Diagnostic yield and implications of exome sequencing analysis, including the use of copy number variant analysis pipeline, for pregnancy management in a series of 46 fetuses with structural anomalies

被引：0

作者：

Moutton, Sebastien ^{[1
,2
]}

Harzallah, Ines ^{[3
]}

Raymond, Laure ^{[1
]}

Mortreux, Jeremie ^{[1
]}

Houcinat, Nada ^{[1
]}

Dancer, Marine ^{[1
]}

Geromel, Vanna ^{[1
]}

Saraeva-Lamri, Radoslava ^{[1
]}

Preto, Angeline ^{[1
]}

Druart, Luc ^{[1
]}

Nouchy, Marc ^{[1
]}

Prieur, Fabienne ^{[3
]}

Lebrun, Marine ^{[3
]}

Ramond, Francis ^{[3
]}

Dard, Rodolphe ^{[4
]}

Tessier, Aude ^{[4
]}

Dauriat, Benjamin ^{[5
]}

Marquet, Valentin ^{[5
]}

Wells, Constance ^{[6
]}

Deiller, Caroline ^{[6
]}

Schaefer, Elise ^{[7
]}

Frigere, Leila ^{[8
]}

Bouvagnet, Patrice ^{[1
,8
]}

Touraine, Renaud ^{[3
]}

Naud-Barreyre, Marie-Emmanuelle ^{[1
]}

机构：

[1] Lab Eurofins Biomnis, Dept Genet, Lyon, France

[2] Ctr Pluridisciplinaire Diagnost PreNatal, Maison Sante Protestante Bordeaux Bagatelle, Talence, France

[3] CHU St Etienne, Serv Genet Med, St Etienne, France

[4] CHI Poissy St Germain En Laye, Serv Genet Med, Poissy, France

[5] CHU Limoges, Serv Genet Med, Limoges, France

[6] CHU Montpellier, Serv Genet Med & Foetopathol, Montpellier, France

[7] CHRU Strasbourg, Serv Genet Med, Strasbourg, France

[8] CHU Martin, Ctr Pluridisciplinaire Diagnost PreNatal, Fort De France, Martinique, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P02.014.C

引用

页码：360 / 360

页数：1

共 9 条

[1] Increasing the diagnostic yield of exome sequencing by copy number variant analysis
Marchuk, Daniel S.
Crooks, Kristy
Strande, Natasha
Kaiser-Rogers, Kathleen
Milko, Laura, V
Brandt, Alicia
Arreola, Alexandra
Tilley, Christian R.
Bizon, Chris
Vora, Neeta L.
Wilhelmsen, Kirk C.
Evans, James P.
Berg, Jonathan S.
PLOS ONE, 2018, 13 (12):
[2] Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort
Hahn, Elan
Dharmadhikari, Avinash V.
Markowitz, Alexander L.
Estrine, Dolores
Quindipan, Catherine
Maggo, Simran D. S.
Sharma, Ankit
Lee, Brian
Maglinte, Dennis T.
Shams, Soheil
Deardorff, Matthew A.
Biegel, Jaclyn A.
Gai, Xiaowu
Sun, Miao
Schmidt, Ryan J.
Raca, Gordana
Ji, Jianling
NPJ GENOMIC MEDICINE, 2025, 10 (01)
[3] Copy Number Variant Analysis Improves the Diagnostic Yield in a Cohort of Pediatric Patients with Previously Negative Constitutional Exome Sequencing Results
Hahn, E.
Schmidt, R.
Bootwalla, M.
Maglinte, D.
Ryutov, A.
Quindipan, C.
Kaneko, M.
Gai, X.
Deardorff, M.
Raca, G.
Biegel, J.
Ji, J.
JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (11): : S1 - S1
[4] All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience
Faas, Brigitte H. W.
Westra, Dineke
de Munnik, Sonja A.
van Rij, Maartje
Marcelis, Carlo
Joosten, Sara
Krapels, Ingrid
Vernimmen, Vivian
Heijligers, Malou
Willemsen, Marjolein H.
de Leeuw, Nicole
Rinne, Tuula
Pfundt, Rolph
Smeekens, Sanne P.
Stegmann, Sander P. A.
Macville, Merryn
Sikkel, Esther
Coumans, Audrey
Wijnberger, Lia
Derks, Irma
van Lent-Albrechts, Josefa
Hofste, Tom
Timmermans, Raoul
van den End, Janneke
Stevens, Servi J. C.
Feenstra, Ilse
PRENATAL DIAGNOSIS, 2023, 43 (04) : 527 - 543
[5] Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application
Atik, Tahir
Durmusalioglu, Enise Avci
Isik, Esra
Kose, Melis
Kanmaz, Seda
Aykut, Ayca
Durmaz, Asude
Ozkinay, Ferda
Cogulu, Ozgur
BMC MEDICAL GENOMICS, 2024, 17 (01)
[6] The added diagnostic yield of copy number variant (CNV) analysis in gene panels from whole exome sequencing (WES) data: a two year experience
Weerts, Marjolein
Sleutels, Frank
Hollink, Iris
van der Helm, Robert
Hoefsloot, Lies
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 647 - 647
[7] Diagnostic yield of prenatal-exome sequencing in the genetic screening of fetuses with brain anomalies: a systematic review and meta-analysis
Moradi, B.
Ariaei, A.
Heidari-Foroozan, M.
Banihashemian, M.
Ghorani, H.
Rashidi-Nezhad, A.
Kazemi, M.
Taheri, M. Sanei
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2023, 62 : 129 - 129
[8] Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis
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Oprych, Kathryn
Scotchman, Elizabeth
Hill, Melissa
Chitty, Lyn S.
PRENATAL DIAGNOSIS, 2022, 42 (06) : 662 - 685
[9] Diagnostic yield of prenatal exome sequencing in the genetic screening of fetuses with brain anomalies detected by MRI and ultrasonography: A systematic review and meta-analysis
Moradi, Behnaz
Ariaei, Armin
Heidari-Foroozan, Mahsa
Banihashemian, Masoumeh
Ghorani, Hamed
Rashidi-Nezhad, Ali
Kazemi, Mohammad Ali
Taheri, Morteza Sanei
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2024, 131 (11) : 1435 - 1443

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