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
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
  • [21] Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses
    Fang Fu
    Ru Li
    Qiuxia Yu
    Dan Wang
    Qiong Deng
    Lushan Li
    Tingying Lei
    Guilan Chen
    Zhiqiang Nie
    Xin Yang
    Jin Han
    Min Pan
    Li Zhen
    Yongling Zhang
    Xiangyi Jing
    Fucheng Li
    Fatao Li
    Lina Zhang
    Cuixing Yi
    Yingsi Li
    Yan Lu
    Hang Zhou
    Ken Cheng
    Jian Li
    Lina Xiang
    Jing Zhang
    Sha Tang
    Ping Fang
    Dongzhi Li
    Can Liao
    Genome Medicine, 14
  • [22] Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses
    Fu, Fang
    Li, Ru
    Yu, Qiuxia
    Wang, Dan
    Deng, Qiong
    Li, Lushan
    Lei, Tingying
    Chen, Guilan
    Nie, Zhiqiang
    Yang, Xin
    Han, Jin
    Pan, Min
    Zhen, Li
    Zhang, Yongling
    Jing, Xiangyi
    Li, Fucheng
    Li, Fatao
    Zhang, Lina
    Yi, Cuixing
    Li, Yingsi
    Lu, Yan
    Zhou, Hang
    Cheng, Ken
    Li, Jian
    Xiang, Lina
    Zhang, Jing
    Tang, Sha
    Fang, Ping
    Li, Dongzhi
    Liao, Can
    GENOME MEDICINE, 2022, 14 (01)
  • [23] Whole exome sequencing improves genetic diagnosis of fetal clubfoot
    Ruibin Huang
    Hang Zhou
    Chunling Ma
    Fang Fu
    Ken Cheng
    You Wang
    Ru Li
    Tingying Lei
    Qiuxia Yu
    Dan Wang
    Shujuan Yan
    Xin Yang
    Dongzhi Li
    Can Liao
    Human Genetics, 2023, 142 : 407 - 418
  • [24] Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
    Tang, Hui
    Zhang, Qin
    Xiang, Jingjing
    Yin, Linliang
    Wang, Jing
    Wang, Ting
    FRONTIERS IN GENETICS, 2021, 12
  • [25] Whole exome sequencing improves genetic diagnosis of fetal clubfoot
    Huang, Ruibin
    Zhou, Hang
    Ma, Chunling
    Fu, Fang
    Cheng, Ken
    Wang, You
    Li, Ru
    Lei, Tingying
    Yu, Qiuxia
    Wang, Dan
    Yan, Shujuan
    Yang, Xin
    Li, Dongzhi
    Liao, Can
    HUMAN GENETICS, 2023, 142 (03) : 407 - 418
  • [26] An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
    Vora, Neeta L.
    Gilmore, Kelly
    Brandt, Alicia
    Gustafson, Chelsea
    Strande, Natasha
    Ramkissoon, Lori
    Hardisty, Emily
    Foreman, Ann Katherine M.
    Wilhelmsen, Kirk
    Owen, Phillips
    Weck, Karen E.
    Berg, Jonathan S.
    Powell, Cynthia M.
    Powell, Bradford C.
    GENETICS IN MEDICINE, 2020, 22 (05) : 954 - 961
  • [27] An Approach to Integrating Exome Sequencing for Fetal Structural Anomalies Into Clinical Practice
    Vora, Neeta L.
    Gilmore, Kelly
    Brandt, Alicia
    Gustafson, Chelsea
    Strande, Natasha
    Ramkissoon, Lori
    Hardisty, Emily
    Foreman, Ann Katherine M.
    Wilhelmsen, Kirk
    Owen, Phillips
    Weck, Karen E.
    Berg, Jonathan S.
    Powell, Cynthia M.
    Powell, Bradford C.
    OBSTETRICAL & GYNECOLOGICAL SURVEY, 2020, 75 (10) : 585 - 587
  • [28] Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies
    Allen, Stephanie K.
    Chandler, Natalie J.
    Kinning, Esther
    Harrison, Victoria
    Brothwell, Shona L. C.
    Vijay, Suresh
    Castleman, James
    Cilliers, Deirdre
    PRENATAL DIAGNOSIS, 2024, 44 (04) : 432 - 442
  • [29] Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
    Chen, Xinlin
    Jiang, Yulin
    Chen, Ruiguo
    Qi, Qingwei
    Zhang, Xiujuan
    Zhao, Sheng
    Liu, Chaoshi
    Wang, Weiyun
    Li, Yuezhen
    Sun, Guoqiang
    Song, Jieping
    Huang, Hui
    Cheng, Chen
    Zhang, Jianguang
    Cheng, Longxian
    Liu, Juntao
    JOURNAL OF TRANSLATIONAL MEDICINE, 2022, 20 (01)
  • [30] Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
    Xinlin Chen
    Yulin Jiang
    Ruiguo Chen
    Qingwei Qi
    Xiujuan Zhang
    Sheng Zhao
    Chaoshi Liu
    Weiyun Wang
    Yuezhen Li
    Guoqiang Sun
    Jieping Song
    Hui Huang
    Chen Cheng
    Jianguang Zhang
    Longxian Cheng
    Juntao Liu
    Journal of Translational Medicine, 20