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Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases.
Cells
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from 23 to 44. Cytogenetic data were obtained by conventional karyotyping of 7118 miscarriages in women with naturally conceived pregnancies.
View Article and Find Full Text PDFClinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.
Genes (Basel)
November 2024
Laboratório de Citogenética Clínica, Centro de Genética Médica, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.
View Article and Find Full Text PDFSomatic mtDNA mutation burden shapes metabolic plasticity in leukemogenesis.
Sci Adv
January 2025
Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Article Synopsis
- The study investigates how somatic mitochondrial DNA mutations influence the development of leukemia, specifically through experiments with hematopoietic progenitor cells (HPCs) from genetically modified mice.
- Researchers found that recipients of heterozygous mtDNA mutator HPCs had a higher spontaneous leukemia incidence, while homozygous mtDNA mutator HPCs had a lower incidence when combined with NMyc overexpression.
- Both types of HPCs exhibited mitochondrial function impairments, but only heterozygous HPCs adapted to the metabolic demands of NMyc overexpression, as demonstrated by altered glucose utilization linked to metabolic changes in homozygous HPCs.
Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss.
Clin Chim Acta
February 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China; Henan Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address:
Background: Chromosome abnormalities are a leading cause of conception failure and pregnancy loss. While traditional cytogenetics technologies like karyotyping have been helpful in identifying structural variations (SVs), they face challenges in detecting complex rearrangements and cryptic structures. In this study, we developed a new method called chromosome conformation based karyotyping (C-MoKa) to comprehensively detect different types of chromosomal abnormalities in patients with conception failure and pregnancy loss.
View Article and Find Full Text PDFAccuracy of cell-free fetal DNA in detecting chromosomal anomalies in women experiencing miscarriage: systematic review and meta-analysis.
Ultrasound Obstet Gynecol
January 2025
Center for Fetal Care and High-Risk Pregnancy, University of Chieti, Chieti, Italy.
Objective: To report the diagnostic accuracy of cell-free fetal DNA (cfDNA) in detecting fetal chromosomal anomalies in women experiencing miscarriage.
Methods: PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to June 2024. The inclusion criteria were women experiencing miscarriage (defined as pregnancy loss before 20 weeks of gestation) who underwent cfDNA screening for trisomies 21, 18 and 13, other autosomal aneuploidies, sex-chromosome aneuploidies and/or copy-number variants (CNVs).
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