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. 2022 Aug 10;39(8):842-847.
doi: 10.3760/cma.j.cn511374-20210427-00367.

[Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes]

[Article in Chinese]
Weijia Sun  1 , Jiasun Su, Tiansheng Liu, Hongqian Huang, Luping Ouyang, Linlin Wang, Jiao Li, Jingsi Luo
Affiliations

[Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes]

[Article in Chinese]
Weijia Sun et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. .

Abstract

Objective: To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples.

Methods: Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed.

Results: Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms.

Conclusion: Chromosome karyotyping analysis and SNP-array have their own advantages and limitations for the diagnosis of mosaicisms. When the two methods have yielded inconsistent results, fluorescence in situ hybridization may be used for further verification.

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