Fujian Provincial Matenity and Children's Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
J Obstet Gynaecol Res. 2023 Dec;49(12):2836-2848. doi: 10.1111/jog.15804. Epub 2023 Oct 16.
The application of classical cytogenetic and DNA-based molecular techniques to detect cell lineages of mosaicism derived from cultured or noncultured fetal cells may result in discordant results. This retrospective study aimed to assess the inconsistent diagnostic outcomes, technical availability, and limitations of chromosomal microarray analysis (CMA) and karyotyping for mosaicism.
A total of 75 fetuses diagnosed with mosaicism by karyotype analysis or CMA were selected, and the results from both the methods were compared and further analyzed.
A total of 42 (56%, 42/75) CMA results were consistent with karyotypes, consisting of 22 cases of mosaic sex chromosomal abnormalities, 8 routine autosomal aneuploidy cases, 8 other autosome aneuploidy cases, 3 large cryptic genomic rearrangements, and 1 small supernumerary marker chromosome. Discrepancy between karyotype analysis and CMA was observed in 33 (44%, 33/75) mosaicisms involving 15 sex chromosomal abnormalities, 1 routine autosomal aneuploidies, 5 other autosome aneuploidy cases, 8 large cryptic genomic rearrangements, and 4 small supernumerary marker chromosomes.
Considering the disparities between methods as well as the cell populations analyzed, both CMA and karyotype analysis have their own advantages and disadvantages. Therefore, CMA should ideally be used in combination with karyotyping to detect more cases of mosaicism than using either test alone.
应用经典细胞遗传学和基于 DNA 的分子技术来检测源自培养或未培养胎儿细胞的嵌合体细胞谱系，可能会导致结果不一致。本回顾性研究旨在评估染色体微阵列分析（CMA）和核型分析在嵌合体检测中的不一致诊断结果、技术可用性和局限性。
共选择了 75 例经核型分析或 CMA 诊断为嵌合体的胎儿，并对两种方法的结果进行了比较和进一步分析。
共 42 例（56%，42/75）CMA 结果与核型一致，包括 22 例性染色体异常嵌合体、8 例常规常染色体非整倍体、8 例其他常染色体非整倍体、3 例大的隐匿性基因组重排和 1 例小的额外标记染色体。33 例（44%，33/75）嵌合体核型分析与 CMA 结果不一致，包括 15 例性染色体异常、1 例常规常染色体非整倍体、5 例其他常染色体非整倍体、8 例大的隐匿性基因组重排和 4 例小的额外标记染色体。
考虑到方法之间以及分析的细胞群体之间的差异，CMA 和核型分析各有优缺点。因此，CMA 应与核型分析结合使用，以比单独使用任何一种方法检测到更多的嵌合体病例。
