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Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review

Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to facilitate early detection. This study presents a case of CdCS...

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Autores principales: Traisrisilp, Kuntharee, Yanase, Yuri, Ake-sittipaisarn, Srimeunwai, Tongsong, Theera
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871365/
https://www.ncbi.nlm.nih.gov/pubmed/35204510
http://dx.doi.org/10.3390/diagnostics12020421
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author Traisrisilp, Kuntharee
Yanase, Yuri
Ake-sittipaisarn, Srimeunwai
Tongsong, Theera
author_facet Traisrisilp, Kuntharee
Yanase, Yuri
Ake-sittipaisarn, Srimeunwai
Tongsong, Theera
author_sort Traisrisilp, Kuntharee
collection PubMed
description Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to facilitate early detection. This study presents a case of CdCS with fetal ultrasound findings of cerebellar hypoplasia and peri-membranous ventricular septal defect (VSD), which are consistent with previous reports, as well as coarctation of the aorta and hypercoiling cord, which have never been described in CdCS before. Additionally, we performed an analytical literature review to identify the sonographic pattern facilitating prenatal diagnosis. Based on the review of 47 reported cases, most CdCS fetuses (87.2%) had ultrasound characteristics: cerebellar hypoplasia (29.8%), followed by cardiac abnormalities (19.1%), hydrops fetalis/fluid collection (17.0%), ventriculomegaly (14.9%), choroid plexus cyst (12.8%) and nasal bone hypoplasia (12.8%). Increased nuchal translucency/nuchal fold thickness was also common. This is the first study providing a fetal sonographic pattern of CdCS that may facilitate early diagnosis.
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spelling pubmed-88713652022-02-25 Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review Traisrisilp, Kuntharee Yanase, Yuri Ake-sittipaisarn, Srimeunwai Tongsong, Theera Diagnostics (Basel) Case Report Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to facilitate early detection. This study presents a case of CdCS with fetal ultrasound findings of cerebellar hypoplasia and peri-membranous ventricular septal defect (VSD), which are consistent with previous reports, as well as coarctation of the aorta and hypercoiling cord, which have never been described in CdCS before. Additionally, we performed an analytical literature review to identify the sonographic pattern facilitating prenatal diagnosis. Based on the review of 47 reported cases, most CdCS fetuses (87.2%) had ultrasound characteristics: cerebellar hypoplasia (29.8%), followed by cardiac abnormalities (19.1%), hydrops fetalis/fluid collection (17.0%), ventriculomegaly (14.9%), choroid plexus cyst (12.8%) and nasal bone hypoplasia (12.8%). Increased nuchal translucency/nuchal fold thickness was also common. This is the first study providing a fetal sonographic pattern of CdCS that may facilitate early diagnosis. MDPI 2022-02-06 /pmc/articles/PMC8871365/ /pubmed/35204510 http://dx.doi.org/10.3390/diagnostics12020421 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Traisrisilp, Kuntharee
Yanase, Yuri
Ake-sittipaisarn, Srimeunwai
Tongsong, Theera
Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
title Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
title_full Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
title_fullStr Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
title_full_unstemmed Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
title_short Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
title_sort prenatal sonographic features of cri-du-chat syndrome: a case report and analytical literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871365/
https://www.ncbi.nlm.nih.gov/pubmed/35204510
http://dx.doi.org/10.3390/diagnostics12020421
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