Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 16 , ISSUE 2 ( April-June, 2022 ) > List of Articles

CASE REPORT

Eventration of the Diaphragm in Trisomy 18: Providing Information and Helping Choose a Treatment and Management Plan with an Exact Diagnosis

Kaoru Ito, Junichi Hasegawa, Yoko Nishimura, Natsumi Furuya, Chika Homma, Haruhiro Kondo, Nao Suzuki

Keywords : Eventration of the diaphragm, Perinatal care, Trisomy 18

Citation Information : Ito K, Hasegawa J, Nishimura Y, Furuya N, Homma C, Kondo H, Suzuki N. Eventration of the Diaphragm in Trisomy 18: Providing Information and Helping Choose a Treatment and Management Plan with an Exact Diagnosis. Donald School J Ultrasound Obstet Gynecol 2022; 16 (2):160-162.

DOI: 10.5005/jp-journals-10009-1926

License: CC BY-NC 4.0

Published Online: 05-07-2022

Copyright Statement:  Copyright © 2022; The Author(s).


Abstract

Trisomy 18 is one of the most common aneuploidies, and its prognosis is controversial due to the low survival rate associated with it. Thus, intensive management and treatment strategies for this genetic trisomy syndrome are essential. Because patients with trisomy 18 exhibit severe neurodevelopmental delay in long-term survival, treatment strategies can be complex and difficult. This study describes a complex case of trisomy 18 with rapid changes and complications in the third trimester. These complications made differentiation between diaphragmatic hernia and diaphragmatic eventration on ultrasound difficult. Since this case was associated with rapid changes and required rapid delivery, close examination was not possible. Further, it is difficult to provide information and help decide whether to intervene without an exact diagnosis. In conclusion, an interdisciplinary team approach, including parental involvement, is vital for helping families to make appropriate decisions. For this reason, an accurate ultrasound diagnosis is necessary.


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