Prenatal detection of copy number variants in fetuses with detected congenital devolpmental disordes, from 2015 to 2020 by Multiplex Ligation-Dependent Probe Amplification and microarray analysis

多重连接依赖探针扩增 多路复用 核型 微阵列 拷贝数变化 生物 遗传学 染色体 分子生物学 基因 基因组 外显子 基因表达
作者
Andrea Štefeková,Pavlina Capkova,Václava Curtisová,Enghjargalan Mracká,Hana Filipová,Zuzana Capkova,Martin Prochazka,Marek Lubusky,Radovan Pilka,Radek Vrtel
出处
期刊:Ceská gynekologie / Ceská lékarská spolecnost J. Ev. Purkyne [Czech Medical Association of J. E. Purkyně]
卷期号:88 (3): 162-171
标识
DOI:10.48095/cccg2023162
摘要

Analysis of prenatal samples from 2015 to 2020. Comparison detection rates of clinically relevant variants by cytogenetic karyotype analysis and cytogenomic MLPA (Multiplex Ligation-Depent Probe Amplification) and microarray methods (CMA - chromosomal microarray).1,029 prenatal samples were analyzed by cytogenetic karyotyping (N = 1,029), cytogenomic methods - MLPA (N = 144) and CMA (N = 111). All unbalanced changes were confirmed by MLPA or CMA.From the analyzed set of fetuses, after subtraction of aneuploidies - 107 (10.40%, N = 1,029), 22 structural aberrations (2.39%, N = 922) - nine unbalanced changes (0.98%), 10 balanced changes (1.08%), one case of unclear mosaicism (0.09%), one case of presence of a marker chromosome (0.09%) and one case of sex discordance (0.09%) - were detected by karyotype analysis. A total of eight (7.21%, N = 111) pathological variants were detected by CMA in 255 samples with physiological karyotype indicated for cytogenomic examination. Five (3.47%, N = 144) of eight pathogenic variants were detected by MLPA method. The total capture of pathogenic variants by MLPA and CMA methods was 14 (5.14%) and 17 (6.25%) (N = 272), including confirmatory pathological karyotype testing. Detection of pathological variants in the isolated disorders group was lower than in the multiple disorders group (5.08 vs. 21.42%).A higher success rate for the detection of pathological copy number variation variants by the microarray method than by the MLPA method was confirmed.

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