Rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations by free fetal cell DNA analysis; Gaucher disease as a proof of principle

被引:0
|
作者
Altarescu, Gheona [1 ]
机构
[1] Shaare Zedek Med Ctr, Jerusalem, Israel
关键词
D O I
10.1016/j.ymgme.2015.12.172
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
14
引用
收藏
页码:S18 / S18
页数:1
相关论文
共 50 条
  • [21] Prenatal Diagnosis of β-thalassemia with Cell-free Fetal DNA in Maternal Plasma
    Zhao, Lijian
    Liang, Xuxia
    Huang, Haini
    Lan, Huihua
    Wu, Xin
    Wang, Chenhong
    JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2019, 29 (05): : 483 - 485
  • [22] Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis
    Soltani, M.
    Nemati, M.
    Maralani, M.
    Estiar, M. A.
    Andalib, S.
    Fardiazar, Z.
    Sakhinia, E.
    CELLULAR AND MOLECULAR BIOLOGY, 2016, 62 (04) : 14 - 17
  • [23] Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom
    Hill, Melissa
    Lewis, Celine
    Jenkins, Lucy
    Allen, Stephanie
    Elles, Rob G.
    Chitty, Lyn S.
    EXPERT OPINION ON BIOLOGICAL THERAPY, 2012, 12 : S119 - S126
  • [24] Cell free fetal DNA in maternal blood: new possibilities in prenatal diagnosis
    Stumm, Markus
    Wegner, Rolf-Dieter
    Hofmann, Wera
    LABORATORIUMSMEDIZIN-JOURNAL OF LABORATORY MEDICINE, 2012, 36 (05): : 253 - 261
  • [25] Cell-free fetal DNA and non-invasive prenatal diagnosis
    Rafi, Imran
    Chitty, Lyn
    BRITISH JOURNAL OF GENERAL PRACTICE, 2009, 59 (562): : 320 - 321
  • [26] Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis
    Soltani, M.
    Sakhinia, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 821 - 822
  • [27] Kinetics of fetal cellular and cell-free DNA in the maternal circulation during and after pregnancy: implications for noninvasive prenatal diagnosis
    Ariga, H
    Ohto, H
    Busch, MP
    Imamura, S
    Watson, R
    Reed, W
    Lee, TH
    TRANSFUSION, 2001, 41 (12) : 1524 - 1530
  • [28] Noninvasive prenatal RHD genotyping using cell free fetal DNA from maternal plasma
    Hudecova, I.
    Polakova, H.
    Rusnak, I.
    Sisovsky, V.
    Vlkova, B.
    Minarik, G.
    Szemes, T.
    Kadasi, L.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2011, 41 : 18 - 18
  • [29] Cell-free fetal DNA-based noninvasive prenatal testing of aneuploidy reply
    Mackie, Fiona L.
    Allen, Stephanie
    Morris, R. Katie
    Kilby, Mark D.
    OBSTETRICIAN & GYNAECOLOGIST, 2018, 20 (01): : 69 - 70
  • [30] Noninvasive prenatal diagnosis experience in the Cukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and β-thalassemia in cell-free fetal DNA using high-resolution melting analysis
    Yenilmez, Ebru Dundar
    Tuli, Abdullah
    Evruke, I. Cuneyt
    PRENATAL DIAGNOSIS, 2013, 33 (11) : 1054 - 1062