A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

被引：0
|
作者：
Hui-Hui Xu
Mei-Zhen Dai
Kai Wang
Yang Zhang
Fei-Yan Pan
Wei-Wu Shi
机构：
[1] Wenzhou Medical University,Prenatal Diagnosis Center, Taizhou Hospital
[2] Wenzhou Medical University,Medical Research Center, Taizhou Hospital
[3] Wenzhou Medical University,Department of Gynecology and Obstetrics, Taizhou Hospital
来源：
BMC Medical Genomics | / 13卷
关键词：
Non-invasive prenatal testing (NIPT); False negative; Down syndrome; 21q;21q rearrangements;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 9 条
  • [1] A rare Down syndrome foetus withde novo21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report
    Xu, Hui-Hui
    Dai, Mei-Zhen
    Wang, Kai
    Zhang, Yang
    Pan, Fei-Yan
    Shi, Wei-Wu
    BMC MEDICAL GENOMICS, 2020, 13 (01)
  • [2] PRENATAL DIAGNOSIS OF ISOCHROMOSOME 21p AND ISOCHROMOSOME 21q IN A FETUS WITH DOWN SYNDROME
    Yakut, S.
    Sanhal, C.
    Manguoglu, E.
    Cetin, Z.
    GENETIC COUNSELING, 2014, 25 (03): : 257 - 264
  • [3] A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
    Qingwei Qi
    Xiya Zhou
    Yulin Jiang
    Na Hao
    Jing Zhou
    Liang Zhang
    Molecular Cytogenetics, 6
  • [4] A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
    Qi, Qingwei
    Zhou, Xiya
    Jiang, Yulin
    Hao, Na
    Zhou, Jing
    Zhang, Liang
    MOLECULAR CYTOGENETICS, 2013, 6
  • [5] MOLECULAR ANALYSIS TO ASSIGN PARENTAL ORIGIN AND DISTINGUISH DE-NOVO I(21Q) FROM T(21Q21Q) IN 2 DOWN-SYNDROME FETUSES
    ZHAO, J
    THARAPEL, AT
    SHULMAN, LP
    SIMPSON, JL
    ELIAS, S
    JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION, 1994, 1 (02) : 128 - 130
  • [6] Detection of paternal origin of fetal de novo rea(21q;21q) down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result
    Chen, Chih-Ping
    Jou, Quan-Bin
    Chern, Schu-Rern
    Chen, Shin-Wen
    Wu, Fang-Tzu
    Chen, Wen-Lin
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2022, 61 (02): : 356 - 358
  • [7] DEPIST 21: Information and knowledge of pregnant women about screening strategies including non-invasive prenatal testing for Down syndrome
    Wehbe, Karl
    Brun, Pauline
    Gornet, Marion
    Bory, Jean-Paul
    Raimond, Emilie
    Graesslin, Olivier
    Barbe, Coralie
    Duminil, Laura
    JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION, 2021, 50 (07)
  • [8] A de novo duplication of chromosome 21q22.11 → qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
    Chen, Chih-Ping
    Huang, Hsu-Kuang
    Ling, Pei-Ying
    Su, Yi-Ning
    Chen, Ming
    Tsai, Fuu-Jen
    Wu, Pei-Chen
    Chern, Schu-Rern
    Chen, Yu-Ting
    Lee, Chen-Chi
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2011, 50 (04): : 492 - 498
  • [9] A discordant case in which T21 positive and 47,XXY negative non-invasive prenatal testing result was associated with a 47,XXY mosaic fetus
    Zhou, Y.
    Xia, Z.
    Ge, Y.
    Yuan, Y.
    Jiang, F.
    Guo, Q.
    CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2018, 45 (06) : 963 - 964
1