Clinical Investigation of Chromosome Karyotype Analysis with Amniotic Fluids Cell and Parental Peripheral Blood

Wang, Lifang; Kang-ying, Wang; Tu, Haijian; Lin, Kwei-Jay; Hua, Lin

doi:10.7754/clin.lab.2021.210643

Cited by 2 publications

(2 citation statements)

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“…In our study, the most common balanced karyotypic abnormality was translocation (33.33%, 13/39), followed by inversion of chromosome 9 (25.64%, 10/39), polymorphisms in satellites (25.64%, 10/39) and extended heterochromatin area (15.38%, 6/39). Consistent with previous reports 22 , 23 , we found that most of these balanced karyotypic changes and chromosome polymorphisms were inherited. Therefore, parental karyotyping is vital for choosing a supplementary method of CNV-seq in prenatal diagnosis.…”

Section: Discussionsupporting

confidence: 93%

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Zhang

Chen

et al. 2023

Sci Rep

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To elevate the accuracy of diagnostic results, CNV-seq is usually performed simultaneously with karyotyping or QF-PCR. Although several studies have investigated the performance of the combined use of CNV-seq with karyotyping or QF-PCR, there have been no reports focusing on the comparison of these 2 diagnostic strategies. In our study, 2507 pregnant women were included to investigate these 2 strategies. The detection rates of foetal genetic abnormalities and turnaround time were compared between these 2 groups. Moreover, the detection rates of foetal genetic abnormalities in different indications were analyzed. Our results unveiled that the detection rates of numerical chromosomal abnormalities were nearly the same in these 2 groups. In addition to numerical chromosomal abnormalities, 39 balanced karyotypic changes and chromosome polymorphisms were detected via the combined use of karyotyping and CNV-seq. Further investigation revealed that the vast majority of these karyotypic changes were inherited from parents. Compared with the karyotyping group, the combination of QF-PCR and CNV-seq reduced the reporting time from 31.593 ± 4.944 days to 11.460 ± 4.894 days. Meanwhile, NIPT, maternal serum screening and ultrasound scan significantly improved the detection of foetal genetic abnormalities. In conclusion, our results revealed that parental karyotyping is a useful supplementary method for CNV-seq and systematic prenatal examinations improved the detection of foetal genetic defects.

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Section: Discussionsupporting

confidence: 93%

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Zhang

Chen

et al. 2023

Sci Rep

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“…Chromosomes and chromatin, as carriers of genetic information, play a crucial role in the accurate transmission of genetic information through their morphological changes during the cell cycle [1]. Peripheral blood chromosomal karyotype analysis is a key technique for revealing genetic diseases and guiding clinical diagnosis and treatment [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

Optimizing peripheral blood chromosome analysis: effects of refrigeration time and blood volume

Wei

2024

Am J Transl Res

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Objective: This study aims to investigate the impact of refrigeration time and blood volume on the success rate of peripheral blood chromosomal analysis using response surface methodology (RSM). Methods: Peripheral blood samples from 30 volunteers were subjected to chromosomal analysis under different refrigeration duration periods (≤7 days, 8 days, 9 days, 10 days, 11 days, 12 days, 13 days, 14 days) along with different blood volumes (0.2 mL, 0.3 mL, 0.4 mL, 0.5 mL, 0.6 mL, 0.7 mL, and 0.8 mL). The effects of refrigeration time and blood volume on the success rate of peripheral blood chromosomal analysis were determined using the Chi-square test for trend, followed with Spearman's rank correlation coefficient, and RSM analysis to identify the optimal combination of refrigeration time and blood volume. Results: The refrigeration time within 10 days had a minor impact on the success rate, while refrigeration time more than 11 days significantly decreased the success rate. An increase in blood volume slightly improved the success rate. The success rate showed both linear and nonlinear changes with refrigeration time, while the effect of blood volume was primarily linear. The highest success rate was observed at a refrigeration time of ≤7 days and a blood volume of 0.8 mL. The interaction between refrigeration time and blood volume had a significant impact on the success rate. Conclusion: It is recommended to keep the refrigeration time of blood samples within 7 days and control the blood volume at 0.8 mL to maximize the success rate of chromosomal analysis.

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Clinical Investigation of Chromosome Karyotype Analysis with Amniotic Fluids Cell and Parental Peripheral Blood

Cited by 2 publications

References 0 publications

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

Optimizing peripheral blood chromosome analysis: effects of refrigeration time and blood volume

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