of the fifth week, the optic capsule is completely
surrounded by a loose mesenchyme. This tissue differentiates into an inner layer comparable to the pia mater of the
brain and an outer layer comparable to the dura mater.
At 6 to 7 postmenstrual weeks, the choroid originates
from the inner layer, and the outer layer develops into the
sclera. The anterior chamber of the eye comes from the
mesenchyme that overlies the lens. At 8 postmenstrual
weeks, the cornea differentiates from the external layer of
the anterior chamber. The eyelids are mesodermal folds
lined with ectoderm that meet in front of the cornea by
the eighth week.
10 , 11
The hyaloid artery originates from the ophthalmic
artery. It runs through the center of the eye and terminates
at the posterior surface of the lens ( Figure 14–2 ).
10 – 12
primary function is to nourish the developing lens. There
is a normal process of regression of the hyaloid vessels
toward the end of pregnancy.
of regression is associated with fetal abnormalities mainly
of the central nervous system (CNS).
10 – 13
A delay in the process
13
The flow in the
hyaloid artery can be seen using color Doppler sonography.
Figure 14–2B depicts hyaloid arterial flow at 16 weeks.
Ocular growth during fetal life was studied in prod-
ucts of spontaneous and induced abortions.
14 , 15
The
development of the diameter and circumference of the
ULTRASONOGRAPHIC
EVALUATION OF THE FETAL EYE
Technique
A detailed ultrasonic examination of the fetal eye was first
reported by Birnholz
eyes were analyzed in both axial and coronal planes. In
the axial plane, scanning is done from the top of the skull
across the fetal face. In the coronal plane, the scanning
focus was moved from the tip of the nose to the posterior
aspect of the eye.
nea, sclera, irises, hyaloid artery, retina, and optic nerve
were depicted. However, such a detailed examination is
Its
not always possible, and sonologists are advised to refer to
these studies in order to better understand the ultrasonic
features of the different parts of the fetal eye.
tical purposes, most sonologists examine qualitatively the
size and location of the orbits, eyelids, hyaloid artery, and
lens ( Figures 14–2 , 14–3 , 14–4 , 14–5 , 14–6 , and 14–7 ).
Whenever an ocular malformation is suspected and the
fetus is in the vertex presentation, the use of transvaginal sonography (TVS) may in some cases provide better
visualization of the different eye structures. The use of
16
and de Elejalde and Elejalde.
16 , 17
In both studies, the eyelids, lens, cor-
16 , 17
For prac-
17
The