The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly

Autor: Hong-Lei Duan, Xiang-Yu Zhu, Yu-Jie Zhu, Xing Wu, Guang-Feng Zhao, Wan-Jun Wang, Jie Li
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 2, Pp 251-254 (2019)
Druh dokumentu: article
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2019.01.015
Popis: Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly. Materials and methods: This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone invasive prenatal diagnosis at our hospital. CMA was performed in all cases to detect chromosomal aneuploidy as well as copy number variations (CNVs) that are too small to be detected by conventional karyotyping. Real time quantitative PCR (qPCR) or multiplex ligation dependent probe amplification (MLPA) was used to confirm all fetal CNVs
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