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Test non invasif et diagnostic de sexe fœtal : où en est-on ?

Non-invasive testing and determination of foetal sex: What stage are we at?

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Revue de médecine périnatale

Résumé

Le génotypage non invasif du sexe fœtal a révolutionné la prise en charge des femmes conductrices de maladies génétiques liées à l’X. Ce test est également employé dans d’autres situations comme la prise en charge des malformations des organes génitaux externes (OGE) ou des grossesses de patientes souffrant d’hyperplasie congénitale des surrénales, à risque de virilisation des OGE féminins. Il bénéficie d’une excellente performance diagnostique dès le premier trimestre de la grossesse.

Abstract

Non-invasive genotyping of the sex of a foetus has revolutionised the care given to female carriers of genetic disorders linked to the X chromosome. This test is also used in other circumstances, such as in the treatment of congenital external genital organ (EGO) deformities or in pregnancies with congenital adrenal hyperplasia, at risk of virilisation of the female EGOs. This test has excellent diagnostic success in the first trimester of pregnancy.

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Authors and Affiliations

  1. Gynécologie-obstétrique, hôpital Antoine-Béclère, AP–HP, F-92140, Clamart, France

    A. Vivanti & A. Benachi

  2. département de biologie spécialisée et de génétique, Laboratoire CERBA, F-95310, Saint-Ouen-l’Aumône, France

    J.-M. Costa

Authors
  1. A. Vivanti
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  2. A. Benachi
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  3. J.-M. Costa
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Correspondence to J.-M. Costa.

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Vivanti, A., Benachi, A. & Costa, JM. Test non invasif et diagnostic de sexe fœtal : où en est-on ?. Rev. med. perinat. 8, 26–30 (2016). https://doi.org/10.1007/s12611-016-0357-9

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  • DOI: https://doi.org/10.1007/s12611-016-0357-9

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