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Analysis of Cellular DNA Content in Pleural Effusion by Flow Cytometry During Lung Cancer Progression: A Case Report.
Cureus
December 2024
Department of Cancer Biochemistry and Radiobiology, Institutul Oncologic Prof. Dr. Alexandru Trestioreanu, Bucharest, ROU.
Malignant pleural effusion (MPE) is a common feature in patients with advanced or metastatic malignancies. While significant progress has been made in understanding the biology of pleural effusions, further research is needed to uncover the subsequent behavior of tumor cells following their invasion into the pleural space. This report utilizes flow cytometry to analyze DNA content abnormalities (aneuploidy) and cell cycle status, shedding light on the tumor cell populations present in MPE samples from a patient with lung adenocarcinoma during treatment.
View Article and Find Full Text PDFIdentification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.
Sci Rep
January 2025
Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
View Article and Find Full Text PDFThe value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy.
Sci Rep
January 2025
Medical Genetic Centre, Guangdong Women and Children Hospital, Guangzhou, 511442, Guangdong, China.
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform. This study recruited a cohort of 59,800 singleton pregnancies from Guangdong Women and Children Hospital between January 2015 and December 2020, including 48,018 cases of NIPT and 11,782 cases of expanded NIPT. Cell-free DNA from plasma samples was sequenced at a sequencing depth of 0.
View Article and Find Full Text PDFVisualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results.
BMC Med Genomics
January 2025
Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, SE-751 85, Sweden.
Background: Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data.
View Article and Find Full Text PDFEndometriosis does not impact aneuploidy rates of products of conception in IVF population.
Sci Rep
January 2025
Centre for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
It has been debated whether endometriosis (EMS) adversely affects oocyte quality, potentially leading to a higher incidence of genetically unbalanced embryos or other egg factors that affect the developmental potential. In this study, we explored the effects of endometriosis on risk of chromosomally aberrant in miscarried products of conception (POC) after assisted reproductive treatment (ART), including fresh and frozen cycles. Miscarried POCs were collected from EMS patients (N = 102) and non-EMS patients (N = 441).
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