L. Gindes

Prediction of microcephaly at birth using three reference ranges for fetal head circumference: can we improve prenatal diagnosis?

To evaluate the prediction of microcephaly at birth (micB) using established and two new reference ranges for fetal head circumference (HC) and to assess whether integrating additional parameters can improve prediction.

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

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation

OBJECTIVESnTo elaborate the imaging phenotype associated with a homozygous c.743Cxa0>xa0del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family.nnnMETHODSnWe analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation.nnnRESULTSnThe imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).nnnCONCLUSIONSnThe novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743Cxa0>xa0del frameshift mutation in the DAG1 gene.

Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero

To construct a reference range for a new vertical measurement of the fetal head and to assess whether its combination with fetal head circumference (HC) can prevent the misdiagnosis of microcephaly in fetuses with an acrocephalic‐like head deformation.

Application of a novel prenatal nomogram for vertical cranial biometry can improve accuracy of microcephaly diagnosis in utero

To construct a reference range for a new vertical measurement of the fetal head and to assess whether its combination with fetal head circumference (HC) can prevent the misdiagnosis of microcephaly in fetuses with an acrocephalic‐like head deformation.

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.

EP08.16: New fetal reference charts for evaluation of anterior horns of the lateral ventricles applied to cases with ventricular anomalies: Electronic Poster Abstracts

We followed cysts in the majority (60%) of fetuses with normal anomaly scan. Results: The CVI cysts were more common in fetuses with brain anomaly compared to normal fetuses and fetuses with extra-CNS anomalies (23% versus 18.3% and 18% respectively; p value<0.01). The most common brain anomaly in fetuses with cyst was Dandy–Walker spectrum (47%) and in fetuses without cyst was ventriculomegaly (36%). The mean size of CVI cysts in normal fetuses was 4.6± 1.1mm (3-9.5mm). Also in fetuses with brain abnormality it was 9.2±3.7mm (3.3-16mm) compared to 5.8±1.9mm (3.9-9.7mm) in fetuses with extra-CNS anomalies. There was a significant difference between cysts size in normal fetuses and fetuses with brain anomalies (p value<0.01) and the cut-point was 7.1mm with a sensitivity of 70%, specificity of 98%. In normal group, only 3 cases had cyst size larger than 7.1mm and in these cases and all other followed cases the cysts resolved during pregnancy or after birth. Conclusions: The prevalence of CVI cysts is more common in fetuses with brain anomaly compared to normal fetuses and fetuses with extra-CNS anomalies. In fetuses with a CVI cyst size >7.1 mm in second trimester you need a more detailed brain examination. In normal fetuses with isolated CVI cysts, usually outcome is favourable.

EP08.01: Dysgyria, brainstem asymmetry and midline anomalies: featuring fetal brain findings associated to a dominant TUBB3 mutation: Electronic Poster Abstracts

K.K. Haratz1,2, Z. Leibovitz3,1, D. Lev1,4, M. Tamarkin1, Y. Shalev1, L. Ben-Sira5, L. Gindes6, T. Lerman-Sagie7 1Fetal Neurology Unit, Ultrasound in Obstetrics and Gynecology Unit, Wolfson Medical Centre, Holon, Israel; 2Ultrasound in Obstetrics and Gynecology Unit, Lis Maternity Hospital, Tel Aviv, Sourasky Medical Centre, Tel Aviv, Israel; 3Obstetrics and Gynecology, Bnai-Zion Medical Centre, Haifa, Israel; 4Department of Genetics, Wolfson Medical Centre, Holon, Israel; 5Department of Radiology, Tel Aviv, Sourasky Medical Centre, Tel Aviv, Israel; 6Obstetric and Gynecological Ultrasound Unit, Wolfson Medical Centre, Ramat-Gan, Israel; 7Pediatric Neurology Unit, Wolfson Medical Centre, Holon, Israel

The cerebellar “tilted telephone receiver sign” enables prenatal diagnosis of PHACES syndrome

OBJECTIVESnTo describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle.nnnMETHODSnThe registries of seven prenatal diagnosis centers were searched for cases with PF findings and a postnatal diagnosis of PS. All records were evaluated for ultrasound and MRI findings and the postnatal outcome. PS was diagnosed after birth according to the consensus statement on diagnostic criteria for PS from 2009. The imaging findings of the PS fetuses were compared to a group of consecutive cases with fetal UCH, whose postnatal diagnosis was not PS.nnnRESULTSnThe PS group included 10 fetuses. All were referred due to UCH accompanied by an ipsilateral retrocerebellar cyst. All pregnancies resulted in livebirths, all newborns had a large segmental facial hemangioma. In all PS fetuses the affected cerebellar hemisphere was upwardly displaced by an ipsilateral PF cyst communicating with an asymmetrically distended 4th ventricle. An upwardly rotated and deviated vermis merged with the contralateral cerebellar peduncles forming an elongated oblique connection between the cerebellar hemispheres, resulting in a unique cerebellar shape, a tilted telephone receiver sign (TTRS), on the coronal plane through the upper vermis.The non-PS group included 11 fetuses with UCH: clastic cerebellar lesions (8) and a unilateral PF arachnoid cyst (3). The TTRS was not depicted in any of them (pxa0<xa00.0005).nnnCONCLUSIONSnThe cerebellar TTRS is a specific fetal imaging feature of PHACES syndrome enabling its prenatal diagnosis.

Placental pathology and neonatal outcome in small for gestational age pregnancies with and without abnormal umbilical artery Doppler flow

OBJECTIVEnTo compare neonatal outcome and placental pathology in cases of small for gestational age (SGA) according to umbilical artery (UA) Doppler flow.nnnSTUDY DESIGNnPregnancy and placental reports of SGA neonates (birth-weight <10th), born between 2008 and 2017 were compared between cases with normal and abnormal UA Doppler indices. Placental lesions were classified to malperfusion lesions and inflammatory responses.nnnRESULTSnThe abnormal Doppler group (nu202f=u202f66) delivered at an earlier gestational age, compared to the normal Doppler group (nu202f=u202f92). Placentas from the abnormal Doppler group were characterized by a higher rate of maternal malperfusion lesions, while placentas from the normal Doppler group exhibited a higher rate of chronic villitis. Neonatal outcome was independently associated with abnormal Doppler, gestational age and birth weight <5th percentile.nnnCONCLUSIONnSGA may involve a vascular mechanism, associated with abnormal Doppler flow and placental malperfusion, and an inflammatory mechanism, with normal Doppler flow and chronic villitis.