The implementation of Whole Exome Sequencing in the molecular diagnosis of fetal structural anomalies: the experience of a referral Italian hospital

被引：0
|
作者：
Zampieri, Stefania [1 ]
Feresin, Agnese [2 ]
Morgan, Anna [1 ]
Paccagnella, Elisa [1 ]
Rubinato, Elisa [1 ]
Mazza, Daniela [1 ]
Perino, Federica [2 ]
Samarin, Anna [2 ]
Stampalija, Tamara [2 ,3 ]
Pinamonti, Maurizio [4 ,5 ]
Turchetto, Giovanni [1 ]
Bussani, Rossana [2 ,4 ,5 ]
Spedicati, Beatrice [1 ,2 ]
Murru, Flora Maria [2 ,6 ]
Girotto, Giorgia [1 ,2 ]
机构：
[1] IRCCS Burlo Garofolo, SC Genet Med, Trieste, Italy
[2] Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy
[3] IRCCS Burlo Garofolo, Fetal Med & Prenatal Diag Unit, Trieste, Italy
[4] Azienda Sanitaria Univ Giuliano Isontina, Trieste, Italy
[5] Univ Trieste, Dept Pathol, Trieste, Italy
[6] IRCCS Burlo Garofolo, Paediat Radiol, Trieste, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：
P03.028.D
引用
收藏
页码：1314 / 1315
页数：2
相关论文
共 50 条
  • [31] Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing
    Evans, Carey-Anne
    Pinner, Jason
    Chan, Cheng Y.
    Bowyer, Lucy
    Mowat, David
    Buckley, Michael F.
    Roscioli, Tony
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (10) : 2152 - 2157
  • [32] 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
  • [33] The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
    Diderich, Karin E. M.
    Romijn, Kathleen
    Joosten, Marieke
    Govaerts, Lutgarde C. P.
    Polak, Marike
    Bruggenwirth, Hennie T.
    Wilke, Martina
    van Slegtenhorst, Marjon A.
    van Bever, Yolande
    Brooks, Alice S.
    Mancini, Grazia M. S.
    van de Laar, Ingrid M. B. H.
    Kromosoeto, Joan N. R.
    Knapen, Maarten F. C. M.
    Go, Attie T. J., I
    Van Opstal, Diane
    Hoefsloot, Lies H.
    Galjaard, Robert-Jan H.
    Srebniak, Malgorzata, I
    ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 2021, 100 (06) : 1106 - 1115
  • [34] Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis
    Mellis, Rhiannon
    Oprych, Kathryn
    Scotchman, Elizabeth
    Hill, Melissa
    Chitty, Lyn S.
    PRENATAL DIAGNOSIS, 2022, 42 (06) : 662 - 685
  • [35] Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
    Bian, Xinyi
    Yang, Xiao
    Shi, Xinwei
    Zeng, Wanjiang
    Deng, Dongrui
    Chen, Suhua
    Qiao, Fuyuan
    Feng, Ling
    Wu, Yuanyuan
    OPEN LIFE SCIENCES, 2023, 18 (01):
  • [36] Targeted prenatal exome sequencing in a series of fetal structural anomalies detected by ultrasonography: first experience of the University Hospitals of Geneva
    Quteineh, L.
    Pellegrinelli, J.
    Billieux, M.
    Guipponi, M.
    Laurent, S.
    Hammar, E.
    Murphy, A.
    Rodrigues, M. Carminho Amaro
    Ait-Mouhoub, T.
    Sloan-Bena, F.
    Unger, S.
    Giuliano, F.
    Rieubland, C.
    Fluss, J.
    Extermann, P.
    Blouin, J.
    Abramowicz, M.
    Fokstuen, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 171 - 171
  • [37] Prenatal exome sequencing for pregnancies with fetal anomalies - Three-year experience of diagnoses
    Allen, Stephanie
    Aye, Christina
    Castleman, James
    Kinning, Esther
    Cilliers, Deirdre
    Kilby, Mark
    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2024, 132 : 16 - 16
  • [38] Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory
    Lai, Theodora Hei Tung
    Au, Leung Kuen Sandy
    Lau, Yuen Ting Eunice
    Lo, Hei Man
    Chan, Kelvin Yuen Kwong
    Cheung, Ka Wang
    Ma, Teresa Wei Ling
    Leung, Wing Cheong
    Kong, Choi Wah
    Shu, Wendy
    So, Po Lam
    Kwong, Anna Ka Yee
    Mak, Christopher Chun Yu
    Lee, Mianne
    Chui, Martin Man Chun
    Chung, Brian Hon Yin
    Kan, Anita Sik Yau
    HEALTHCARE, 2022, 10 (12)
  • [39] Molecular diagnostic experience of whole-exome sequencing in adult patients
    Posey, Jennifer E.
    Rosenfeld, Jill A.
    James, Regis A.
    Bainbridge, Matthew
    Niu, Zhiyv
    Wang, Xia
    Dhar, Shweta
    Wiszniewski, Wojciech
    Akdemir, Zeynep H. C.
    Gambin, Tomasz
    Xia, Fan
    Person, Richard E.
    Walkiewicz, Magdalena
    Shaw, Chad A.
    Sutton, V. Reid
    Beaudet, Arthur L.
    Muzny, Donna
    Eng, Christine M.
    Yang, Yaping
    Gibbs, Richard A.
    Lupski, James R.
    Boerwinkle, Eric
    Plon, Sharon E.
    GENETICS IN MEDICINE, 2016, 18 (07) : 678 - 685
  • [40] Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta
    Evin, Ferda
    Atik, Tahir
    Onay, Huseyin
    Goksen, Damla
    Darcan, Sukran
    Cogulu, Ozgur
    Ozen, Samim
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2024, 37 (08): : 693 - 700
12345