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CHAPTER

34

The Fetal Brain

Ants Toi and Deborah Levine

SUMMARY OF KEY POINTS

• Protocol-based ultrasound carefully performed

by a knowledgeable and experienced examiner

following established guidelines is very sensitive in

evaluating the central nervous system

(CNS).

• Ventriculomegaly can be due to many underlying

conditions, including obstruction, destruction, and

dysmorphism, or a combination.

• In cases of brain abnormalities in which additional

morphologic or functional information is needed beyond

that available with ultrasound, magnetic resonance imaging

can be helpful.

• Best results in assessment of complex CNS abnormalities

are obtained when there is a multidisciplinary consultation

and collaboration among specialists in imaging, genetics,

and prenatal and postnatal care.

CHAPTER OUTLINE

DEVELOPMENTAL ANATOMY

Embryology

Sonographic Anatomy

Variants (Usually Normal)

Choroid Plexus Cysts

Blake Pouch Cyst

Cavum Veli Interpositi

VENTRICULOMEGALY AND

HYDROCEPHALUS

Pathogenesis of Ventriculomegaly

Ultrasound Evaluation of

Ventriculomegaly

SPECIFIC ABNORMALITIES

ERRORS OF DORSAL INDUCTION

Anencephaly and Exencephaly

Cephalocele and Encephalocele

Ciliopathies

Joubert Syndrome

Meckel-Gruber Syndrome

Amniotic Band Sequence/Limb–Body

Wall Complex

Cranial Changes in Spina Biida

ERRORS OF VENTRAL INDUCTION

Holoprosencephaly

Posterior Fossa and Cerebellum

Dandy-Walker Malformation

Vermis Hypoplasia or Dysplasia

Mega–Cisterna Magna

Rhombencephalosynapsis

Other Posterior Fossa Abnormalities

Arachnoid Cysts

Malformations of Cortical Development

Microcephaly

Macrocephaly and Megalencephaly

Hemimegalencephaly

Lissencephaly

Focal Cortical Changes

Other Malformations of Cortical

Development

Tuberous Sclerosis

Agenesis and Dysgenesis of Corpus

Callosum

Absence of Septi Pellucidi and

Septo-Optic Dysplasia

INTRACRANIAL CALCIFICATIONS

INFECTIONS

VASCULAR MALFORMATIONS

Thrombosis of Dural Sinuses

Hemorrhagic Lesions

Hydranencephaly

TUMORS

CONCLUSION

Acknowledgments

Anomalies of the central nervous system (CNS) are the most

common cause of referral for prenatal diagnosis and result

in great anxiety for parents. CNS anomalies occur with a frequency

of about 1.4 to 1.6 per 1000 live births but are seen in about 3%

to 6% of stillbirths. 1 he increased use of maternal serum alphafetoprotein

(MS-AFP) screening and irst-trimester nuchal

translucency (NT) screening has resulted in increased numbers

of pregnancies being referred for evaluation of the CNS and

suspected anomalies. Fortunately, protocol-based ultrasound

carefully performed by a knowledgeable and experienced examiner

following established guidelines is very sensitive in evaluating

the CNS. 2-6 Routine scanning is currently recommended at 18

to 20 weeks of gestation. Although many cerebral anomalies are

detectable in the irst trimester and early second trimester, others

develop or become apparent only later in pregnancy. 7-11

Magnetic resonance imaging (MRI) has become an important

supplement ater initial ultrasound evaluation. Multiparametric

MRI using special sequences allows evaluation of areas that are

diicult to assess with ultrasound, can be used to evaluate tissue

properties beyond morphology, and provides new insights into

ischemia, tumor characteristics, bleeding, brain metabolism, and

neural tracts, which can allow unprecedented clariication of

suspected disorders. 12-15 Debate continues regarding the role of

ultrasound versus MRI in evaluating the fetal CNS. 16,17 We believe

that ultrasound will continue to be the initial screening modality

and that MRI will increasingly be used to clarify indings. he

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