K.K. Haratz

The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.

Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the ‘brain shadowing sign (BSS) as a novel sonographic marker for craniosynostosis. Subjects and Methods: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings. Results: The BSS was clearly depicted in all 24 cases on the first analysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations. Discussion: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted.

The fourth ventricle index – a sonographic marker for severe fetal vermian dysgenesis / agenesis

Prenatal diagnosis of midbrain‐hindbrain (MB‐HB) malformations relies primarily on abnormal size and shape of the cerebellum and retrocerebellar space, particularly ‘open fourth ventricle’ (4V), the most common indicator of MB‐HB malformations. The aim of this study was to present the fourth ventricle index (4VI), and to evaluate its role as a marker for severe vermian dysgenesis/agenesis in cases without open 4V.

Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI

Objective: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). Methods: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. Results: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal. Conclusions: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis.

OC06.02: Prenatal diagnosis of brainstem anomalies: phenotypic spectrum and neuroimaging features

K.K. Haratz1,2, Z. Leibovitz1,3, P.S. Oliveira4, L. Gindes10,1, N. Raz1, L. Dafna1, M. Tamarkin1, Y. Shalev1,2, G. Malinger5,2, L. Schreiber6, D. Kidron7, A. Arad8, S. Egenburg8, D. Lev1,9, L. Ben-Sira11,2, A.F. Moron12, G. Kasprian13, D. Prayer14, F. Viñals15, A. Fink16, G. McGillivray17, R. Leventer18,19, C. Garel20, A. Poretti21,22, T. Lerman-Sagie23,1 1Fetal Neurology Unit, Ultrasound in Obstetric Gynecology Unit, Wolfson Medical Centre, Holon, Israel; 2Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 3Department of Obstetrics and Gynecology, Bnai-Zion Medical Centre, Haifa, Israel; 4DDI – Federal University of São Paulo – UNIFESP, São Paulo, Brazil; 5Obstetric Gynecology Ultrasound Unit, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel; 6Department of Pathology, Wolfson Medical Centre, Holon, Israel; 7Pathology, Meir Medical Centre, Kfar Saba, Israel; 8Department of Pathology, Bnai-Zion Medical Centre, Haifa, Israel; 9Institute of Genetics, Wolfson Medical Centre, Holon, Israel; 10Obstetric Gynecology Ultrasound Unit, Wolfson Medical Centre, Ramat-Gan, Israel; 11Radiology, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel; 12Fetal Medicine Discipline, Department of Obstetrics, Federal University of São Paulo, São Paulo, Brazil; 13Medical University of Vienna, Vienna, Austria; 14Department of Radiology, Medical University of Vienna, Vienna, Austria; 15Clinica Sanatorio Aleman, Centro AGB Ultrasonografia, Concepcion, Chile; 16Medical Imaging, Royal Children’s Hospital, Melbourne, VIC, Australia; 17Murdoch Children’s Research Institute, Royal Women’s Hospital, Mercy Hospital for Women, Melbourne, VIC, Australia; 18Neurology, Royal Children’s Hospital, Murdoch Children’s Research Institute, Melbourne, VIC, Australia; 19Department of Pediatrics, University of Melbourne, Melbourne, VIC, Australia; 20Hôpital d’Enfants Armand-Trousseau, Paris, France; 21Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russel H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA; 22Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA; 23Pediatric Neurology Unit, Wolfson Medical Centre, Holon, Israel

Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction.

Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel’s deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a ‘golf ball’ sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted.

EP08.20: Kinked fetal brainstem: an early sign of severe CNS malformations: Electronic Poster Abstracts

beats and pericardial effusion. No calcifications were detected in the brain, liver, spleen, and placenta. Maternal serology for intrauterine infection and tests for ANA, anti-SSA and anti-SSB were negative. Ultrasound at 27 week revealed calcifications in myocardium, caudothalamic groove and liver. At 32 weeks, multiple bilateral thalamic, brainstem, and striatal calcifications were detected with a unilateral parenchymal temporal lobe cyst. Extensive myocardial calcifications were noted with deterioration in cardiac function. In view of the fetal findings and previous family history of the similar presentation and grave outcome, the couple chose to terminate the pregnancy. Amniotic fluid was taken for the AGS genetic analysis. Fetal biallelic mutations in TREX1 gene were detected in the amniotic fluid and the preserved DNA of the previous affected sibling. AGS is a genetic disease associated with a high risk of recurrence. It mimics congenital infection and should be considered in cases with negative TORCH workup. Myocardial calcifications and arrhythmia may be the earliest manifestations of AGS due to TREX1 mutation.

Ultrasound Nomograms of the Fetal Optic Nerve Sheath Diameter

OBJECTIVEnu2002To construct prenatal age-specific reference intervals for sonographic measurements of the optic nerve sheath diameter (ONSD) during gestation in normal fetuses.nnnMATERIALS AND METHODSnu2002Prospective cross-sectional study of fetuses assessed in antenatal ultrasound units between 2010 and 2014. The examination was based on a technique for the sonographic assessment of ONSD previously published by our group.u200aThe mean values and SDs of the ONSD were modeled as a function of the gestational week by curve estimation analysis based on the highest adjusted R2 coefficient. Repeatability tests were performed to assess intraobserver variability and interobserver agreement.nnnRESULTSnu2002During the study period 364 healthy fetuses were enrolled. The mean values for the ONSD varied from 0.6u200amm at 15u200a-u200a16 weeks to 2.8u200amm at 37u200a-u200a38 weeks. The ONSD grows in a linear fashion throughout gestation, with a quadratic equation providing an optimal fit to the data (adjusted R2u200a=u200a0.957).nnnCONCLUSIONnu2002Sonographic age-specific references for the fetal ONSD are presented. This data may assist in the decision-making process in fetuses with a suspected increase in intracranial pressure, or anomalies affecting the development of optic stalks, such as optic hypoplasia and septo-optic dysplasia.

Prenatal diagnosis of brainstem anomalies

Prenatal diagnosis of brainstem anomalies is important due to the usually associated neurodevelopmental impairment and genetic implications. The extreme developmental changes that the brainstem and cerebellum undergo during fetal life pose a challenge for the characterization and definition of the different malformations. The present review aims to demonstrate the normal development of the fetal brainstem and to present the main features required for diagnosis of its anomalies according to available data in the medical literature.

Contents Vol. 40, 2016

R. Achiron, Tel Hashomer N.S. Adzick, Philadelphia, Pa. L. Allan, London A.A. Baschat, Baltimore, Md. K.J. Blakemore, Baltimore, Md. T.-H. Bui, Stockholm F.A. Chervenak, New York, N.Y. T. Chiba, Tokyo R. Chmait, Los Angeles, Calif. F. Crispi, Barcelona J.E. De Lia, Milwaukee, Wisc. J.A. Deprest, Leuven G.C. Di Renzo, Perugia J.W. Dudenhausen, Berlin N.M. Fisk, Brisbane, Qld. A.W. Flake, Philadelphia, Pa. U. Gembruch, Bonn M.R. Harrison, San Francisco, Calif. J.C. Hobbins, Denver, Colo. L.K. Hornberger, Edmonton, Alta. E.R.M. Jauniaux, London M.P. Johnson, Philadelphia, Pa. J.-M. Jouannic, Paris P.M. Kyle, London O. Lapaire, Basel S. Lipitz, Tel Hashomer E. Llurba, Barcelona G. Malinger, Tel Aviv G. Mari, Detroit, Mich. M. Martinez-Ferro, Buenos Aires A. McLennan, Sydney, N.S.W. K.J. Moise, Houston, Tex. F. Molina, Granada K.H. Nicolaides, London L. Otaño, Buenos Aires Z. Papp, Budapest R.A. Quintero, Miami, Fla. G. Ryan, Toronto, Ont. J. Rychik, Philadelphia, Pa. H. Sago, Tokyo W. Sepulveda, Santiago P. Stone, Auckland D.V. Surbek, Bern B.J. Trudinger, Westmead, N.S.W. Y. Ville, Paris J.M.G. van Vugt, Nijmegen Clinical Advances and Basic Research

Bilateral Maternal Pelvic Kidneys Presenting as a Tumor Previa: Sonographic Diagnosis and Obstetric Management

Renal ectopia occurs when the kidney fails to ascend normally to the retroperitoneal renal fossa. Bilateral cases have also been reported but are very rare. Pregnancy and labor with maternal renal ectopia provides a unique challenge to the obstetricians attempting to prevent damage to the kidneys during labor and allow safe delivery. We describe a case of congenital bilateral pelvic kidneys assessed and diagnosed by 3D sonography as “tumor previa” and managed accordingly.