Prenatal sonographic diagnosis of isolated fetal ascites in cri‐du‐chat (5p‐) syndrome: A case report

Isolated fetal ascites and cri‐du‐chat syndrome (CdCS; OMIM #123450) are two very rare conditions that, to our best knowledge, have never been reported together. Here, we describe a case of isolated fetal ascites detected in the first trimester ultrasound, with no other remarkable signs. After an ex...

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Bibliographic Details
Published inJournal of clinical ultrasound Vol. 47; no. 4; pp. 232 - 234
Main Authors Cardoso, Mariana C., Raposo, Maria Inês, Ormonde, Mariana, Monteiro, Rita, Sampaio, André, Cosme, Pedro, Mota‐Vieira, Luisa
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.05.2019
Wiley Subscription Services, Inc
Subjects
5p‐syndrome
Amniocentesis
Ascites
Case reports
cri‐du‐chat syndrome
fetal ascites
Fetuses
obstetrics
Ultrasonic imaging
ultrasonography
Ultrasound
fetal ascites
obstetrics
5p-syndrome
ultrasonography
cri-du-chat syndrome
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Summary:Isolated fetal ascites and cri‐du‐chat syndrome (CdCS; OMIM #123450) are two very rare conditions that, to our best knowledge, have never been reported together. Here, we describe a case of isolated fetal ascites detected in the first trimester ultrasound, with no other remarkable signs. After an extensive work‐up (fetal ultrasound, serologies, Coombs test, and NIPT), an amniocentesis was performed and revealed an abnormal karyotype of 46,XX,del(5)(p15.2), characteristic of CdCS. We hypothesize that isolated fetal ascites has to be considered an antenatal ultrasonographic marker for CdCS, a finding that should be confirmed in further cases.
Bibliography:Funding information
Fundação para a Ciência e Tecnologia (FCT), Grant/Award Number: UID/MULTI/04046/2013
ISSN:0091-2751
1097-0096
DOI:10.1002/jcu.22679