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Recurrent structural malformations identified among Mowat–Wilson syndrome fetuses

Authors

  • Yan Zhou,

    1. Department of Obstetrics and Gynaecology, Wuhan Medical Care Center for Women and Children, Wuhan, China
    2. Fetal Medicine Unit, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
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  • Jin Huang,

    1. Fetal Medicine Unit, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
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  • Yvonne Kwun Yue Cheng,

    1. Fetal Medicine Unit, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
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  • Tak Yeung Leung,

    1. Fetal Medicine Unit, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
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  • Ritsuko K. Pooh,

    1. CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, Japan
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  • Fai Man Lo,

    1. Clinical Genetics Service, Department of Health, Hong Kong, China
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  • Kwong Wai Choy

    Corresponding author
    1. Fetal Medicine Unit, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    2. Joint Centre with Utrecht University-Genetic Core, The Chinese University of Hong Kong, Hong Kong, China
    3. Shenzhen Research Institute, The Chinese University of Hong Kong, Hong Kong, Hong Kong
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  • Funding sources: This work is partly supported by the National Basic Research Program of China (2012CB944600) and the Hong Kong Health and Medical Research Fund (08090401).

  • Conflicts of interest: None declared

Abstract

What's already known about this topic?

  • Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally.

What does this study add?

  • We report and review the ultrasound features of MWS fetuses identified by array comparative genomic hybridization study.
  • The MWS should be considered in fetuses with increased nuchal translucency, ACC, hypospadias, and congenital heart defect.
  • The prevalence of MWS in Hong Kong is reported.
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