The clinical value of an automatic chromosome harvester was evaluated, which included a comparison between the manual and automatic harvesting for the isolation of amniotic fluid cell chromosomes. Amniotic fluid samples from 96 high-risk gravida cases identified at 17-25 weeks treated at the Prenatal Diagnostic and Reproductive Center from June to July 2022 were collected. These samples underwent both manual and automatic chromosome collection, and their harvest time and number of amniotic cells were compared. These chromosomes were then used to produce karyotypic data for each sample using an automatic chromosomal karyotype analysis system, scan karyotype. The average automatic harvesting time per sample, 3.92 min, was significantly lower than that of the manual harvesting, 7.89 min ( < 0.001). In addition, the average number of cells from the automatic harvesting (4.16 × 10 pieces) was significantly increased when compared with those of the manual group (2.10 × 10 pieces; < 0.001). Further karyotyping revealed that both sets of chromosomes produced clear bands and good dispersion data, producing no significant differences in these evaluations ( > 0.05). However, the number of analyzable karyotypes obtained using the automatic harvester was significantly higher than those of the manual harvesting ( < 0.001). The automatic chromosome harvester can effectively save time, manual labor and consumables, harvest more analyzable karyotypes, and improve the efficiency of clinical diagnosis. The automatic chromosome harvester is highly stable and repeatable, which has the potential to help achieve large-scale standardized chromosome harvesting and is worthy of widespread clinical promotion.
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http://dx.doi.org/10.1089/gtmb.2023.0047 | DOI Listing |
Ann Hematol
December 2024
Shandong Blood Center, Shandong Hemophilia Treatment Center, Jinan, China.
Hemophilia A (HA) is an X-chromosome-linked recessive genetic disorder. Female carriers may have bleeding symptoms, but rarely have moderate or severe disease. We identified a female patient with moderate HA by pedigree tracking and genetic testing in a HA family involving consanguineous marriage.
View Article and Find Full Text PDFBMC Genomics
November 2024
Department of Computer Science, School of Computer Science and Technology, Xidian University, Xi'an, Shaanxi, 710071, China.
Background: Complex genomic rearrangements (CGRs) drive the restructuring of chromatin architecture, resulting in significant interactions among rearranged fragments, visible as anomalous interaction blocks in chromatin contact maps generated by chromosome conformation capture technologies such as Hi-C. These blocks not only offer the orientation and genome coordinates of rearranged fragments but also filter out false positive CGRs, thereby facilitating CGR assembly. Despite this, there is a lack of interactive graphical software tailored for this purpose.
View Article and Find Full Text PDFFront Genet
November 2024
Department of Animal Sciences, Purdue University, West Lafayette, IN, United States.
G3 (Bethesda)
November 2024
Hubei Key Laboratory of Three Gorges Project for Conservation of Fishes, Yichang 443100, China.
Genome assembly errors can have a profound effect on downstream analyses. Collinearity-based Assembly Correction Tool (CATG) is designed to rectify these errors by leveraging collinearity information between the assembled genome and a reference genome. CATG provides a user-friendly interface for visualizing and manually correcting assembly errors.
View Article and Find Full Text PDFHum Reprod
November 2024
IVIRMA Global Research Alliance, Genera, Clinica Valle Giulia, Rome, Italy.
Study Question: What are the implications of the presence cytoplasmic strings (Cyt-S) and their quantity and dynamics for the pre-implantation development of human blastocysts?
Summary Answer: Cyt-S are common in human embryos and are associated with faster blastocyst development, larger expansion, and better morphological quality.
What Is Known Already: Cyt-S are dynamic cellular projections connecting inner cell mass and trophectoderm (TE) cells, that can be observed during blastocyst expansion. Their prevalence in human embryos has been estimated to be between 44% and 93%.
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