Exome and genome sequencing as time effective methods for prenatal diagnosis: overview of 679 patients

被引：0
|
作者：
Pereira, Catarina [1 ]
Almeida, Ligia [1 ]
Reyes, Alejandra [1 ]
Paknia, Omid [1 ]
Bertoli-Avella, Aida [1 ]
Basto, Jorge Pinto [1 ]
Bauer, Peter [1 ]
机构：
[1] CENTOGENE GmbH, Rostock, Germany
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：
P03.043.C
引用
收藏
页码：1320 / 1320
页数：1
相关论文
共 50 条
  • [31] Whole exome sequencing (WES) in prenatal diagnosis for carefully selected cases
    Yadava, Stacy M.
    Ashkinadze, Elena
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2017, 216 (01) : S87 - S88
  • [32] Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma
    Wong, Felix C. K.
    Lo, Y. M. Dennis
    ANNUAL REVIEW OF MEDICINE, VOL 67, 2016, 67 : 419 - 432
  • [33] Genome sequencing in the prenatal diagnosis of structural malformations in the fetus
    Chau, Matthew Hoi Kin
    Choolani, Mahesh
    Dong, Zirui
    Cao, Ye
    Choy, Kwong Wai
    BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY, 2024, 97
  • [34] 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):
  • [35] Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience
    Kucinska-Chahwan, Anna
    Geremek, Maciej
    Roszkowski, Tomasz
    Bijok, Julia
    Massalska, Diana
    Ciebiera, Michal
    Correia, Hildeberto
    Pereira-Caetano, Iris
    Barreta, Ana
    Obersztyn, Ewa
    Kutkowska-Kazmierczak, Anna
    Wlasienko, Pawel
    Krajewska-Walasek, Malgorzata
    Wegrzyn, Piotr
    Dudarewicz, Lech
    Krzeszowski, Waldemar
    Rybak-Krzyszkowska, Magda
    Nowakowska, Beata
    GENES, 2022, 13 (05)
  • [36] 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):
  • [37] Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies
    Chen, Min
    Chen, Jingsi
    Wang, Chunli
    Chen, Fei
    Xie, Yinong
    Li, Yufan
    Li, Nan
    Wang, Jing
    Zhang, Victor Wei
    Chen, Dunjin
    EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2020, 251 : 119 - 124
  • [38] Unveiling the potential: evaluating prenatal genetic diagnosis through exome trio sequencing
    Asensio-Landa, Victor
    Sanchez, Sara
    Martorell, Rosa
    Suner, Damian Heine
    Torres-Juan, Laura
    Santos-Simarro, Fernando
    Paso, Maria Garcia-De
    Avella-Klaassen, Susana Renee
    Prado-Farnos, Maria Carmen
    Vila, Maria
    Alegre, Andrea
    de Gopegui, Rosa Ruiz
    Tubau, Albert
    Martinez, Iciar
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1599 - 1600
  • [39] Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities
    Qin, Lili
    Liu, Datong
    Wang, Xuanyi
    Xia, Yu
    Sun, Meiling
    Chen, Huizi
    BRITISH JOURNAL OF HOSPITAL MEDICINE, 2024, 85 (12)
  • [40] Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
    Shi, Xiaomei
    Tang, Hui
    Lu, Jian
    Yang, Xiue
    Ding, Hongke
    Wu, Jing
    ANNALS OF MEDICINE, 2021, 53 (01) : 1285 - 1291
12345