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.