Non-invasive prenatal diagnosis of single gene disorders an aid to the confirmation of fetal ultrasound findings

被引:0
|
作者
Meaney, Cathy [1 ]
Barrett, A. N. [1 ]
Chitty, L. S. [2 ]
机构
[1] N E Thames Reg Mol Genet Lab, London, England
[2] Univ Coll London Hosp, UCL Inst Child Hlth, Fetal Med Unit, London, England
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S78 / S78
页数:1
相关论文
共 50 条
  • [21] Non-invasive Prenatal Diagnosis of Single Gene Disorders by Paternal Mutation Exclusion: 3 Years of Clinical Experience
    Pacault, Mathilde
    Verebi, Camille
    Lopez, Maureen
    Vaucouleur, Nicolas
    Orhant, Lucie
    Deburgrave, Nathalie
    Leturcq, France
    Vidaud, Dominique
    Girodon, Emmanuelle
    Bienvenu, Thierry
    Nectoux, Juliette
    OBSTETRICAL & GYNECOLOGICAL SURVEY, 2023, 78 (04) : 204 - 206
  • [22] Non- invasive prenatal diagnosis for single gene disorders: experience of patients
    Lewis, C.
    Hill, M.
    Chitty, L. S.
    CLINICAL GENETICS, 2014, 85 (04) : 336 - 342
  • [23] Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation
    Pacault, Mathilde
    Verebi, Camille
    Champion, Magali
    Orhant, Lucie
    Perrier, Alexandre
    Girodon, Emmanuelle
    Leturcq, France
    Vidaud, Dominique
    Ferec, Claude
    Bienvenu, Thierry
    Daveau, Romain
    Nectoux, Juliette
    PLOS ONE, 2023, 18 (04):
  • [24] Non-invasive prenatal diagnosis for early detection of fetal sex in X-linked disorders
    Linari, Silvia
    Giachini, Claudia
    Gerundino, Francesca
    Pescucci, Chiara
    Frusconi, Sabrina
    Sbernini, Fiammetta
    Periti, Enrico
    Pelo, Elisabetta
    Morfini, Massimo
    Torricelli, Francesca
    HAEMOPHILIA, 2014, 20 : 8 - 8
  • [25] Prenatal Diagnosis Prenatal non-invasive Determination of fetal RhD Status Comment
    Legler, Tobias J.
    TRANSFUSIONSMEDIZIN, 2015, 5 (02) : 56 - 56
  • [26] Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study
    Wang, Lei
    Wu, Xiaoli
    Mou, Jing
    Ren, Lingyan
    Wu, Bei
    Xiang, Guangxin
    Wang, Jue
    Xie, Dan
    Guo, Min
    Geng, Yaya
    An, Bangquan
    Huang, Shengwen
    ARCHIVES OF GYNECOLOGY AND OBSTETRICS, 2024, : 2943 - 2955
  • [27] Non-invasive prenatal diagnosis
    Rodriguez de Alba, M.
    Bustamante-Aragones, A.
    Ramos, C.
    CHROMOSOME RESEARCH, 2007, 15 : 14 - 15
  • [28] Non-invasive prenatal diagnosis
    Soothill, Peter
    EARLY HUMAN DEVELOPMENT, 2006, 82 (09) : 619 - 619
  • [29] Non-invasive prenatal diagnosis of fetal RhD by using free fetal DNA
    Gonenc, G.
    Isci, H.
    Yigiter, A. B.
    Hancer, V.
    Buyukdogan, M.
    Guducu, N.
    Dunder, I.
    CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2015, 42 (03): : 344 - 346
  • [30] Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing
    Hayward, Jane
    Chitty, Lyn S.
    SEMINARS IN FETAL & NEONATAL MEDICINE, 2018, 23 (02): : 94 - 101