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 35 条
  • [21] Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report
    Eckmann-Scholz, Christel
    Gesk, Stefan
    Nagel, Inga
    Haake, Andrea
    Bens, Susanne
    Heidemann, Simone
    Kautza, Monika
    Timke, Christian
    Siebert, Reiner
    Caliebe, Almuth
    MOLECULAR CYTOGENETICS, 2010, 3
  • [22] NON-SYNDROMIC THROMBOCYTOPENIA WITH PROPENSITY TO MYELOID MALIGNANCIES DUE TO A DE-NOVO MICRODELETION ON CHROMOSOME 21q INVOLVING RUNX1 - WHAT TO DO NEXT?
    Ripperger, T.
    Steinemann, D.
    Tauscher, M.
    Goehring, G.
    Haase, D.
    Griesinger, F.
    Schlegelberger, B.
    ANNALS OF HEMATOLOGY, 2011, 90 : S5 - S6
  • [23] False positive non-invasive prenatal testing (NIPT) for trisomy 21 in vanishing twin syndrome pregnancy: A comparison of the NIPT results performed in different gestations
    Chen, Chih-Ping
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2023, 62 (06): : 929 - 930
  • [24] 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)
  • [25] Pre- and post-natal karyotypic discordance for a de novo unbalanced structural chromosome abnormality - an unusual case resulting from apparent instability of the 21q telomeric region
    Duckett, D
    Healey, K
    Steer, J
    Cresswell, L
    Barrow, M
    CYTOGENETICS AND CELL GENETICS, 1999, 85 (1-2): : 147 - 147
  • [26] 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
  • [27] A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome
    Celep, F
    Karaguzel, A
    Aynaci, FM
    Erduran, E
    CLINICAL GENETICS, 1996, 50 (04) : 248 - 250
  • [28] Non-invasive prenatal testing positive results for 22q11.2 deletion syndrome in two consecutive pregnancies of a woman harboring an atypical 22q11.2 deletion
    Bradinova, Irena
    Vazharova, Radoslava
    Bichev, Stoyan
    Raynova, Radostina
    Savov, Alexey
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 109 - 109
  • [29] Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
    Pan, Min
    Li, Fa Tao
    Li, Yan
    Jiang, Fu Man
    Li, Dong Zhi
    Lau, Tze Kin
    Liao, Can
    PRENATAL DIAGNOSIS, 2013, 33 (06) : 598 - 601
  • [30] Fetal aneuploidy screening by non-invasive prenatal testing of maternal plasma DNA sequencing with "false negative" result due to confined placental mosaicism A case report
    Li, Xiaozhou
    Ju, Duan
    Shi, Yunfang
    Li, Yan
    Dong, Haiwei
    Huang, Jianhua
    Zhang, Ying
    MEDICINE, 2020, 99 (29) : E20848