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  1. Article ; Online: Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination

    Carole Goumy / Zangbéwendé Guy Ouedraogo / Elodie Bellemonte / Eleonore Eymard-Pierre / Gwendoline Soler / Isabelle Perthus / Céline Pebrel-Richard / Laetitia Gouas / Gaëlle Salaun / Lauren Véronèse / Hélène Laurichesse / Claude Darcha / Andrei Tchirkov

    Diagnostics, Vol 13, Iss 23, p

    2023  Volume 3576

    Abstract: Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. ... ...

    Abstract Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. HMW DNA quality depends on tissue type, sample size, and storage conditions. We assessed the feasibility of OGM analysis of DNA from nine umbilical cord (UC) and six chorionic villus (CV) samples collected after the spontaneous or therapeutic termination of pregnancy. We analyzed quality control metrics provided by the Saphyr system (Bionano Genomics) and assessed the length of extracted DNA molecules using pulsed-field capillary electrophoresis. OMG data were successfully analyzed for all six CV samples. Five of the UC samples did not meet the Saphyr quality criteria, mainly due to poor DNA quality. In this regard, we found that DNA quality assessment with pulsed-field capillary electrophoresis can predict a successful OGM analysis. OGM data were fully concordant with the results of standard cytogenetic methods. Moreover, OGM detected an average of 14 additional structural variants involving OMIM genes per sample. On the basis of our results, we established the optimal conditions for sample storage and preparation required for a successful OGM analysis. We recommend checking DNA quality before analysis with pulsed-field capillary electrophoresis if the storage conditions were not ideal or if the quality of the sample is poor. OGM can therefore be performed on fetal tissue harvested after the termination of pregnancy, which opens up the perspective for improved diagnostic yield.
    Keywords optical genome mapping ; umbilical cord biopsies ; chorionic villi ; termination of pregnancy ; birth defect ; Medicine (General) ; R5-920
    Subject code 612
    Language English
    Publishing date 2023-11-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article: Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells

    Kemeny, Stephan / Bruno Pereira / Carole Goumy / Céline Pebrel-Richard / Christophe Tatout / Eugenie Maurin / Gaelle Salaun / Laetitia Gouas / Natasha Ollier / Philippe Vago

    Chromosoma. 2018 June, v. 127, no. 2

    2018  

    Abstract: In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about ... ...

    Abstract In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about how aneuploidies can impact CT organization. Here, we performed 3D-FISH on control and trisomic 21 nuclei to track the patterning of chromosome territories, focusing on the radial distribution of trisomic HSA21 as well as 11 disomic chromosomes. We have established an experimental design based on cultured chorionic villus cells which keep their original mesenchymal features including a characteristic ellipsoid nuclear morphology and a radial CT distribution that correlates with chromosome size. Our study suggests that in trisomy 21 nuclei, the extra HSA21 induces a shift of HSA1 and HSA3 CTs out toward a more peripheral position in nuclear space and a higher compaction of HSA1 and HSA17 CTs. We posit that the presence of a supernumerary chromosome 21 alters chromosome compaction and results in displacement of other chromosome territories from their usual nuclear position.
    Keywords B chromosomes ; chorion ; chromosome translocation ; experimental design ; interphase ; neoplasm cells ; trisomics
    Language English
    Dates of publication 2018-06
    Size p. 247-259.
    Publishing place Springer Berlin Heidelberg
    Document type Article
    ZDB-ID 203083-4
    ISSN 1432-0886 ; 0009-5915
    ISSN (online) 1432-0886
    ISSN 0009-5915
    DOI 10.1007/s00412-017-0653-6
    Database NAL-Catalogue (AGRICOLA)

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