a medley of fetal brain anomalies no disclosures
TRANSCRIPT
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A Medley of Fetal Brain Anomalies
Ana Monteagudo, MD
No disclosures
Anencephaly-Exencephaly Sequence
Abnormally shaped headAbsent calvariumCRL may be lagging dates
Echogenic amniotic fluidBest seen with increased gain
Anencephaly-Exencephaly Sequence 10 3/7 weeks
Anencephaly-Exencephaly Sequence11 2/7 weeks
Iniencephaly
19 weeksIniencephaly is an NTD.Retroflexion of the headSpinal abnormalities
Head
Spine
Retroflexion with ONTD
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Posterior Encephalocele
Cranial defectBrain protruding through defect
Posterior Encephalocele14 4/7 weeks
Parietal Encephalocele- Atretic ?
Occipital bone
Parietal boneLambdoid suture
Cephalocele
Sagittal suture
Occipital Encephalocele
Feeding Vessel
Cranial Defect
H.O. EncephaloceleAnterior cephalocele 13 weeks
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Anterior Cephalocele 13 weeks
32 wks
Anterior Encephalocele 25 wks
Anterior Encephalocele
Posterior EncephaloceleMECKEL SYNDROME, TYPE 1; MKS1
TransvaginalTransabdominal
Posterior Encephalocele 34 3/7 weeks
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34 3/7 weeks
Ventriculomegaly, Dilated 3rd & DWM
Dilated 3rd ventricle Absent vermisVentriculomegaly
Lissencephaly
Absence of Gyri & Sulci (Lissencephaly) and Ventriculomegaly
VentriculomegalyDysgenetic Corpus Callosun Pericallosal Artery
Smooth brain surface Absence of Gyri & Sulci 34 3/7 weeks
Cataract
Micrognathia
Cataract and Micrognathia
Walker-Warburg Syndrome
HARD syndrome: hydrocephalus, agyria, and retinal dysplasiaProminent 3rd ventricle
Agenesis of the Corpus Callosum- Indirect Signs
Non-visualization CSP Tear-shaped ventricles
Wide Inter-hemispheric fissure
Upwardly displaced3rd ventricle
Agenesis of the Corpus callosumParallel slit-like, crescent shape lateral ventricle
Falx Absent corpus callosum
Absent pericallosal artery
Non-Visualization of CSP•No fluid filled CSP
•Normal corpus callosum & pericallosal a.
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… this finding should elicit detailed imaging and evaluation of the CC, other cerebral structures and the remaining fetal anatomy. When isolated, such a finding may be considered a variation of normal development.
Dysgenesis Corpus callosum
•Biometry too small, thick
•Obliteration of the CSP
Suspected Septopreoptic variant HPE
Dysgenesis Corpus Callosum Mild & rare subtype of lobar HPEFindings: abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery
Mild & rare subtype of lobar HPEFindings: abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery Suspected Septopreoptic variant HPE
Dysgenesis Corpus CallosumMild & rare subtype of lobar HPEFindings: abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery
Mild & rare subtype of lobar HPEFindings: abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery
Agenesis Septi Pellucidi
visualization of the normal CSP
Fused anterior horns; communicating with the 3rd ventricle
Isolated Agenesis Septi Pellucidi vs. SOD: Tough Diagnosis
Downward pointing anterior hornsFused anterior horns; communicating with the 3rd ventricle
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Lobar HPE vs. Isolated ASP vs. SOD: Tough diagnosis
Septo-Optic-Dysplasia Lobar HPEAgenesis of septi pellucidi
Fused fornixFused anterior horns; communicating with the 3rd ventricle
Downward pointing anterior horns
Amniotic Band Syndrome 12 3/7 weeks
Abnormally shaped headAmniotic membrane: loose, free floating and sticking to the fetus
Amniotic Band Syndrome 12 3/7 weeks
Abnormally shaped head & faceAmniotic membrane: loose, free floating and sticking to the fetus
Posterior EncephaloceleSecondary to Amniotic Band Syndrome 20 5/7 weeks
Posterior encephaloceleHead tethered to the placenta by thick amniotic band.
17 3/7 weeks
Posterior EncephaloceleSecondary to Amniotic Band Syndrome
Abnormally shaped head Posterior encephaloceleHead tethered to the placenta by thick amniotic band.
Amniotic Band Syndrome 17 3/7 weeks
Abnormally shaped headLarge facial cleft Head tethered to the placenta by thick amniotic band.Rt arm with constriction bandLeft hand missing fingers
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Chiari II Malformation22 2/7 weeks
‘Banana’ shaped cerebellumObliteration of the cisterna magnaCranium with the ‘lemon sign’
Ventriculomegaly with dangling choroid plexusPointing ventricleNon-visualization of CSP – absent vs. secondary disruption due to the ventriculomegaly
Myelomeningocele
Bulge in the lumbosacral area
Neural Tube Defect
Splaying Apart of the spinal processes
Normal MASFP
Normal cerebellum and cisterna magna
Normal MASFP
Closed Neural Tube DefectSpinal dysraphism
Hemivertebrae(s)
VACTERL
Vertebral anomalies
Anal atresia
Cardiac anomalies
TE fistula
Renal anomalies
Limb anomalies
19 6/7 weeks
Mild: (10-12 mm)Moderate: (13-15 mm)Severe: (>15 mm)
Serial tomographic axial sections- TVS
Bilateral ventriculomegalyDangling choroid plexus
Ventriculomegaly
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Ventriculomegaly 19 6/7 weeks
Serial tomographic coronal sections- TVS
Ventriculomegaly19 6/7 weeks
Serial tomographic sagittal sections- TVS
Median section- TVS Color Doppler, Pericallosal artery & corpus callosum
Ventriculomegaly- Follow-up30 5/7 weeks
Massive hydrocephalus
Ventriculomegaly-Two different patients similar findings
16 3/7 weeks
Ventriculomegaly-Secondary to Intracranial Hemorrhage (Fetal Stroke)
35 weeks
MacrocephalyBilateral ventriculomegalyDilated 3rd ventricle
Ependymal lining of the ventricles is echogenicEchogenic material within the ventricles Dilated 3rd ventricle
Case #1Ventriculomegaly-Secondary to Intracranial Hemorrhage (Fetal Stroke)
35 weeks
Ependymal lining of the ventricles is echogenicChoroid plexus appears large and heterogeneous
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Ventriculomegaly- TVSSecondary to Intracranial Hemorrhage (Fetal Stroke)
35 weeks
Ependymal lining of the ventricles is echogenicChoroid plexus appears large and heterogeneous
No! Get help
Ventriculomegaly-Secondary to Intracranial Hemorrhage (Fetal Stroke)
Ependymal lining of the ventricles is echogenicParenchymal involvement- moth-eaten appearance
Intracranial Hemorrhage
Choroid plexus Ependymal lining of the ventricles is echogenicAnterior to the choroid plexus there is a large and heterogeneous mass
Agenesis Septi PellucidiSchizencephaly
Anterior coronal sectionNo CSPLarge defect extending to the cranium
30 weeks
Agenesis Septi PellucidiBilateral Open-Lip Schizencephaly
Right Cerebellar Hypoplasia 19 1/7 weeks
Asymmetry of the cerebellar hemispheres
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Right Cerebellar Hypoplasia 19 1/7 weeks
Vermis rotated
Inferior vermian hypoplasia
Right Cerebellar Hypoplasia PHACESRight Cerebellar Hypoplasia PHACES
Asymmetry of the cerebellar hemispheresIrregular or asymmetric cisterna magna
P = Posterior fossa
H = Hemangioma
A = Arterial
C = Cardiac
E = Eyes
S= Sternal
Picture from Internet
Dandy-Walker Malformation20 weeks
Partial or complete vermian agenesisCerebellar hemispheres are splayed apartCisterna magna is enlargedMedian plane the vermis is small, elevated and rotated
Blake’s Pouch Cyst 21 weeks
Expansion of the 4th ventricle into the cisterna magna resulting in a unilocular, avascular cyst ‘Key-hole’ sign in the transverse cerebellar view.
Vermis: normal size with mild to moderate upward rotation.Cisterna magna: normal.
Cavum Veli Interpositi (CVI)20 5/7 weeks
Is an anatomic variation where there is dilatation of the normal cistern of the velum interpositum.If measuring > 11mm is defined as a cavum veli interpositi cyst may be associated with ventriculomegaly
Is an anatomic variation where there is dilatation of the normal cistern of the velum interpositum.If measuring > 11mm is defined as a cavum veli interpositi cyst may be associated with ventriculomegaly
Color Doppler no flow
Arachnoid Cyst16 4/7 weeks
Unilocular, avascular midline cysts that do not communicate with the ventricles
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Thrombosis in the Torcular(Dural Sinus Thrombosis)
Avascular, supratentorial, hyperechogenic mass in the posterior fossa above the cerebellum, surrounded by a triangular sonolucent area (the dilated venous sinus).
Thrombosis in the Torcular(Dural Sinus Thrombosis)
20 wksSize: 3.92 x 1.94 cm
Corpus callosum Cavum septi pellucidi
Clot
Thrombosis in the Torcular(Dural Sinus Thrombosis)
No blood flow
Power Doppler EvaluationPower Doppler Evaluation
Thrombosis at the Torcular
3D reconstruction of the median plane
Corpus Callosum
CSP
Vermis
Thrombosis in the Torcular(Dural Sinus Thrombosis)
Vein of Galen Malformation33 weeks
Supratentorial mid-line translucent elongated cyst with active arteriovenous flow within the cyst demonstrated by color Doppler.
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Straight sinus
V. Galen Malformation
Vein of Galen Malformation
Comet sign or Key-hole appearanceIn 90% of cases there is high-output heart failure with secondary hydrops.
Vein of Galen Malformation
V. Galen Malformation
Corpus callosum
V. Galen Malformation
EGA 21 weeksStraight
sinus
Cytomegalovirus infection
Intraventricular synechia
Cytomegalovirus infection
MicrocephalyVentriculomegalyIntracranial calcifications