Prenatal exome sequencing analysis in the clinical setting of fetuses with structural anomalies or increased nuchal translucency

被引：0
|
作者：
Lazar, Roni Zemet [1 ]
Meng, Linyan [2 ]
Liu, Pengfei [2 ]
Dai, Hongzheng [2 ]
Xia, Fan [2 ]
Eng, Christine [2 ]
Van Den Veyver, Ignatia [1 ,3 ]
Vossaert, Liesbeth [2 ]
机构：
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Baylor Genet, Houston, TX USA
[3] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA
来源：
GENETICS IN MEDICINE | 2022年 / 24卷 / 03期
关键词：
D O I：
10.1016/j.gim.2022.01.507
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
eP474
引用
收藏
页码：S301 / S301
页数：1
相关论文
共 50 条
  • [21] Prenatal diagnostic exome sequencing analysis in 207 fetuses with congenital CNS anomalies
    Kalanithy, Jeshurun Chiaran
    Thiele, Holger
    Waffenschmidt, Lea
    Stegmann, Jil D.
    Schneider, Sophia
    Reutter, Heiko
    Merz, Waltraut
    Dworschak, Gabriel
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 502 - 502
  • [22] The diagnostic yield of prenatal exome sequencing in fetuses with ultrasound anomalies
    Diderich, Karin
    Thurik, Florentine
    Wilke, Martina
    Joosten, Marieke
    van den Born, Myrthe
    Galjaard, Robert-Jan
    Weerts, Marjolein
    van Slegtenhorst, Marjon
    Sleutels, Frank
    Galjaard, Sander
    Knapen, Maarten
    Go, Attie
    Hoefsloot, Lies
    Srebniak, Malgorzata
    Bruggenwirth, Hennie
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 364 - 364
  • [23] Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
    Mellis, R.
    Eberhardt, R. Y.
    Hamilton, S. J.
    McMullan, D. J.
    Kilby, M. D.
    Maher, E. R.
    Hurles, M. E.
    Giordano, J. L.
    Aggarwal, V
    Goldstein, D. B.
    Wapner, R. J.
    Chitty, L. S.
    [J]. BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2022, 129 (01) : 52 - 61
  • [24] Pregnancy outcome in fetuses with increased nuchal translucency
    Dane, B.
    Dane, C.
    Cetin, A.
    Kiray, M.
    Sivri, D.
    Yayla, M.
    [J]. JOURNAL OF PERINATOLOGY, 2008, 28 (06) : 400 - 404
  • [25] Increased nuchal translucency in fetuses with a normal karyotype
    Hyett, JA
    [J]. PRENATAL DIAGNOSIS, 2002, 22 (10) : 864 - 868
  • [26] Pregnancy outcome in fetuses with increased nuchal translucency
    B Dane
    C Dane
    A Cetin
    M Kiray
    D Sivri
    M Yayla
    [J]. Journal of Perinatology, 2008, 28 : 400 - 404
  • [27] Chromosomal microarray in fetuses with increased nuchal translucency
    Lund, I. C. B.
    Christensen, R.
    Petersen, O. B.
    Vogel, I.
    Vestergaard, E. M.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2015, 45 (01) : 95 - 100
  • [28] Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype
    Su, Linjuan
    Huang, Hailong
    An, Gang
    Cai, Meiying
    Wu, Xiaoqing
    Li, Ying
    Xie, Xiaorui
    Lin, Yuan
    Wang, Meiying
    Xu, Liangpu
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (08):
  • [29] The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency
    Maymon, R
    Herman, A
    [J]. CLINICAL GENETICS, 2004, 66 (05) : 426 - 436
  • [30] Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening
    Lan, Liubing
    Wu, Heming
    She, Lingna
    Zhang, Bosen
    He, Yanhong
    Luo, Dandan
    Wang, Huaxian
    Zheng, Zhiyuan
    [J]. JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2020, 34 (08)
12345