Abnormalities of the heart and great arteries in chromosomally normal fetuses with increased nuchal translucency thickness at 1l–13 weeks of gestation

Authors

  • J. Hyett,

    1. Harris Birthright Centre for Fetal Medicine and Department of Early Human Development, King's College Hospital Medical School, London, UK
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  • G. Moscoso,

    1. Harris Birthright Centre for Fetal Medicine and Department of Early Human Development, King's College Hospital Medical School, London, UK
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  • G. Papapanagiotou,

    1. Harris Birthright Centre for Fetal Medicine and Department of Early Human Development, King's College Hospital Medical School, London, UK
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  • M. Perdu,

    1. Harris Birthright Centre for Fetal Medicine and Department of Early Human Development, King's College Hospital Medical School, London, UK
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  • Professor K. H. Nicolaides

    Corresponding author
    1. Harris Birthright Centre for Fetal Medicine and Department of Early Human Development, King's College Hospital Medical School, London, UK
    • Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, Denmark Hill, London SE5 8RX, UK
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Abstract

Pathological examination of trisomic fetuses with increased nuchal translucency thickness at 1l–13 weeks of gestation demonstrated a high prevalence of cardiac defects and abnormalities of the great arteries. This study reports the pathological findings observed from the examination of the heart and great arteries of 21 chromosomally normal fetuses with increased nuchal translucency. In 19 of the 21 cases there were abnormalities the commonest was narrowing of the aorta at the level of the isthmus and immediately above the aortic valve. This finding is different from that in case of trisomy 21, where narrowing of the isthmus is associated with an increased diameter of the aortic valve. These findings suggest that abnormarlities of the heart and great arteries may be implicated in the pathogenesis of increased nuchal translucency not only in trisomic fetuses but also in chromosomally normal fetuses. It can be implied that increased nuchal translucency thickness at 10–14 weeks of gestation may prove to be a useful marker for the identification of fetal cardiac abnormalities. Copyright © 1996 International Society of Ultrasound in Obstetrics and Gynecology

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