Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?

• Main Authors: Xiaoyi Cong (Author), Tong Zhang (Author), Zhenming Li (Author), Xiaojin Luo (Author), Liang Hu (Author), Weiqiang Liu (Author)
• Format: Knjiga
• Izdano: BMC, 2024-05-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Objective This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT) and to evaluate the efficacy of different genetic testing techniques for prenatal diagnosis of trisomy mosaicism. Methods For prenatal diag...