Selective growth of mosaic cells in chromosomal analysis of chorionic villi by conventional karyotyping

Zhang, Yingying; Lei, Qiong; Liu, Juan; Lin, Mingmei; Luo, Lan; Li, Tin‐Chiu; Wang, Qiong; Zhou, Canquan

doi:10.1016/j.mcp.2020.101532

Cited by 8 publications

(4 citation statements)

References 32 publications

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“…The bias between karyotyping and uncultured results was distinct in previous reports. [10][11][12][13][14] Most reports involving mosaicisms focused on CPM and true fetal mosaicisms (TFM) in chorionic villus sampling rather than TFM itself in AF. In the present study, we also compared the mosaic ratio of two cultures, and the CV value was as high as 118.5%.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis

et al. 2023

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Objective The prenatal diagnosis of chromosomal mosaicism is fraught with uncertainty. Karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) are three commonly used techniques. In this study, we evaluated these techniques for the prenatal diagnosis of chromosomal mosaicism and its clinical outcome. Study Design A retrospective review of mosaicism was conducted in 18,369 pregnant women from January 2016 to November 2021. The subjects underwent amniocentesis to obtain amniotic fluid for G-band karyotyping with or without CMA/FISH. Cases diagnosed with chromosomal mosaicism were selected for further analysis. Results In total, 101 cases of chromosomal mosaicism were detected in 100 pregnant women (0.54%, 100/18,369). Four were lost during follow-up, 61 opted to terminate their pregnancy, and 35 gave birth to a healthy singleton or twins. Among these 35 cases, postnatal cytogenetic testing was performed on eight and two exhibited mosaicism; however, nothing abnormal was observed in the postnatal phenotype follow-up. Karyotyping identified 96 incidents of chromosomal mosaicism including 13 with level II mosaicism and 83 with level III mosaicism, FISH identified 37 cases of mosaicism, and CMA identified 17. The most common form of chromosomal mosaicism involved monosomy X, of which the mosaic fraction in cultured karyotyping appeared higher or comparable to uncultured FISH/CMA (p < 0.05). Discordant mosaic results were observed in 34 of 101 cases (33.7%), most of which resulted from the detection limit of different techniques and/or the dominant growth of a certain cell line. Conclusion Based on the postnatal follow-up results from the babies born, we obtained a more hopeful result for the prognosis of chromosomal mosaicism. Although karyotyping was the most sensitive method for detecting chromosomal mosaicism, artifacts and bias resulting from culture should be considered, particularly for sex chromosomal abnormalities involving X monosomy, in which the combination with uncultured FISH was necessary. Key Points

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis

et al. 2023

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“…Karyotypes gradually change among species and genera. They are not static and can be replaced by genomic units, which corresponds to the genome theory in genetics [27]. The basic trend in karyotype evolution in higher plants is from a symmetrical to asymmetrical karyotype.…”

Section: Karyotype Evolutionary Trends Of Dandelion Chromosomes and Tmentioning

confidence: 99%

Karyomorphological Study of Taraxacum in Northeast China

Xing

Haotao

et al. 2020

Preprint

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Background: Dandelions ( Taraxacum ) comprise more than 2,000 species distributed worldwide, including 70 species in China and over 20 species in Northeast China. It is an edible plant used also in traditional Chinese medicine. Methods: Chromosome number was determined by conventional tableting, and karyotypes were analyzed. We determined the number of mitotic chromosomes, karyotype characteristics, and morphology of Taraxacum germplasm resources collected in Northeast China. The data were compared with those in the Chromosome Counts Database (CCDB) using principal component analysis (PCA) and cluster analysis. Results: The collected Taraxacum species included diploids, triploids, and tetraploids, with chromosome numbers of 2n = 16, 24, and 32, respectively. The karyotypes showed metacentric and submetacentric chromosomes and satellites. The absolute length of a single chromosome was 3.56–31.68 μm, and the karyotype asymmetry coefficient was 59.68%–67.45%. PCA of karyotype data showed that chromosome size, long arm length, and short arm length formed PC1. Cluster analysis based on karyotype data of the 18 species supported the taxonomic classification of this genus in the Flora of China . Conclusions: Our results indicate that karyotype analysis can be used as cytological evidence for Taraxacum taxonomy. We also determined that among the 18 Taraxacum species, triploid species were more evolved than diploid and tetraploid species. We believe that our results provide a basis for further research in Taraxacum germplasm resources and lay the experimental foundation for further development of Taraxacum in traditional Chinese medicine.

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“…Though karyotyping has been the gold standard prenatal diagnostic method for detection of chromosomal abnormalities, this technique has many limitations, such as labor intensive and longer laboratory turnaround time [ 7 ], higher failure rate for low quality and viability of samples [ 8 ]. Most important of all, smaller genomic imbalances including microdeletions and microduplications, which could be detected by chromosomal microarrays (CMA) are undetectable by karyotyping [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency

et al. 2022

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Objective To evaluate if the NT value of 2.5 mm ≤ NT < 3.0 mm is an appropriate indication for CMA tests among fetuses with isolated increased NT and NIPT is more suitable instead. Methods A total of 442 fetuses with NT ≥ 2.5 mm were included, in which 241 fetuses underwent karyotype. CMA tests were then carried out when cytogenic analysis showed normal chromosomes and CNV status was compared between 2.5 mm ≤ NT < 3.0 mm and ≥3.0 mm subgroups. For the NIPT evaluation, 201 of 442 fetuses with smaller increased NT (2.5 mm ≤ NT < 3.0 mm) was examined by either NIPT or karyotype. Results Of the 241 fetuses with NT ≥ 2.5 mm, 47(19.50%) were identified by karyotype with chromosomal abnormalities. Among 194 cases with normal karyotype, CMA unraveled additional CNVs in 16(8.25%) cases, including 3(1.55%) pathogenic CNVs, 2(1.03%) likely pathogenic CNVs and 11(5.67%) VOUS. After the subgroup analysis, however, only one case (1.16%) of likely pathogenic was identified by CMA among 86 fetuses with NT between 2.5 mm and 3.0 mm, whereas the rest of 15 CNV cases were all presented in fetuses with NT ≥ 3.0 mm. For the NIPT evaluation, the detection rate of 201 fetuses with isolated increased NT between 2.5 and 3.0 mm was 3.98%, which was indifferent to karyotype with the rate of 5%. In comparison with fetuses with 2.5–3.0 mm combined with other risks, the detection rate of karyotype was 26.92%. Conclusion While no pathogenic CNVs were detected in fetuses, chromosomal aneuploidies and genomic imbalance were found to be the major type of abnormalities when NT was 2.5–3.0 mm. Therefore, our data suggested that CMA should not be recommended when fetuses with an NT value less than 3.0 mm. Instead, NIPT with similar rate of detection as karyotype was recommended for fetuses with isolated increased NT between 2.5 and 3.0 mm.

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Selective growth of mosaic cells in chromosomal analysis of chorionic villi by conventional karyotyping

Cited by 8 publications

References 32 publications

Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis

Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis

Karyomorphological Study of Taraxacum in Northeast China

Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency

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