3/28/2021
No disclosures A Medley of Fetal Brain Anomalies
Ana Monteagudo, MD
Anencephaly-Exencephaly Anencephaly-Exencephaly Sequence Sequence 10 3/7 weeks
Abnormally shaped head Echogenic amniotic fluid Absent calvarium Best seen with increased gain CRL may be lagging dates
Iniencephaly Anencephaly-Exencephaly Sequence 11 2/7 weeks Iniencephaly is an NTD. 19 weeks Retroflexion of the head Spinal abnormalities Retroflexion with ONTD Spine
Head
1 3/28/2021
Posterior Encephalocele Posterior Encephalocele
14 4/7 weeks
Cranial defect Brain protruding through defect
Parietal Encephalocele- Atretic ? Occipital Encephalocele
Cranial Defect
Cephalocele
Sagittal suture Parietal bone Lambdoid Feeding Vessel suture
Occipital bone
Anterior cephalocele 13 weeks H.O. Encephalocele
2 3/28/2021
Anterior Cephalocele 13 weeks 32 wks
Anterior Encephalocele Anterior Encephalocele 25 wks
Posterior Encephalocele MECKEL SYNDROME, TYPE 1; MKS1 Posterior Encephalocele 34 3/7 weeks
Transabdominal Transvaginal
3 3/28/2021
Absence of Gyri & Sulci (Lissencephaly) and Ventriculomegaly, Dilated 3rd & DWM Ventriculomegaly
Dilated 3rd ventricle Absent vermis Ventriculomegaly Dysgenetic Corpus Callosun Pericallosal Artery 3/7 Ventriculomegaly 34 weeks Smooth brain surface 3/7 Absence of Gyri & Sulci 34 weeks Lissencephaly
Cataract and Micrognathia Agenesis of the Corpus Callosum- Indirect Signs Walker-Warburg Syndrome
Cataract
Micrognathia Non-visualization CSP Prominent Wide Inter- Tear-shaped HARD syndrome: hydrocephalus, agyria, and retinal dysplasia 3rd ventricle hemispheric fissure ventricles
Agenesis of the Corpus callosum Non-Visualization of CSP Parallel slit-like, crescent shape • No fluid filled CSP lateral ventricle • Normal corpus callosum & pericallosal a.
Upwardly displaced Absent corpus Absent pericallosal 3rd ventricle Falx callosum artery
4 3/28/2021
Dysgenesis Corpus callosum
• Biometry too small, thick • Obliteration of the CSP
… 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 Mild & rare subtype of lobar HPE Mild & rare subtype of lobar HPE Findings: abnormal fornix, absent Dysgenesis Corpus Callosum Findings: abnormal fornix, absent Suspected Septopreoptic variant HPE or hypoplasic anterior corpus or hypoplasic anterior corpus callosum, and unpaired anterior callosum, and unpaired anterior cerebral artery Suspected Septopreoptic variant HPE cerebral artery
visualization of the normal CSP Agenesis Septi Pellucidi Isolated Agenesis Septi Pellucidi vs. SOD: Tough Diagnosis
Fused anterior horns; communicating rd Fused anterior horns; communicating with the 3rd ventricle with the 3 ventricle Downward pointing anterior horns
5 3/28/2021
Lobar HPE vs. Isolated ASP vs. SOD: Amniotic Band Syndrome 12 3/7 weeks Tough diagnosis
Agenesis of septi pellucidi Septo-Optic-Dysplasia Lobar HPE
Abnormally shaped head Amniotic membrane: loose, free Downward pointing anterior horns Fused fornix Fused anterior horns; communicating with the 3rd ventricle floating and sticking to the fetus
12 3/7 weeks Posterior Encephalocele Amniotic Band Syndrome Secondary to Amniotic Band Syndrome 20 5/7 weeks
Abnormally shaped head & face Posterior encephalocele Amniotic membrane: loose, free Head tethered to the placenta by thick amniotic band. floating and sticking to the fetus
Posterior Encephalocele 3/7 Secondary to Amniotic Band Syndrome Amniotic Band Syndrome 17 weeks 17 3/7 weeks
Abnormally shaped head Large facial cleft Abnormally shaped head Head tethered to the placenta by thick amniotic band. Posterior encephalocele Rt arm with constriction band Head tethered to the placenta by thick amniotic band. Left hand missing fingers
6 3/28/2021
Chiari II Malformation Myelomeningocele 22 2/7 weeks
Ventriculomegaly with dangling choroid plexus ‘Banana’ shaped cerebellum Pointing ventricle Obliteration of the cisterna magna Non-visualization of CSP – absent vs. secondary Cranium with the ‘lemon sign’ disruption due to the ventriculomegaly
Neural Tube Defect Closed Neural Tube Defect Spinal dysraphism Normal MASFP Normal MASFP
Normal cerebellum and cisterna magna Bulge in the lumbosacral area Splaying Apart of the spinal processes
VACTERL Ventriculomegaly Serial tomographic axial sections- TVS 19 6/7 weeks Vertebral anomalies Anal atresia Cardiac anomalies TE fistula Renal anomalies Limb anomalies
Bilateral Mild: (10-12 mm) ventriculomegaly Moderate: (13-15 mm) Dangling choroid plexus Hemivertebrae(s) Severe: (>15 mm)
7 3/28/2021
Ventriculomegaly 19 6/7 weeks 19 6/7 weeks Ventriculomegaly Median section- TVS Color Doppler, Pericallosal artery & corpus callosum
Serial tomographic coronal sections- TVS Serial tomographic sagittal sections- TVS
Ventriculomegaly- Ventriculomegaly- Follow-up Two different patients similar findings 30 5/7 weeks
3/7 Massive hydrocephalus 16 weeks
Ventriculomegaly- VentriculomegalyCase #1 -
Secondary to Intracranial Hemorrhage (Fetal35 Stroke)weeks Secondary to Intracranial Hemorrhage (Fetal Stroke)35 weeks
Ependymal lining of the ventricles is echogenic Choroid plexus appears large and heterogeneous Ependymal lining of the ventricles is echogenic Macrocephaly Echogenic material within the ventricles Bilateral ventriculomegaly Dilated 3rd ventricle Dilated 3rd ventricle
8 3/28/2021
Ventriculomegaly- TVS Ventriculomegaly- Secondary to Intracranial Hemorrhage (Fetal Stroke) Secondary to Intracranial Hemorrhage (Fetal Stroke)35 weeks No! Get help
Ependymal lining of the ventricles is echogenic Choroid plexus appears large and heterogeneous
Ependymal lining of the ventricles is echogenic Parenchymal involvement- moth-eaten appearance
Intracranial Hemorrhage Agenesis Septi Pellucidi Schizencephaly
Anterior coronal section Choroid plexus No CSP Ependymal lining of the ventricles is echogenic Large defect extending to the cranium Anterior to the choroid plexus there is a large and heterogeneous mass
Agenesis Septi Pellucidi Right Cerebellar Hypoplasia 19 1/7 weeks Bilateral Open-Lip Schizencephaly
30 weeks Asymmetry of the cerebellar hemispheres
9 3/28/2021
Right Cerebellar Hypoplasia 19 1/7 weeks Right Cerebellar Hypoplasia PHACES P = Posterior fossa H = Hemangioma A = Arterial C = Cardiac E = Eyes S= Sternal
Vermis rotated Inferior vermian hypoplasia
Asymmetry of the cerebellar hemispheres Picture from Internet Irregular or asymmetric cisterna magna
Dandy-Walker Malformation 20 weeks Blake’s Pouch Cyst 21 weeks
Partial or complete vermian agenesis Expansion of the 4th ventricle into the cisterna magna resulting in a unilocular, avascular cyst Cerebellar hemispheres are splayed apart ‘Key-hole’ sign in the transverse cerebellar view. Cisterna magna is enlarged Vermis: normal size with mild to moderate upward rotation. Median plane the vermis is small, elevated and rotated Cisterna magna: normal.
16 4/7 weeks Cavum Veli Interpositi (CVI) Arachnoid Cyst 20 5/7 weeks
Is an anatomic variation where there is dilatation of the normal cistern of the velum interpositum. Unilocular, avascular midline cysts that do not communicate with the ventricles If measuring > 11mm is defined as a cavum veli interpositi cyst Color Doppler no flow may be associated with ventriculomegaly
10 3/28/2021
Thrombosis in the Torcular Thrombosis in the Torcular (Dural Sinus Thrombosis) (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 Thrombosis at the Torcular (Dural Sinus Thrombosis)
Corpus callosum Cavum septi pellucidi
No blood flow
Size: 3.92 x 1.94 cm Clot 20 wks Power Doppler Evaluation
Thrombosis in the Torcular Vein of Galen Malformation (Dural Sinus Thrombosis) 33 weeks Corpus Callosum CSP
Vermis 3D reconstruction of the Supratentorial mid-line translucent elongated cyst with active arteriovenous flow median plane within the cyst demonstrated by color Doppler.
11 3/28/2021
EGA 21 Straight weeks Vein of Galen Malformation Vein of Galen Malformationsinus
V. Galen Malformation Corpus callosum V. Galen Malformation V. Galen Malformation Straight sinus
Comet sign or Key-hole appearance In 90% of cases there is high-output heart failure with secondary hydrops.
Cytomegalovirus infection Cytomegalovirus infection
Microcephaly Ventriculomegaly Intracranial calcifications
Intraventricular synechia
12