3/28/2021

No disclosures A Medley of Fetal Anomalies

Ana Monteagudo, MD

Anencephaly-Exencephaly -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 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 () 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: , 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 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

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

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