The diagnostic yield of prenatal exome sequencing in fetuses with ultrasound anomalies

被引：0
|
作者：
Diderich, Karin [1 ]
Thurik, Florentine [1 ]
Wilke, Martina [1 ]
Joosten, Marieke [1 ]
van den Born, Myrthe [1 ]
Galjaard, Robert-Jan [1 ]
Weerts, Marjolein [1 ]
van Slegtenhorst, Marjon [1 ]
Sleutels, Frank [1 ]
Galjaard, Sander [2 ]
Knapen, Maarten [2 ]
Go, Attie [2 ]
Hoefsloot, Lies [1 ]
Srebniak, Malgorzata [1 ]
Bruggenwirth, Hennie [1 ]
机构：
[1] Erasmus MC, Clin Genet, Rotterdam, Netherlands
[2] Erasmus MC, Obstet & Gynecol, Rotterdam, Netherlands
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：
P02.026.C
引用
收藏
页码：364 / 364
页数：1
相关论文
共 50 条
  • [21] 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
  • [22] Beyond diagnostic yield: use of exome sequencing in prenatal diagnosis
    Pan, M.
    Li, D. -Z.
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2022, 59 (05) : 697 - 698
  • [23] Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
    Slavotinek, Anne
    Rego, Shannon
    Sahin-Hodoglugil, Nuriye
    Kvale, Mark
    Lianoglou, Billie
    Yip, Tiffany
    Hoban, Hannah
    Outram, Simon
    Anguiano, Beatrice
    Chen, Flavia
    Michelson, Jeremy
    Cilio, Roberta M.
    Curry, Cynthia
    Gallagher, Renata C.
    Gardner, Marisa
    Kuperman, Rachel
    Mendelsohn, Bryce
    Sherr, Elliott
    Shieh, Joseph
    Strober, Jonathan
    Tam, Allison
    Tenney, Jessica
    Weiss, William
    Whittle, Amy
    Chin, Garrett
    Faubel, Amanda
    Prasad, Hannah
    Mavura, Yusuph
    Van Ziffle, Jessica
    Devine, W. Patrick
    Hodoglugil, Ugur
    Martin, Pierre-Marie
    Sparks, Teresa N.
    Koenig, Barbara
    Ackerman, Sara
    Risch, Neil
    Kwok, Pui-Yan
    Norton, Mary E.
    NPJ GENOMIC MEDICINE, 2023, 8 (01)
  • [24] Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
    Wei Huang
    Xiaofan Zhu
    Gege Sun
    Zhi Gao
    Xiangdong Kong
    BMC Medical Genomics, 16
  • [25] Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
    Huang, Wei
    Zhu, Xiaofan
    Sun, Gege
    Gao, Zhi
    Kong, Xiangdong
    BMC MEDICAL GENOMICS, 2023, 16 (01)
  • [26] Prenatal exome sequencing in corpus callosum anomalies: lessons from a cohort of 209 fetuses
    Gerasimenko, Anna
    Heide, Solveig
    Frugere, Lisa
    Valence, Stephanie
    Jouannic, Jean-Marie
    Attie-Bitach, Tania
    Garel, Catherine
    Nizon, Mathilde
    Putoux, Audrey
    Prudhomme, Cecile
    Ducourneau, Jade
    Courtin, Thomas
    Lehalle, Daphne
    de Sainte Agathe, Jean-Madeleine
    Vincent, des Portes
    Patat, Olivier
    Milh, Mathieu
    Moutton, Sebastien
    Spentchian, Myrtille
    Mignot, Cyril
    Keren, Boris
    Heron, Delphine
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 42 - 42
  • [27] 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
  • [28] Beyond diagnostic yield: use of exome sequencing in prenatal diagnosis Reply
    Kucinska-Chahwan, A.
    Roszkowski, T.
    Nowakowska, B.
    Geremek, M.
    Paczkowska, M.
    Bijok, J.
    Massalska, D.
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2022, 59 (05) : 698 - 699
  • [29] The diagnostic yield provided by prenatal-exome sequencing in fetal abnormality
    Stocker, L. J.
    de Burca, A.
    Brown, G.
    Parasuraman, R.
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2023, 62 : 27 - 27
  • [30] The diagnostic yield of exome sequencing in the prenatal setting: A clinical laboratory experience
    Telegrafi, A.
    Yates, C.
    Monaghan, K. G.
    Ryan, E.
    Friedman, B.
    Sroka, H.
    Willaert, R.
    Chikarmane, R.
    Juusola, J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 32 - 32
12345