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
  • [31] 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
  • [32] Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1/qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result
    Chen, Chih-Ping
    Chen, Shin-Wen
    Wang, Liang-Kai
    Chern, Schu-Rern
    Wu, Peih-Shan
    Wu, Fang-Tzu
    Chen, Li-Feng
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2022, 61 (06): : 1039 - 1043
  • [33] Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling
    Feresin, Agnese
    Stampalija, Tamara
    Cappellani, Stefania
    Bussani, Rossana
    Faletra, Flavio
    Murru, Flora
    Ulivi, Sheila
    Suergiu, Sarah
    Savarese, Pasquale
    Pedicini, Antonio
    Policicchio, Margherita
    Ruggiero, Raffaella
    Bosio, Barbara
    Savarese, Giovanni
    Ardisia, Carmela
    FRONTIERS IN GENETICS, 2022, 13
  • [34] Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
    Haj, Roland
    Jackson, Kelly
    Torchia, Beth A.
    Shaffer, Lisa G.
    Bejjani, Bassem A.
    Gowans, Gordon C.
    Ruff, Michael E.
    MOLECULAR CYTOGENETICS, 2009, 2
  • [35] Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
    Roland Haj
    Kelly Jackson
    Beth A Torchia
    Lisa G Shaffer
    Bassem A Bejjani
    Gordon C Gowans
    Michael E Ruff
    Molecular Cytogenetics, 2