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

• Hlavní autoři: Xiaoyi Cong (Autor), Tong Zhang (Autor), Zhenming Li (Autor), Xiaojin Luo (Autor), Liang Hu (Autor), Weiqiang Liu (Autor)
• Médium: Kniha
• Vydáno: BMC, 2024-05-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...