WHOLE-EXOME-SEQUENCING (WES) - AN IMPORTANT TOOL TO ACCURATE DIAGNOSIS OF PRENATAL CONGENITAL ANOMALIES

被引：0
|
作者：
Castro, Lisandra [1 ]
Salgueiro, Natalia [1 ]
Conceicao, Ariana [1 ]
Moreira, Marta [1 ]
Garcia, Elsa [1 ]
Freitas, Michael [1 ]
Gavina, Adriana [1 ]
Alves, Claudia [2 ]
Correia, Cecilia [2 ]
Moldovan, Oana [3 ]
Lima, Margarida R. [1 ]
机构：
[1] SynlabHlth Genet Med, Unidade Genet Mol & Genom, Porto, Portugal
[2] SynlabHlth Genet Med, Unidade Citogenet, Porto, Portugal
[3] Ctr Hosp Lisboa Norte, Serv Genet, Lisbon, Portugal
来源：
MEDICINE | 2025年 / 104卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P84
引用
收藏
页数：1
相关论文
共 50 条
  • [31] Prenatal TRIO WES sequencing for fetal structural ultrasound anomalies
    Trost, Detlef
    Boughalem, Aicha
    Diakiese, Amandine
    Blanchet, Patricia
    Ciorna-Monferrato, Viorica
    Kleinfinger, Pascale
    Lohmann, Laurence
    Valduga, Mylene
    Luscan, Armel
    Costa, Jean Marc
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 115 - 115
  • [32] Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
    Lei, Ling
    Zhou, Lan
    Xiong, Jiao-jiao
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (09)
  • [33] Genomic profile in pulmonary neuroendocrine tumors (puNETs): the whole-exome sequencing (WES) as a strategic tool
    Sullivan, I. G.
    Deloger, M.
    Lacroix, L.
    Job, B.
    Dorvault, N.
    Adam, J.
    Honore, A.
    Gianoncelli, L.
    Le Teuff, G.
    de Montpreville, V.
    Besse, B.
    Soria, J-C.
    Scoazec, J-Y.
    Baudin, E.
    Planchard, D.
    ANNALS OF ONCOLOGY, 2016, 27
  • [34] Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study
    Shao, Ying-Fei
    Wang, Hong
    Wang, Yi-Xiu
    Shao, Le-Ping
    Wang, Sai
    WORLD JOURNAL OF PEDIATRICS, 2023, 19 (02) : 200 - 207
  • [35] Exome sequencing and the impact on prenatal diagnosis
    Castle, B.
    Kivuva, E.
    Turnpenny, P.
    Parker, M.
    Ellard, S.
    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2015, 122 : 46 - 46
  • [36] Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
    Cogan, Guillaume
    Bourgon, Nicolas
    Borghese, Roxana
    Julien, Emmanuel
    Jaquette, Aurelia
    Stos, Bertrand
    Achaiaa, Amale
    Chuon, Sophie
    Nitschke, Patrick
    Fourrage, Cecile
    Stirnemann, Julien
    Boutaud, Lucile
    Attie-Bitach, Tania
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (09):
  • [37] Prenatal diagnosis of congenital anomalies
    Huaman-Guerrero, Moises
    Quiroga de Michelene, Maria
    Arias, Jorge
    Huaman, Moises J.
    REVISTA PERUANA DE GINECOLOGIA Y OBSTETRICIA, 2007, 53 (03): : 181 - 186
  • [38] Implementing fast whole exome sequencing sequencing as diagnostic test for fetal multiple congenital anomalies on ultrasound
    Corsten-Janssen, N.
    el Mecky, J.
    Bouman, K.
    Vos, Y. J.
    Verheij, J. B. G. M.
    Westers, H.
    Kinds, R.
    Scheper, A. J.
    Sikkema-Raddatz, B.
    Sinke, R. J.
    van Langen, I. M.
    Sijmons, R. H.
    van Diemen, C. C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 540 - 540
  • [39] Whole Exome Sequencing Applications in Prenatal Genetics
    Jelin, Angie C.
    Vora, Neeta
    OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA, 2018, 45 (01) : 69 - +
  • [40] Clinical implementation of diagnostic whole exome sequencing for fetal multiple congenital anomalies on ultrasound
    Corsten-Janssen, N.
    Diphoorn, J. C. D.
    Bouman, K.
    El Mecky, J.
    Verheij, J. B. G. M.
    Kerstjens, W. S.
    Scheper, A.
    Kinds, R.
    van Langen, I. M.
    Sinke, R. J.
    Sijmons, R. H.
    Sikkema-Raddatz, B.
    Westers, H.
    van Diemen, C. C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1213 - 1213
12345