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Malformations Tumors Skull: Chiary 2 and 3, cephalocele, Face: Cleft lip and palate Orbits Chen Hoffmann, MD : Tumors Neuroradiology Unit, Department of Diagnostic Imaging Spine: OSD, MMC, associated anomalies Sheba Medical Center Tel-Hashomer, Israel Magn Reson Imaging Clin N Am. 2012 Aug;20(3):605-18. Fetal MRI: head and neck Mirsky DM1, Shekdar KV, Bilaniuk LT.

Rome, Jan 2020

 Chiary 2 Many thanks to all my friends helping me malformation to set this presentation:  Herniation of the Prop. Andrea Rossi vermis and cranio- Prof. Orit Glenn cervical junction through the foramen magnum  Small PF  Absent 4th vent.  Beaked tectal plate

Herniation of the PF through a posterior at the level of C1-C2 and Myelomeningocele occipital defect  Rare condition Dysplastic tentorium Low occipital is also Small PF included in this category Cervico-medullary kink, large massa intermedia, tectal beak, callosal hypogenesis, , cortical malformations

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Abnormalities can be related to calvarial size and shape : hydrocephalus, , tumor : syndromes and malformations Chiari 3 Malformation characterized by a low occipital and high cervical Abnormal shape: head in the pelvis Encephalocele with herniation of posterior fossa contents before birth, abnormal sutures, chiari 2

Childs Nerv Syst. 2015 Nov;31(11):2035-40 Chiari III malformation: a comprehensive review of this enigmatic anomaly. Ivashchuk G1, Loukas M2, Blount JP1, Tubbs RS3, Oakes WJ1.

36 weeks GA: microcephaly, normal biometrics- low position of the head in the 28 weeks GA: microcephaly, abnormal gyral pattern- true microcephaly Pelvis before the labor. CSF spaces are small due to the pressure most probably

A defect of the and dura Herniation of CSF, tissue and menings Occipital, frontal, spheno-orbital, ethmoidal, nasopharyngeal, lateral

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Antenatal Diagnosis of a Rare Defect: Sincipital Encephalocele. Sincipital cephalocele Kehila M, Ghades S, Abouda HS, Masmoudi A, Chanoufi MB. Amniotic band syndrome Case Rep Obstet Gynecol. 2015;2015:613985

Occipital meningocele Occipital meningocele

Multiple malformations, including callosal agenesis, Courtesy Joao Moreno, Brazil meningocele, and PMG

Most common anomaly of the face- 1 in 700 live birth It results from failure of one or both of the medial nasal prominences to fuse and merge with the maxillary prominences during weeks 4–6 of gestation Can be isolated or with associated Occipito-cervical meningocele 21 wks anomalies Courtesy of Erin Schwartz, CHOP AJR July 2004, Volume 183, Number 1 Pictorial Essay Prenatal Diagnosis of Cleft Lip and Cleft Palate Using MRI A. Stroustrup Smith1, J. A. Estroff2 3, C. E. Barnewolt2 3, J. B. Mulliken3 4 and D. Levine .

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80% have involvement of both lip and palate Types: unilateral, bilateral, midline Associated anomalies: trisomy 13 and 18 The position of the tongue is helping to identify the defect

AJR July 2004, Volume 183, Number 1 Pictorial Essay Prenatal Diagnosis of Cleft Lip and Cleft Palate Using MRI A. Stroustrup Smith1, J. A. Estroff2 3, C. E. Barnewolt2 3, J. B. Mulliken3 4 and D. Levine .

Short and flat nose: binder anomaly, Choanal atresia developing anomaly of the maxilla and nose

BMJ Case Rep. 2011; 2011 Binder’s syndrome Upendra Jain,1 Gagan Thakur,2 and Amitabh Kallury1

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 Gap in the globe resulting from the failure of the choroidal fissure to close  Can be isolated or as a part of syndromes

 Micrognathia is a small mandible  Two most common are lymphangioma  Often associated with conditions and as Pierre Robin, Goldenhar and Treacher Collins Imaging is important to the planning of  Often it can serve as a clue for these conditions the delivery  The growth of the mandible is late, so cannot be excluded at 20 Opening the airway immediately when weeks GA  impaired swallowing and the umbilical cord is cut difficulty in breathing, so scheduled CS is usually chosen

Pediatric Radiology October 2001, Volume 31, Issue 10, pp 727-731 First online: MRI imaging of fetal neck masses with airway compromise: utility in delivery planning Nishita Katary et al

Large heterogeneous facial mass seen on US Immature teratoma

Preop fetal MRI Postop fetal MRI

Postnatal MRI confirms findings & demonstrates Anterior neck mass resected in utero areas of fat within the teratoma

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Fetal lymphangioma

Lymphangioma 32 W

Lymphangioma 30 W Capillary hemangioma 29 W

Capillary hemangioma

21 w

32 w (partial regression)

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Abnormal ventricular morphology: angular shape NTD, open defects NTD 30 w twin pregnancy

Chiari II

Chiari II

22 w

Myelomeningocele + Chiari II

20 weeks, MMC

Myelocele: pre and postnatal (same case)

Chiari II

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19 S 24 S 3 gg

No angular morphology Danzer E, et al. Fetal head biometry assessed by fetal magnetic resonance imaging following in utero myelomeningocele repair Fetal Diagn Ther 2007; 22:1-6.

Meningocele Excellent neurological prognosis Courtesy E. Simon Schwartz, CHOP

Suspected , 26 wks Diastematomyelia 20 wks

Anomalies in OSD: Bony Anomalies & Kyphosis Associated Anomalies in OSD: Diastematomyelia

Neonatal MRI

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22w GA: Lumbar spine bony anomaly on US Associated Anomalies in OSD: Syrinx

Postnatal Imaging

Postnatal MRI at one day of age confirms findings of fetal MRI

Spectrum of anomalies Focal agenesis of the lumbar or thoracolumbar spine Caudal regression: the is agenetic Cord can be tethered and terminate low Typically the end of the cord is blunted

Dx: segmental spinal dysgenesis

Sacrococcygeal teratoma:  Most common tumor of the fetus 3 cases  1 in 35-40000 live births  Malignant transformation in utero is rare  Prenatal assessment is needed to plan the surgical procedure  DD- meningocele  Can be cystic, solid or both  Types: 1- external, 2- mostly external, 3- mostly internal, 4- only internal

AJR, October 2006, Volume 187, Number 4 Women's Imaging Diagnosis and Characterization of Fetal with Prenatal MRI Enrico Danzer1, Anne M. Hubbard2, Holly L. Hedrick1, Mark P. Johnson1, R. Douglas Wilson1, Lori J. Howell1, Alan W. Flake1 and N. Scott Adzick

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Thank-You!!

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