Добавил:
Sekretar
kiopkiopkiop18@yandex.ru
t.me/Prokururor I Вовсе не секретарь, но почту проверяю
Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз:
Предмет:
Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_5796_Библиотеки_им_академика_М_И_Перельмана.pdf
470
A
BC
Figure 17–5. Hemivertebra diagnosed at 15 postmenstrual weeks
( arrow in A ), with improvement of scoliosis at 23 postmenstrual weeks
( arrows in B ). Normal clinical examination after delivery but a non-
segmented, fused vertebra was diagnosed by radiograph ( arrow in C ).
(Courtesy of Bronshtein Moshe, MD, Haifa, Israel.)
in the thoracolumbar region; 50% to 75% of patients have
cutaneous stigmata at the site of diastematomyelia.
Chapter 17 Vertebral Anomalies
26
Diastematomyelia is commonly associated with tethering of the spinal cord ~75% of patients and syringohydromyelia in ~50% of patients. Both these abnormalities
must therefore be looked for and excluded in the presence
of diastematomyelia.
27
Cutaneous signs of occult spinal dysraphism are
frequently associated with SCM. Hypertrichosis (hairy
patch) is the most common manifestation (56%); capillary
hemangioma (26%), dermal sinuses (22%), and subcutaneous lipomas (11%) are also identified with increasing
frequency.
28
In a review of the literature, Has et al
29
found
26 reported patients; in 12 the malformation was isolated,
and all of them had a good prognosis.
The use of MRI has been reported and will probably
add information regarding the presence of associated spinal malformations that may be difficult to recognize by US
30
alone.
TETHERED CORD
During the embryonic period, the spinal cord is positioned very low in the spinal canal; however, because
of the accelerated growth of the bones of the vertebrae
compared with the slower growth of the spinal cord,
the cord “ascends” progressively until term to reach the
level of L1–L2.
9 , 31
In the fetus, it is possible to localize
the exact position of the conus medullaris using sagittal
planes (see Figure 17–1 ). When the conus medullaris
is positioned lower than expected, spinal dysraphism
should be considered. Tethered cord syndrome (TCS) is
a neurologic disorder caused by the fixation of the caudal portion of the cord by a tight and/or fatty infiltrated
terminal filum. This results in a tight pull or stretching
on the lower portion of the spinal cord and can lead to
neurologic compromise. The true incidence of primary
TCS is not known. Unlike open neural tube defects,
closed defects such as TCS are usually diagnosed with
the onset of symptoms or found incidentally during
workup of unrelated problems.
ous growth of the spinal column, the onset of symptoms
may differ at different ages.
31
Because of the continu-
32
The syndrome is characterized by progressive neurologic, urologic, and/or orthopedic deterioration. Early diagnosis and treatment can
prevent cord ischemia and functional deterioration. In
some cases, prenatal diagnosis is possible by the demonstration of the conus medullaris in a position below the
expected level for gestational age. Neurosurgical consultation followed by early neonatal surgery is expected to
reduce the risks of neurologic damage and its sequelae,
but it is important to remember that release of prenatally
undiagnosed tethered cord is symptomatic children is
adequate in maintaining neurologic, urologic, and orthopedic functioning.
33
Tethered cord may be isolated or associated with
other pathologies, including lipomata, lipomyelomeningocele, SCM (diastematomyelia), dermal sinus tract, fatty or
tight filum, myelomeningocele (spina bifida or open spine),
and caudal regression.
Prenatal diagnosis has been rarely reported. Sohaey
34
reviewed the literature and presented their own
et al
31
cases, all of them with associated malformations, including
fetuses with vertebral segmentation anomalies, VACTERL
(vertebral, anal, cardiac, tracheal, esophageal, renal, and
limb) association, myelocystocele, fetal tail, and open
neural tube defect. We were able to reach a diagnosis
during the second trimester in an otherwise normal fetus
( Figure 17–7 ).
Recently, Sepulveda et al
35
described a case that
remained unrecognized during first- and second-trimester
US examinations.
CAUDAL REGRESSION SYNDROME
Caudal regression syndrome (CRS) synonyms: sacral agenesis, sacral hypoplasia, sacral regression, corresponds
to a spectrum of anomalies of the caudal end of the
trunk. Malformations vary from isolated partial agenesis of the sacrococcygeal spine to severe malformations,
such as dorsolumbosacral agenesis
Associated malformations are imperforate anus, genitourinary anomalies, and renal dysplasia. The frequency
of caudal regression syndrome is 1 in 7500 births, with
no gender predominance but with an association with a
36
and sirenomelia.
37 – 39
Chapter 17 Vertebral Anomalies
471
A
C
Figure 17–6. Diastematomyelia in a fetus at 23 postmenstrual weeks. Demonstration of the echogenic bone spur ( arrows ) in the coronal ( A ) and
sagittal ( B ) planes is considered pathognomonic of this condition. In a more dorsal coronal plane ( C ), the hemicords are observed ( arrows ). Tethered
cord is commonly present.The arrow in (D) shows a low and dorsally positioned conus medullaris. (Courtesy of Dr. M. Teresa Higueras Sanz, Hospital
Vall d’Hebron, Barcelona, Spain.)
diabetic mother. CRS is due to abnormal retrogressive
differentiation of the developing spine and spinal cord, as
well as disturbance of the caudal mesoderm, with failed
development of the lumbar and sacral spine.
40 – 44
It is more
common in infants of mothers with poorly controlled
diabetes mellitus. Hyperglycemia is the most commonly
recognized teratogen involved in this syndrome. In a
B
D
patient with pregestational diabetes, caudal regression
was diagnosed using transvaginal US.
41
At 9 postmenstrual weeks, shortening of the crown rump length and a
protuberance at the lower spine ( Figure 17–8A ) suggested
CRS. By 14 postmenstrual weeks, the diagnosis was certain
( Figure 17–8B ). Termination of the pregnancy was performed. The specimen was examined and confirmed the
diagnosis ( Figure 17–8C,D ).
The clinical presentation demonstrates a wide spectrum of abnormalities. Sacral agenesis is always associated with narrowing of the hips, hypoplastic gluteal
muscles, and a flat intergluteal cleft. Orthopedic problems
range from isolated deformities of the feet (eg, clubfoot)
to complex deformities of the lower extremities. We
can sonographically distinguish between partial sacral
agenesis ( Figure 17–9A ) and complete sacral agenesis
( Figure 17–9B ). In patients with sirenomelia, complete
AB
Figure 17–7. Tethered cord. (A) Image obtained from a video record-
ing of a fetus at 23 postmenstrual weeks showing a conus medullaris
positioned very low at the level of L5 ( arrow ). (B) The back of the child
following successful tethered cord release; clinical follow-up showed no
neurologic deficit.
lumbosacral agenesis and fused lower extremities are
present.
two cases of early detection of sirenomelia at 11 postmenstrual weeks and 4 days ( Figure 17–10 ) and 12 completed postmenstrual weeks ( Figures 17–11 and 17–12 ),
respectively. In these cases, color and power Doppler
evaluation of the blood vessels in the lower limb and 3D
surface rendering were instrumental. Not only was the
37 , 38
Figures 17–10, 17–11, and 17–12 demonstrate
472
Figure 17–8.
14 postmenstrual weeks, a firm diagnosis was made. (C) The specimen obtained by termination of the pregnancy revealed the deformity of the sacrum
and the fixed, frog leg position of the lower limbs. (D) Radiographic study confirmed the lypoplastic sacrum, bones, and hip joints (Reproduced, with
permission, from Baxi L et al, 1990
Chapter 17 Vertebral Anomalies
AB
CD
Caudal regression syndrome: early sonographic diagnosis. (A) At 9 postmenstrual weeks, the diagnosis was strongly suspected. ( B) At
41
).
diagnosis made easier by the 3D rendering, but it contributed to the meaningful counseling of the couple. Different,
extraskeletal anomalies are often associated with CRS.
Genitourinary deformities include kidney malformations
(agenesis or hydronephrosis) and various forms of duplication of the müllerian ducts. Neurologic deficiencies
such as sensorimotor paresis or urinary bladder dysfunction can occur.
I
A
Iliac wing
II III
Iliac wing
Various imaging methods allow differentiation of two
groups of patients with caudal regression syndrome according to the configuration and level of the conus medullaris.
40
In group 1, spinal US demonstrates a blunt, deformed
conus medullaris that terminates above the normal level
of L1 and is sometimes associated with a dilated central
canal or a cerebrospinal fluid–filled cyst at the lower end
of the conus. In group 2, the conus medullaris is elongated
Iliac
wing
I
B
Figure 17–9. Types of sacral agenesis. (A) Partial: I. sagittal; II. axial; III. coronal. (B) Complete: I. coronal; II. axial; III. coronal (The white arrows
point to the area of missing structures).
II III
Chapter 17 Vertebral Anomalies
473
B
A
C
Figure 17–10.
cord was detected. (C) One large artery is seen in the fused lips. (D) 3D renderings of the fetus. (Courtesy of Dr. Ana Monteagudo.)
Sirenomelia in a fetus at 11 postmenstrual weeks. (A) One femur and two bones in the lower part of the leg are seen. (B) A two-vessel
+
+
A
D
B
C
D
Figure 17–11. Anatomy scan at 11 postmenstrual weeks, 4 days at the time of the first trimester screening. (A) The nuchal translucency measures
8 mm. (B), (C) 3D “thick slice” rendering demonstrating the fused lower limb. (D) One single artery feeds the fused limb. (E), (F) 3D surface rendering
of the feet with the toes. The white arrows point to the fused limb. (Courtesy of Dr. Ana Monteagudo)
474
Chapter 17 Vertebral Anomalies
A
C
B
D
Figure 17–12. Sirenomelia in a fetus at 12 postmenstrual weeks. The pathology was detected at the time of the first trimester screening. (A) 2D gray-
scale image. (B) 3D “thick slice” rendering. (C) 3D surface rendering of the fetus. At termination of the pregnancy, only the lower part of the body could
be “salvaged” showing the pathology (D). (Courtesy of Dr. Ilan Timor-Tritsch.)
and tethered by a thickened filum terminale or intraspinal
lipoma and ends below L1. Patients in group 1 have major
sacral deformities, whereas neurologic disturbances are
more severe in group 2.
40
Prenatal diagnosis is possible, even during the late first
or early second trimester, by failing to demonstrate the
caudal portion of the spine (see Figure 17–8 ).
36 , 43 , 44
REFERENCES
1. ISUOG. Sonographic examination of the fetal central nervous
system: guidelines for performing the basic examination and the
fetal neurosonogram Ultrasound Obstet Gynecol. 2007;29(1):
109–116.
2. Lee W, Chaiworapongsa T, Romero R, et al. A diagnostic approach
for the evaluation of spina bifida by three-dimensional ultrasonog-
raphy. J Ultrasound Med. 2002;21(6):619–626.
3. Pilu G, Ghi T, Carletti A, Segata M, Perolo A, Rizzo N. Threedimensional ultrasound examination of the fetal central nervous
system. Ultrasound Obstet Gynecol. 2007;30(2):233–245.
4. von Koch CS, Glenn OA, Goldstein RB, Barkovich AJ. Fetal magnetic
resonance imaging enhances detection of spinal cord anomalies in
patients with sonographically detected bony anomalies of the spine.
J Ultrasound Med. 2005;24(6):781–789.
5. Blaicher W, Mittermayer C, Messerschmidt A, Deutinger J,
Bernaschek G, Prayer D. Fetal skeletal deformities:The diagnostic
accuracy of prenatal ultrasonography and fetal magnetic resonance
imaging. Ultraschall Med. 2004;25(3):195–199.
6. Barkovich J. Normal development of the neonatal and infant
brain, skull and spine. In: Barkovich J, ed. Pediatric Neuroimaging.
4th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:
17–75.
7. De Biasio P, Ginocchio G, Aicardi G, Ravera G, Venturini PL,
Vignolo M. Ossification timing of sacral vertebrae by ultrasound in
the mid-second trimester of pregnancy. Prenat Diagn. 2003;23(13):
1056–1059.
Chapter 17 Vertebral Anomalies
475
8. Barkovich J. Congenital anomalies of the spine. In: Barkovich J,
ed. Pediatric Neuroimaging. Philadelphia: Lippincott Williams &
Wilkins; 2005:704–772.
9. Zalel Y, Lehavi O, Aizenstein O, Achiron R. Development of the
fetal spinal cord: time of ascendance of the normal conus medullaris
as detected by sonography. J Ultrasound Med. Nov 2006;25(11):
1397–1401; quiz 1402–1393.
10. Unsinn KM, Geley T, Freund MC, Gassner I. US of the spinal cord
in newborns: Spectrum of normal findings, variants, congenital anomalies, and acquired diseases. Radiographics. 2000;20(4):
923–938.
11. Budorick NE, Pretorius DH, Nelson TR. Sonography of the fetal
spine: Technique, imaging findings, and clinical implications. AJR
Am J Roentgenol. 1995;164(2):421–428.
12. Kirpekar M, Cohen HL. Ultrasonography of the normal spine. In:
Timor-Tritsch I, Monteagudo A, Cohen HL, eds. Ultrasonography
of the Prenatal and Neonatal Brain. New-York: McGraw-Hill;
2001:454–465.
13. Selden NR, Nixon RR, Skoog SR, Lashley DB. Minimal tethered
cord syndrome associated with thickening of the terminal filum.
J Neurosurg. 2006;105(3, Suppl):214–218.
14. Gray DL, Crane JP, Rudloff MA. Prenatal diagnosis of neural tube
defects: Origin of midtrimester vertebral ossification centers as
determined by sonographic water-bath studies. J Ultrasound Med.
1988;7(8):421–427.
15. Goldstein I, Makhoul IR, Weissman A, Drugan A. Hemivertebra:
Prenatal diagnosis, incidence and characteristics. Fetal Diagn Ther.
2005;20(2):121–126.
16. Wynne-Davies R. Congenital vertebral anomalies: Aetiology and
relationship to spina bifida cystica. J Med Genet. 1975;12:280–288.
17. Jeanty P, Valero G. Hemivertebra. www.thefetus.net. 2000.
18. Harrison LA, Pretorius DH, Budorick NE. Abnormal spinal curvature in the fetus. J Ultrasound Med. 1992;11(9):473–479.
19. Zelop CM, Pretorius DH, Benacerraf BR. Fetal hemivertebrae:
Associated anomalies, significance, and outcome. Obstet Gynecol.
1993;81(3):412–416.
20. Weisz B, Achiron R, Schindler A, Eisenberg VH, Lipitz S, Zalel Y.
Prenatal sonographic diagnosis of hemivertebra. J Ultrasound Med.
2004;23(6):853–857.
21. Lyngdoh TS, Mahalik S, Naredi B, Samujh R, Khanna S.
Lumbocostovertebral syndrome with associated VACTERL anomaly. J Pediatr Surg. 2010;45(9):e15–e17.
22. Lazebnik N, Bornstein E, Timor-Tritsch I. The utility of volume sonography for the detection of fetal spine abnormalities.
Ultrasound Clin. 2008;3(4):529–539.
23. Wax JR, Watson WJ, Miller RC, et al. Prenatal sonographic diagnosis of hemivertebrae: Associations and outcomes. J Ultrasound Med.
2008;27(7):1023–1027.
24. Pang D, Dias MS, Ahab-Barmada M. Split cord malformation:
1. A unified theory of embryogenesis for double spinal cord malformations. Neurosurgery. 1992;31(3):451–480.
25. Pang D. Split cord malformation: 2. Clinical syndrome. Neurosurgery.
1992;31(3):481–500.
26. Egelhoff JC. MR imaging of congenital anomalies of the pediatric
spine. Magn Reson Imaging Clin N Am. Aug 1999;7(3):459–479.
27. Dick EA, Patel K, Owens CM, De Bruyn R. Spinal ultrasound in
infants. Br J Radiol. 2002;75(892):384–392.
28. Winter RK, McKnight L, Byrne RA, Wright CH. Diastematomyelia:
Prenatal ultrasonic appearances. Clin Radiol. 1989;40(3):291–294.
29. Has R, Yuksel A, Buyukkurt S, Kalelioglu I, Tatli B. Prenatal diagnosis of diastematomyelia: Presentation of eight cases and review of the
literature. Ultrasound Obstet Gynecol. 2007;30(6):845–849.
30. Kulkarni M, Ruparel M, Redkar R. Fetal diastematomyelia: MR
imaging. A case report. Indian J Radiol Imaging. 2009;19(1):
78–80.
31. Bui CJ, Tubbs RS, Oakes WJ. Tethered cord syndrome in children:
A review. Neurosurg Focus. 2007;23(2):1–9.
32. Yamada S, Won DJ, Pezeshkpour G, et al. Pathophysiology of
tethered cord syndrome and similar complex disorders. Neurosurg
Focus. 2007;23(2):1–10.
33. Bowman RM, Mohan A, Ito J, Seibly JM, McLone DG. Tethered
cord release: A long-term study in 114 patients. J Neurosurg Pediatr.
2009;3(3):181–187.
34. Sohaey R, Oh KY, Kennedy AM, Ameli JR, Selden NR. Prenatal
diagnosis of tethered spinal cord. Ultrasound Q. 2009;25(2):83–87,
quiz 93–95.
35. Sepulveda W, Wong AE, Fauchon DE. Fetal spinal anomalies in
a first-trimester sonographic screening program for aneuploidy.
Prenat Diagn. 2011;31(1):107–114.
36. Nagy GR, Csapo Z, Barakonyi E, Nagy B, Rigo J, Jr. Prenatal diagnosis and fetopathological investigation of dorsolumbosacral agenesis.
Pathol Res Pract. 2009;205(7):490–493.
37. Malinger G, Treschan O, Rosen N, Zakut H. Sirenomelia in a twelve
weeks abortus. Early Hum Dev. 1987;15(4):217–220.
38. Monteagudo A, Mayberry P, Rebarber A, Paidas M, Timor-Tritsch
IE. Sirenomelia sequence: First trimester diagnosis with both two
and three dimensional sonography. J Ultrasound Med. 2002;21:
915–920.
39. Pang D. Sacral agenesis and caudal spinal cord malformations.
Neurosurgery. 1993;32(5):755–778, discussion 778–779.
40. Subtila D, Cossondo M, Houffina V, Valata AS, Puccha F. Early
detection of caudal regression syndrome specific interest and findings in three cases. Obstet Gynecol. 1998;80:109–112.
41. Baxi L, Warren W, Collins MH, Timor-Tritsch IE. Early detection
of caudal regression syndrome with transvaginal scanning. Obstet
Gynecol. 1990;75:486–489.
42. Naidich TP, Zimmerman RA, McLone DG, Raybaud CA, Altman
NR, Braffman BH. Congenital anomalies of the spine and spinal
cord. In: Atlas SW, ed. Magnetic Resonance Imaging of the Brain and
Spine. 2nd ed. New York: Lippincott-Raven; 1996:1265–1338.
43. Bashiri A, Sheizaf B, Burstein E, Landau D, Hershkovitz R, Mazor
M. Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks. Arch Gynecol Obstet.
2009;280(3):505–507.
44. Gonzalez-Quintero VH, Tolaymat L, Martin D, Romaguera RL,
Rodriguez MM, Izquierdo LA. Sonographic diagnosis of caudal
regression in the first trimester of pregnancy. J Ultrasound Med.
2002;21(10):1175–1178.
This page intentionally left blank
Page numbers followed by f or t indicate figures or tables, respectively.
INDEX
A
ACC. See Agenesis of corpus callosum (ACC)
Acephalocele
syndromes with, 206t
Acetylcholinesterase (AchE), 180
Age, embryonic and fetal, 24t
Agenesis of corpus callosum (ACC), 228t, 235f,
266, 274f
anatomy of, 236
associated anomalies, 240
Cobblestone complex syndromes,
267–270
counseling couples, 240
definition, 234
diagnosis, 236–238
differential diagnosis, 238
embryology/pathology, 235–236
epidemiology, 234
etiology, 234
with interhemispheric cysts, 238f
lissencephaly/subcortical band heterotopia
spectrum, 263–270
management, 241
neuronal heterotopia, 270–274
partial agenesis, 235f, 239f
prognosis/clinical manifestations, 240–241
recurrence risk, 241
schizencephaly, 274–278
sonographic diagnosis, implications for,
238–239
sonographic screening, implications for,
239–240
sonography, 236f
syndromes in, 240t
Alobar holoprosencephaly, 229f
ball variety, 229f
cup variety, 229f
multiplanar sonography of, 230f
pancake variety, 229f
at 13 weeks, 231f
Alpha-fetoprotein (AFP) molecule, 179
Alveolar ridge, 450f
Anencephaly, 4, 184f
definition, 180
development sequences, 180, 181t (See also
Exencephaly)
fetal face at 21 weeks, 188f
polyhydramnios in, 182
at 31 weeks, 187f
types
holoacrania, 186
merocrania, 186–188, 186f
Angular gyrus
development, 77t–78t
mature brain, 74f–75f
Anomalies
of cerebellum, 283–301
cerebellar disorders, 298–300
cerebellar hypoplasia/atrophy, 294–295
Dandy-Walker complex, 283–292
Joubert syndrome, 298–300
megacisterna magna, 292–294
rhombencephalosynapsis, 295–298
unilateral cerebellar lesions, 300–301
of dorsal induction
cephalocele, 192–207
Chiari II malformation, 207–223
exencephaly–anencephaly sequence,
180–190
iniencephaly sequence, 190–192
spinal dysraphism, 207–223
of ventral induction, 227–244, 228t
prosencephalic cleavage disorders,
227–234, 228t
prosencephalic midline development
disorders, 228t, 234–241
septo-optic dysplasia, agenesis, 228t,
241–244
septum pellucidum, agenesis, 228t,
241–244
Anterior cerebral artery
24 weeks normal brain, 430f
Anterior commissure
development, 2t
mature brain, 57f, 73f
Anterior fontanelle
development, 45, 47f, 49f
as scanning window, 17f–19f, 20, 23f, 31, 37f,
Anterior horn. See also Frontal horn
comments, 126–128, 126t–128t
definition, 124
how to measure, 124–126, 125f
Anterior orbital gyrus, development, 78t
Arachnoid cysts, 351, 363
associated anomalies, 352
definition, 351
differential diagnosis, 353–357
etiology, 352
incidence, 351
obstetric management, 358
pathogenesis, 351–352
pathology, 352
at 16 weeks, 353f
, 10f
46, 63, 84f
at 26 weeks, 355f
prognosis, 357–358
quadrigeminal plate at 23 weeks, 359f
recurrence risk, 352
sonographic diagnosis, 352–353
targeted examination, implications
for, 357
Arachnoid granulations, 66f, 67
Arhinencephaly, 228
Aristaless-related homeobox protein (ARX)
mutations, 264
Arnold-Chiari malformations, 4, 103,
153, 363
type II, 68
at 16 weeks, 219f
at 19 weeks, 215f
at 24 weeks, 217f
Atretic meningoceles, 194
Atrial septal defect (ASD), 182
Atrium of lateral ventricles
comments, 129–130, 129t–132t
definition, 128
how to measure, 128–129, 128f
imaging, 54, 58, 61f, 63t, 68
Autosomal recessive lissencephaly, 267f
Axial planes, 45–46, 45f, 64f, 68f–69f
mesencephalon in, 298
B
“Banana” sign, 153, 209, 212, 217f–221f
at 15 weeks, 221f
Basal nuclei
comments, 151, 151t
definitions, 140
how to measure, 151, 151f
Basis pedunculi, mature brain, 74f
Betamethasone administration, 439
Bilateral choroid plexus cysts.
See Bilateral cysts
Bilateral cysts
at 32 weeks, 356f
in right lateral ventricle, 357f
Bilateral dacrocystocele, case of
detected in utero at 30 weeks, 422f
Bilateral familial anophthalmia
at 15 weeks, 416f
Bilateral microphthalmia
at 15 weeks, 415f
Biometry of fetal brain
basal nuclei, 140, 151f, 151t
corpus callosum, 159–167, 162t–165t,
166f–167f
478 Index
Biometry of fetal brain (Cont’d.)
crown-rump length (CRL), 103–104, 104f,
105t–106t
frontal lobe, 155–159, 155f, 160t–161t
head measurements
biparietal diameter (BPD), 104–107, 107f,
108t–109t
cephalic index, 107–112, 112t
circumference, 112–116, 113t–118t
insula, 140, 151f, 151t
orbital diameters, 116–123, 119f, 119t–123t
posterior fossa
cerebellomedullary cistern (cisterna
magna), 152–155, 152f, 153t–154t
cerebellum, 152–155, 152f, 153t–154t
temporal operculum, 140, 151f, 151t
thalamus, 140, 151f, 151t
ventricular system, transabdominal
sonography of
anterior (frontal) horn of lateral ventricles
and cavum septi pellucidi, 124–128,
125f, 126t–128t
atrium of lateral ventricles, 128–130, 128f,
129t–132t
lateral ventricular width–hemispheric
width ratio, 124, 124f, 125t
posterior (occipital) horn of lateral
ventricles, 130, 133f, 133t–134t
ventricular system, transvaginal sonography of
first trimester, 130–134, 134f–138f, 139t
second and third trimesters, 134–140,
Biparietal diameter (BPD), 97, 104–107, 253f, 332f
comments, 104–107, 108t–109t
definition, 104
how to measure, 104, 107f
orbital diameters, 116–123, 119f, 119t–123t
Blake’s pouch cyst, 284, 285f
MRI of, 288f
sonography of, 288f
Blindsäcke, 135f
Blood vessels of fetal brain, imaging,
Body mass index (BMI), 181
BPD. See Biparietal diameter (BPD)
Brain
circulation, 3D tomographic ultrasound (US)
fetal (See Fetal brain)
ischemia (See Intrauterine insults; Stroke)
Brain stem, 30f, 73f, 74f
mature brain, 73f, 74f
Brain teratoma, 394f, 395f
causing hydrocephaly, 395f
Brain tumors, 442
brain teratoma, 395f
congenital, central nervous system (CNS)
astrocytoma, 395
choroid plexus papilloma, 396–397
cytogenetics, 394
definition, 393
fetus in fetu, 395
glioblastoma multiforme (GBM),
incidence/prevalence, 393
intracranial teratoma, 394–395
139t, 140
429, 430
image, 431f
395–396
f–141f, 141t–150t
medulloblastoma, 396
pathogenesis, 393
pathology, 394–397
primitive neuroectodermal tumor, 396
during fetal and neonatal period, 442
fetus, paramedian plane, 400f
intracranial, fetus-in-fetu at 17 weeks, 396f
pericallosal lipoma, 397–404
clinical aspects, 398
differential diagnosis, 398–400
obstetrical management, 404
prognosis, 404
recurrence, risk of, 400
sonographic/magnetic resonance imaging
diagnosis, 400–404
at 34 weeks, 397f
at 14 weeks of gestation, 441f
at 24 weeks of gestation, 442f
at 40 weeks of gestation, 442f
post mortem picture, 395f
small echogenic brain teratoma, 395f
“Buttock” sign, 289
C
CAD. See Cerebroatrial distance (CAD)
Calcarine fissures, development of, 77t–78f
Calcarine sulcus, 75
Callosal fibers, 235
Callosal sulcus
development, 77t–78t
mature brain, 73f
Callosal thinning, 138
Callosomarginal gyrus, development of, 77t–78t
Callosomarginal sulcus, development of, 81f
Carbon dioxide, cerebral blood flow, 439
Cataract, autosomal familial dominant, 415f
Caudal neuropores, 2t, 3
Caudal regression syndrome (CRS), 470–474
sonographic diagnosis, 472f
Caudate nucleus
development, 2t, 9
imaging, 43, 48t, 54t, 55f
Cavum septi pellucidi (CSP), 241, 252
comments, 126–128, 126t–128t
definition, 124
development, 51f, 53f, 55f–57f, 63, 64f
how to measure, 104, 107f, 124–126, 125f
inversion rendering of, 241
Cavum Vergae, 10, 56f, 63, 64f
CDC. See U.S. Centers for Disease Control and
Prevention (CDC)
CDI. See Color Doppler imaging (CDI)
Central canal
development, 30f, 32f, 61f
mature brain, 73f
Central nervous system (CNS), 15, 229
anomalies of, 297
Chiaro-associated malformations, 211t
development of, 2t, 3t
embryonic (6 to 9 weeks), 23–27, 24t,
25f–32f
Cephalic flexure, 429
Cephalic index (CI), 107–112
comments, 107–112, 112t
definition, 107
how to measure, 107
Cephalocele anomalies
anterior cephaloceles, 193
anterior encephalocele, 199f, 201f
classification of, 193t
in dorsal induction, 192–207
associated anomalies, 195–200
definition, 192
differential diagnosis, 206
etiology, 194–195
incidence, 192
Knobloch syndrome, 200
obstetric management, 190–192, 207
pathogenesis, 193–194
prognosis, 206–207
recurrence risk, 206
sonographic diagnosis, 200–206
Walker-Warburg syndrome, 200
occipital encephalocele, 196f–198f
parietal cephalocele, 195f
posterior encephalocele, 193f, 194f
prognosis for fetuses with, 210t
transabdominal sonography in, 194f
transabdominal volume, 200f
Cerebellar atrophy
definition, 294
diagnosis, 294–295
etiology and pathogenesis, 294
incidence, 294
obstetric management, 295
pathology, 294
prognosis, 295
sonographic diagnosis, implications for, 295
sonographic screening, implications for, 295
Cerebellar disorders, 298–300
definition, 298
diagnosis, 298
differential diagnosis of, 284t, 298–299
etiopathogenesis and associated anomalies, 298
obstetric management, 300
pathology, 298
prognosis, 300
sonographic screening, implications for,
299–300
targeted examinations, implications for, 299
Cerebellar hemisphere, intrauterine
lesion of, 300f
Cerebellar hemorrhage, 342
associated anomalies, 345
definition, 342
differential diagnosis, 346
etiology, 345
incidence, 342–345
obstetric management, 346
pathogenesis, 345
prognosis, 346
sonographic diagnosis, 345–346
Cerebellar hypoplasia, 294–295, 296f, 380f
definition, 294
diagnosis, 294–295
etiology and pathogenesis, 294
incidence, 294
magnetic resonance of, 296f
obstetric management, 295
pathology, 294
prognosis, 295
sonography of, 290
–205f
Index 479
diagnosis, implications for, 295
screening, implications for, 295
Cerebellar peduncles, 3t
Cerebellar vermis
hypoplasia of, 298
measurements of, 287
Cerebellomedullary cistern (cisterna magna)
cystic enlargement of, 287, 290
developement, 11, 41f–42f, 45f, 47f, 57f, 62f,
67f, 69f–71f, 285f
obstetric definition of, 292
Cerebello-oculo-renal syndrome (CORS), 298
Cerebellum, 4
anomalies of
cerebellar disorders, 298–300
cerebellar hypoplasia/atrophy, 294–295
Dandy-Walker complex, 283–292
Joubert syndrome, 298–300
megacisterna magna, 292–294
rhombencephalosynapsis, 295–298
unilateral cerebellar lesions, 300–301
development, 3t, 6f–7f, 9
hypoplasia of, 294
midline portion, 296
Cerebral aqueduct, development, 60
Cerebral circulation
fetal, 427–443 (See also Blood vessels of fetal
brain, imaging)
cerebral blood flow in normal pregnancy,
physiologic changes
fetal behavioral states, 435
fetal breathing movements, 434–435
fetal head compression, 436
fetal heart rate, 434
labor and delivery, 436
plasma glucose concentration, 435
Doppler criteria, 432–434
embryonal cerebral circulation,
development of, 427–428
fetal central nervous system, normal
vascularization of, 428–432
fetal death, 440
arteriovenous malformations, 440–442
brain tumors, vascularization of, 442–443
cerebral vascular abnormalities, 440–443
Galen aneurysm, vein of, 440–442
fetal distress, 439–440
fetuses, normal, 433–434
pharmacological aspects, 439
pregnancies, pathologic
arteriovenous malformations, 439
fetal anemia, 436–437
placental resistance/growth retardation,
437–438
twin discordance, 438–439
technical considerations, 432–434
reconstructed 3D angiography of, 431f
Cerebral cortex, 9
Cerebral hemispheres
developement, 2t, 3t, 4, 5, 6f, 24, 27f, 33f, 52,
68f, 73, 75, 77t–78t
imaging of, 24f, 27f, 33f, 68f
mature brain, 73f–75f
Cerebral vessels, Doppler indices of
reference values, 434t
Cerebroatrial distance (CAD), 69, 72f, 129
Cerebrofrontal horn distance (CFHD), 124, 126
Cerebroposterior horn distance (CPHD), 130
Cerebrospinal fluid (CSF), 192, 251, 251f
pressure, 137, 366
CFHD. See Cerebrofrontal horn distance (CFHD)
Chagas disease. See Trypanosoma cruzi
Chemotherapy, 404
Chiari malformation
type II, 214, 222f
in dorsal induction, 207–223
definition, 208
differential diagnosis, 218
etiology, 210
incidence, 208
obstetric management, 223
pathogenesis, 208–210
prognosis, 218–223
risk of recurrence, 218
sonographic diagnosis, 210–218
spine volume, 223f
Choroid fissure, 6f, 10f
Choroid plexus (CP), 104, 128
cysts
bilateral/septated, views of, 367f, 368f
etiology of, 363
at 16 weeks, 367f
at 19 weeks, 368f
developement, 2t, 3t, 6f, 7f, 11
imaging, 41f–45f, 51f, 55f, 60–63
papillomas, 399f, 402–403
prenatal/postnatal magnetic resonance
imaging (MRI), 403f, 404f
rapid development of, 401f
Chromosomal anomalies, 234, 240
CI. See Cephalic index (CI)
Cingulate gyrus, 10
Cingulate sulcus
development of, 73, 73f, 75, 77t–78t, 79f–81f
Circle of Willis, 95f
Circular sulcus, development of, 77t–78t
Circumference, head, 97, 112–116, 252
comments, 112–116, 113t–118t
definition, 112
how to measure, 112, 248
macrocephaly in, 257f
thanatophoric dysplasia in, 257f
Cisterna
cisterna ambiens, 67, 69f
cisterna magna
(See Cerebellomedullary cistern)
Cleft lip, 449–452
bilateral
with flat face, 452f
with multisectional analysis of
US volume, 451f
second trimester, 450
in third trimester of gestation, 450f
unilateral
multisectional analysis of, 451f
third trimester of gestation, 450f
Cleft palate, 363, 449–452
bilateral
with flat face, 452f
with multisectional analysis of
US volume, 451f
second trimester, 450f
f
f
in third trimester of gestation, 450f
unilateral
multisectional analysis of, 451f
third trimester of gestation, 450f
CMV. See Cytomegalovirus (CMV)
Cobblestone complex syndromes (CCS),
267–270
associated anomalies, 268
definition, 267
etiology, 268
incidence/prevalence, 268
magnetic resonance imaging diagnosis,
269–270
obstetric management, 270
pathogenesis, 268
pathognomonic feature, 268
pathology, 268
at 24 weeks, 269f
prognosis, 270
risk of recurrence, 268
sonography of
diagnosis, 268–269
screening, implications for, 270
targeted ultrasound examination,
implications for, 270
Cobblestone cortex, type 2, 263
Collateral sulcus
development, 74f, 77t–78t
mature brain, 74f
Color Doppler imaging (CDI)
fetal and neonatal cerebral circulalion,
67, 92, 95
Commissural plate, 6f, 9
Common carotid arteries (CCA)
coronal power Doppler image of, 429f
Comparative genome hybridization (CGH)
techniques, 249
Conic vascular network
apoptotic degeneration of, 418f
Coronal planes, prenatal, 31–45, 48t, 237f
sonographic anatomical landmarks, 31–33,
48t, 49f–53f
structures seen
frontal sections, 33, 49f–53f
midcoronal sections, 33–42, 41f, 44f,
51f, 53f
occipital sections, 41f, 42–43, 50f–51f, 53f
sagittal sections, 43–45
Corpora quadrigemina, 54t
Corpus callosum (CC), 252f, 430f
agenesis (
See Agenesis of corpus callosum)
comments, 159, 162t–165t, 166f–167f
definition, 159
development of, 2t, 9, 10f
how to measure, 159, 162t–163t
hypoplasia of, 236, 238
imaging, 41f–42f, 44f–45f, 49f, 55f, 57f
14 weeks, 41f, 45f
16 weeks, 42f, 44f
18 weeks, 49f–50f, 55f–56f
22 weeks, 57f
23 weeks, 57f
28 weeks, 56f
with lipomas, 238f
two-dimensional (2D) power Doppler
image, 430f