Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?

Authors

  • J. Huang,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR
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  • L. C. Poon,

    1. Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK
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  • R. Akolekar,

    1. Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK
    2. Fetal Medicine Unit, Medway Maritime Hospital, Kent, UK
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  • K. W. Choy,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR
    2. Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China
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  • T. Y. Leung,

    1. Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR
    2. Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China
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  • K. H. Nicolaides

    Corresponding author
    1. Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK
    • Correspondence to: Prof. K. H. Nicolaides, Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London SE5 9RS, UK (e-mail: kypros@fetalmedicine.com)

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ABSTRACT

Objective

To examine the possible association between high fetal nuchal translucency thickness (NT) and pathogenic chromosomal copy number variants (CNVs) detected by array comparative genomic hybridization (CGH) in pregnancies with normal fetal karyotype.

Methods

Array CGH was carried out in stored samples of chorionic villi from 215 singleton pregnancies resulting in live births in which chorionic villus sampling at 11–13 weeks' gestation for high fetal NT (≥ 3.5 mm) had demonstrated normal karyotype.

Results

Median fetal NT was 4.0 (range, 3.5–9.5) mm. Array CGH detected additional CNVs in 1.4% (95% CI, 0.5–4.0) of the cases, but none of these was a known pathogenic CNV.

Conclusion

High fetal NT in the absence of sonographically detectable defects may not be associated with pathogenic CNVs. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

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