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Master Thesis

Apport de l’analyse chromosomique sur puce à ADN pour une mesure de la clarté nucale supérieure ou égale à 3,5 mm

Abstract : Objectives: The aim of this study was to determine the prevalence of chromosomal abnormalities diagnosed by array comparative genomic hybridization (Array-CGH) in the context of nuchal translucency ≥ 3.5 mm with a normal karyotype. The development of the pregnancy, the presence of ultrasound markers and/or malformations as well as the pregnancy outcome were also described. Methods: This is a quantitative, descriptive, retrospective and monocentric study. All the cases of increased nuchal translucency ≥ 3,5 mm during the first trimester with a normal karyotype presented at the multidisciplinary prenatal diagnostic center (CPDPN) of the Grenoble University Hospital from January 1, 2013 to December 31, 2018 were included. Results: 195 files were included. Median nuchal translucency is 4.2 mm (IIQ [3.7 ; 5.5]. A CNV has been identified in 9.2 % (18/195) of the cases. The prevalence of abnormalities diagnosed by Array-CGH is 6.2 % (12/195 95 % CI [2.8 % ; 9.6 %]), the proportion of variant of unknown significance is 3 % (6/195). Ultrasound markers and/or malformations were noted in 55.4 % (108/195). The pregnancy outcome is good in 66.2 % (94/195) of the cases. Conclusion: The prevalence of abnormalities diagnosed by Array-CGH at the Grenoble Alpes University Hospital Center in a context of nuchal translucency ≥ 3.5 mm with normal karyotype is similar to the data reported in the literature.
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https://dumas.ccsd.cnrs.fr/dumas-02985829
Contributor : Jean-Hugues Morneau <>
Submitted on : Monday, November 2, 2020 - 3:01:30 PM
Last modification on : Thursday, November 5, 2020 - 4:04:27 PM

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  • HAL Id : dumas-02985829, version 1

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Ludivine Briançon. Apport de l’analyse chromosomique sur puce à ADN pour une mesure de la clarté nucale supérieure ou égale à 3,5 mm. Gynécologie et obstétrique. 2020. ⟨dumas-02985829⟩

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