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A B
S
V
S
H
H
C D
H
P
E F
FIGURE 34-35. Intracranial hemorrhage. A, Grade 4 intracerebral hemorrhage with clot (arrow) extending into the occipital
cortex on parasagittal view. B, Bilateral subdural hemorrhages (S) compressing the brain (arrows) and associated with slight asymmetrical
ventricular enlargement (V). These hemorrhages resolved spontaneously in this case, and the child did well. No cause was found. Most
children with this finding do poorly. C, Parasagittal, and D, coronal, views of thalamic and brainstem hemorrhage (H) at 38 weeks. The
posthemorrhagic porencephalic cyst (P) helps to differentiate this from tumor such as teratoma. Hypoxia was the likely etiology. This
fetus died shortly after the examination. E, Coronal view at 23 weeks shows a grade 4 hemorrhage with clot extending into the parenchyma.
F, T2-weighted MR image shows the low signal intensity of blood products in the parenchyma (arrows). The relatively high signal intensity
in the surrounding parenchyma suggests edema and venous infarction.
1238 PART IV ■ Obstetric Sonography
A
FIGURE 34-36. Hydranencephaly. A, Transverse thalamic view at 38 weeks shows asymmetrical cerebral destruction with preserved
interhemispheric fissure. B, Hydranencephaly at 17 weeks shows cranium filled with fluid. At first, the appearance suggests alobar holoprosencephaly, but the presence of the falx (arrow) and lack of thalamic fusion as seen by the large third ventricle help confirm hydranencephaly. (A from Toi A, Chitayat D, Blaser S. Abnormalities of the foetal cerebral cortex. Prenat Diagn 2009;29:355-371.)
Many affected fetuses die in utero. Survivors may
appear and initially behave normal at birth, even though
they lack a cerebral cortex. The diagnosis can be readily
made clinically by cerebral transillumination
236
and confirmed with ultrasound or MRI. Most die in the first year,
but survival to 32 years has been described in a vegetative
237
state.
B
and intracranial hemorrhage. Diagnosis is generally
made in the third trimester at ultrasound, triggered by
excessive uterine growth,
been discovered as early as 17 weeks.
238
although teratomas have
240
The differential
diagnosis includes intracranial hemorrhage, vascular
malformations, and dural sinus thrombosis.
Outcomes are poor, especially if tumors appear early.
Overall survival is about 28%. Survival and outcome
Tumors
Prenatal intracranial solid tumors are rare, occurring in
about 1.4 to 4.1 per 100,000 pregnancies. Most are
sporadic. A few are associated with familial syndromes
that have genetic abnormalities, such as neurofibroma-
tosis, tuberous sclerosis, von Hippel–Lindau, and LiFraumeni syndrome.
238,239
Fetal brain tumors tend to
be supratentorial in location, unlike tumors in older
children, which are more likely to involve posterior fossa
structures. Brain tumors account for about 10% of all
perinatal tumors. Approximate frequencies of tumors
described include teratomas 45%, neuroepithelial
tumors (astrocytomas, medulloblastoma, choroid plexus
papilloma, gliomas) 43%, craniopharyngioma 7%,
mesenchymal tumors (meningioma, sarcoma) 5%, and
hemangioblastoma 0.4%.
238-240
The prenatal sonographic finding is a complex intracranial mass, occasionally with calcifications, macrocephaly, and hydrocephalus (Fig. 34-37). The tumors
grow quickly and can erode into the orbit, oral cavity,
or neck. Associated findings include polyhydramnios
relate to size and location of tumor, its histology, surgical
resectability, response to chemotherapy and condition of
the fetus at diagnosis. From 40% to 100% of survivors
have long-term neurologic deficits. Slightly better survival is seen with choroid plexus papilloma (73%) and
meningeal tumors (36%).
238,239
Choroid plexus papillomas are large, finely nodular
masses that grow into the lateral ventricle and produce
excessive CSF, resulting in severe dilation of the entire
ventricular system and macrocephaly. They are described
in association with Aicardi syndrome and giant pig-
mented nevi. Surgical resection can be curative but is
technically difficult, and the vascular nature of choroid
plexus papillomas can result in fatal hemorrhage. Overall
survival is about 73%.
238
Fetuses suspected to have brain tumors should undergo
detailed ultrasound examination to look for associated
abnormalities, which can occur in about 12.5% of cases,
especially involving the face. Karyotype is generally of
limited value because chromosomal abnormalities are
uncommon. MRI is helpful in characterizing the mass
and helping differentiate tumors from other conditions
V
A B
Chapter 34 ■ The Fetal Brain 1239
C
such as hemorrhage and sinus thrombosis. The large
head size can interfere with delivery and require cephalocentesis to allow vaginal delivery.
238,239,241
Intracranial lipomas are not “neoplasms” but rather
represent abnormal differentiation of the meninx primitiva, which normally forms the subarachnoid space.
Instead of resorbing at 8 to 10 weeks, the meninx persists
and develops into mature adipose tissue. The incidence
is 4 to 40 per 100,000 autopsies. Most occur in the
interhemispheric region close to the corpus callosum and
are usually associated with dysgenesis of the corpus callosum. At ultrasound, intracranial lipomas appear as an
echogenic mass in the midline in the region of the corpus
callosum (Fig. 34-38). MRI is helpful to confirm the fatty
nature of the mass and further evaluate changes in the
corpus callosum. Most do not grow. Many patients are
asymptomatic, but associated abnormalities may cause
FIGURE 34-37. Intracranial teratoma. A, Sonogram at 34
weeks shows teratoma forming an echogenic mass with small cystic
spaces (arrows) displacing the midline to one side. The visible lateral
ventricle (V) is dilated. B, In a different fetus, a facial teratoma
invades the brain. C, MR image of same fetus in B shows the intracranial extent of the tumor.
symptoms.
242,243
Surgical treatment of the lipoma is generally not indicated. Surgery can be dangerous because of
the strong attachment of the lipoma to surrounding
structures and the nerves and vessels within the mass.
244
CONCLUSION
Until recently, the assessment of the fetal central nervous
system was the domain of those performing prenatal
ultrasound, radiologists and obstetricians. The introduction of MRI to prenatal neurologic diagnosis has introduced many other experts to the diagnosis, investigation,
and management of fetal conditions, including pediatric
neuroradiologists, neurologists, and neurosurgeons. Our
understanding of the genetic basis of many syndromes
and CNS findings as well as the nature of fetal CNS
1240 PART IV ■ Obstetric Sonography
FIGURE 34-38. Lipoma. Midline lipoma forming an echo-
genic mass near the foramina of Monro at the expected anterior
end of the corpus callosum (arrow). These are not neoplasms and
represent abnormal differentiation of meninges into fat. Midline
lipomas are often associated with dysgenesis of the corpus callosum, as in this fetus, where the cavum septi pellucidi is absent and
the ventricles are dilated.
abnormalities has also increased in recent years as a result
of cross-fertilization among specialties. Those performing ultrasound are increasingly learning the complexities
and large spectrum of neonatal diseases. Those in pediatrics are discovering that conditions affecting the fetus
are often very different from conditions affecting neonates who survive pregnancy and are born alive.
Acknowledgments
The advice and support of my colleagues Drs. Susan
Blaser, David Chitayat, Katherine Fong, Charles Raybaud,
and Patrick Shannon is acknowledged and appreciated.
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Chapter 34 ■ The Fetal Brain 1243
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CHAPTER 35
The Fetal Spine
Eric E. Sauerbrei
Chapter Outline
DEVELOPMENTAL ANATOMY
Embryology of the Spine
Ossification of the Fetal Spine
Normal Position of the Spinal Cord
SCANNING TECHNIQUES
Three-Dimensional Ultrasound
SPINA BIFIDA
Folic Acid Fortification
Pathogenesis and Pathology
Alpha-Fetoprotein and Ultrasound
Screening
Sonographic Findings in the Spine
Associated Cranial Abnormalities
Associated Noncranial Abnormalities
Prognosis
Fetal Surgery for Myelomeningocele
Abnormalities of the spine are some of the most
common congenital abnormalities. In the United States,
overall incidence of neural tube defects (NTDs) was
approximately 1 to 2 per 1000 births
it is now 0.5 to 1.0 per 1000 pregnancies since the
widespread use of folic acid before conception
addition of folic acid to enriched grain products.
rently, 42 nations practice mandatory folic acid fortification to combat neural tube defects.
Neural tube defects are associated with substantial
morbidity and mortality. Many survivors have severe
long-term morbidity that has a profound impact on the
family—emotionally, physically, and fiscally. Fortunately, the birth incidence of spina bifida and anencephaly is decreasing in many areas of the world as a result
of maternal screening programs (maternal serum tests
and antenatal ultrasound) and more recently, the administration of folic acid to women of childbearing age.
In prenatal imaging, three-dimensional (3-D) ultra-
sound and fetal magnetic resonance imaging (MRI)
are newer techniques that are making a positive impact,
especially for precise localization of spina bifida and
complete delineation of associated abnormalities. This
precise information is useful for prognosis and possibly
for prenatal surgery. Prenatal surgery for closure of
myelomeningoceles is a relatively new procedure that is
practiced in only a few centers at this time.
DEVELOPMENTAL ANATOMY
Embryology of the Spine
The precursors of the spinal cord and surrounding spinal
column develop in the third and fourth week after
1
before 2000, but
2,3
and the
5-9
4
Cur-
MYELOCYSTOCELE
DIASTEMATOMYELIA
SCOLIOSIS AND KYPHOSIS
SACRAL AGENESIS
CAUDAL REGRESSION
SIRENOMELIA
SACROCOCCYGEAL TERATOMA
PRESACRAL FETAL MASS
conception (fifth and sixth menstrual weeks). During the
third conceptual week, the bilaminar germ disc evolves
into the trilaminar germ disc, which consists of the ecto-
derm layer (part of the amniotic cavity), the middle
mesoderm layer, and the endoderm layer (part of the
yolk sac cavity) (Fig. 35-1, A). The mesoderm layer
develops a midline central tube, the notochordal
process, which runs along the long axis of the embryonic
disc. The mesoderm lateral to the notochordal process
has three components: paraxial mesoderm, intermediate
mesoderm, and lateral plate mesoderm. By day 21 conceptual age, the hollow-tube notochordal process has
evolved into a solid cord called the notochord, and the
paraxial mesoderm has developed multiple discrete
bumps called somites, of which there are 37 pairs when
finally developed (Fig. 35-1, B).
The notochord and rest of the intraembryonic mesoderm induce the development of the neural plate in the
ectoderm layer (amniotic cavity side of germ disc), starting
on conceptual day 18. The neural plate grows in length
and breadth until conceptual day 21, when neurulation
begins. Neurulation is the process of folding of the neural
plate into the neural tube, probably induced by the adja-
cent notochord. The lateral edges of the neural folds begin
to fuse dorsally into a closed neural tube in the occipitocervical region, leaving an opening at the cranial end
(cranial neuropore) and the caudal end (caudal neuropore). The hollow center of the neural tube is called the
neural canal, which will become the central canal of the
spinal cord and ventricular system of the brain. By day 24
conceptual age, the cranial neuropore closes, and by day
25 the caudal neuropore closes (Table 35-1).
The cranial end of the neural tube becomes the brain,
and the caudal end becomes the spinal cord. In week 4
1245
1246 PART IV ■ Obstetric Sonography
BA
C
FIGURE 35-1. Cross section of trilaminar embryonic disc (germ disc). A, Cross section of midportion of embryonic
disc 17 days after conception. The notochordal process is a hollow tube (black circle) that lies between the ectoderm (EC) (red) and
endoderm (EN) (green) and is flanked by the mesoderm plate (M) (blue). B, Cross section of midportion of embryo 21 days after
conception. The medial portions of the mesoderm plate (M) (blue) are organizing into somites (s). The ectoderm (EC) (red) is folding at
the midline into the neural fold, which will soon become the neural tube. This folding is induced by the neighboring notochord (solid
black circle). Note that the notochord is now a solid cord that has evolved from the hollow process of day 17. C, Cross section of embryo
midportion at 28 days after conception. The neural fold has evolved into a closed neural tube (hollow red ovoid structure) that has sepa-
rated from its ectoderm layer (EC) (red). The somites have ruptured along the medial sides. Migrating cells from the somites (the sclerotome) envelop the neural tube (red ovoid) and become the vertebral arches. The sclerotome surrounding the notochord (black circle)
becomes the vertebral bodies and intervertebral discs. The notochordal remnants differentiate later to become the nucleus pulposus of the
discs. The rest of the notochordal cells degenerate and disappear. AC, Amniotic cavity; EN, endoderm; M, mesoderm; YS, yolk sac.
(Illustrations by Karen Sauerbrei, RT, BA.)
conceptual age, after the neural tube has formed, the
adjacent 37 pairs of somites in the intraembryonic mesoderm give rise to the vertebral bodies and vertebral arches
that will surround the spinal cord. A group of cells, (the
sclerotome, migrates from the somites and surrounds
the adjacent neural tube and the notochord. The ventral
portion of the sclerotome surrounds the notochord and
forms the rudiment of the vertebral body. The dorsal
portion of the sclerotome surrounds the neural tube and
forms the precursors to the vertebral arch (Fig. 35-1, C).
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