Carvalho, JS

Gordin Kopylov, L

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P01.01: Wide and elongated aortic arch: a marker for chromosomal and genetic abnormalities

St George's Online Research Archive

28/06/2018, 23:27ScholarOne Abstracts - Abstract proof popupPage 1 of 2https://isuog2018.abstractcentral.com/submission?PARAMS=xi…K8WinU62dnMiqTVQpm2Zj357EFJgpi8gFPMjE13h7q2Z3VNPXHK3vF5RBView AbstractSUBMISSION ROLE: General Abstract SubmissionCONTROL ID: 3002275TITLE: Wide and elongated aortic arch: a marker for chromosomal and genetic abnormalitiesAUTHORS (FIRST NAME, LAST NAME): Julene S. Carvalho , Lital Gordin KopylovINSTITUTIONS (ALL): 1. Brompton Centre for Fetal Cardiology, Royal Brompton Hospital, London, UnitedKingdom. 2. Molecular & Clinical Sciences Research Institute, St George's Hospital University of London, London, UnitedKingdom. 3. Ultrasound Unit, Department of Obstetrics and Gynecology, Assaf Harofeh Medical Center, Tel Aviv, Israel. 4. Sackler School of Medicine, Tel Aviv University , Tel Aviv, Israel. ABSTRACT BODY: Objectives: The significance of a structurally normal but abnormally shaped aortic arch has not beeninvestigated in fetal life. We aim to report the association between abnormal aortic arch morphology andchromosomal and genetic abnormalities.Methods: This is a retrospective case-control study. We report four cases of an abnormally shaped, wideaortic arch observed at gestational age (GA) of 20 to 23weeks (w), that were subsequently diagnosed with achromosomal (n=1) or a gene abnormality (n=3). We compared the width of the aortic arch in these cases withthat of normal fetuses (n=8, 15 measurements, at 19 to 23w). All measurements were made on a sagittal viewof the aorta, from the anterior wall of the ascending aorta to the anterior wall of the descending aorta (outer-to-outer), at the level of the right pulmonary artery. In the control group, aortic width was measured by a singleobserver who was blinded to the values in the abnormal cases.Results: The figure shows aortic width in cases and controls at 19-23w and suggests a linear positiverelationship between arch diameter and GA (arch width = 0.8864*GA-7.2442). Average aortic width was11.7mm in controls versus 16.4mm in the cases. The table shows details of the four cases.Conclusions: Our preliminary data suggest that sagittal views of the aorta may provide additional importantinformation with regard risk of chromosomal and genetic abnormalities.Additional detailsCURRENT TOPIC: ObstetricsCURRENT SUB-TOPIC: 02. Fetal heart, CHD and cardiac functionPRESENTATION TYPE: No PreferenceAWARDS:KEYWORDS: Fetal heart, Aorta, Genetics, Chromosomal anomalies.SUPPLEMENTAL DATA: noneTABLE:Case#GAAortic width(mm)Other scan findings Gene or chromosomal abnormality Outcome1 21w6d 16.4Small muscularVSDDuplication of long arm ofchromosome 9TOP2 20w4d 19Dysplastic mitralvalveNeonatal Marfan TOP3 20w6d 13.8 No abnormalities SMAD geneAlive andwell4 23w0d 16.6 Bilateral SVCs Genetic syndrome TOPd = days; SVC = superior vena cava; TOP = termination of pregnancy; VSD = ventricular septal defect;w = weeksISUOG2, 1 3, 428/06/2018, 23:27ScholarOne Abstracts - Abstract proof popupPage 2 of 2https://isuog2018.abstractcentral.com/submission?PARAMS=xi…K8WinU62dnMiqTVQpm2Zj357EFJgpi8gFPMjE13h7q2Z3VNPXHK3vF5RB© Clarivate Analytics | © ScholarOne, Inc., 2018. All Rights Reserved.ScholarOne Abstracts and ScholarOne are registered trademarks of ScholarOne, Inc.ScholarOne Abstracts Patents #7,257,767 and #7,263,655.! @ScholarOneNews | " System Requirements | # Privacy Statement | $ Terms of UseProduct version number 4.15.1 (Build 33). Build date Jun 28, 2018 11:52:46. Server c559prhs1as

Wide and elongated aortic arch: a marker for chromosomal and genetic abnormalities

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Wide and elongated aortic arch: a marker for chromosomal and genetic abnormalities

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