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The relationship between mitochondrial DNA (mtDNA) copy number and the outcome of embryo transfer is under debate. Our aim was to explore the relationship between mtDNA copy number in human blastocysts and embryonic development to determine whether mtDNA represents a novel biomarker for the prediction of implantation potential. A total of 246 blastocysts were analyzed by next-generation sequencing. There was no correlation between mtDNA copy number and maternal age in all blastocyst groups and euploid blastocyst groups. Additionally, the mtDNA copy number was not significantly higher in aneuploid blastocysts. Subsequently, no relationship was observed between mtDNA copy number and blastocyst quality. The assessment of clinical pregnancy outcome after the transfer of euploid blastocysts to the uterus indicated that the mtDNA copy number was significantly lower in the clinical pregnancy group than in those who failed implantation. The cut-off value of mtDNA copy number was 320.5, which was a highly predictive value. Blastocysts with an increased mtDNA copy number had lower implantation potential, and mtDNA copy number was largely equal in terms of maternal age, chromosome ploidy, and quality of blastocysts.
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http://dx.doi.org/10.1016/j.jmoldx.2021.02.006 | DOI Listing |
Front Genet
August 2025
Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Objective: The aim of this study was to determine the diagnostic value of prenatal chromosomal microarray analysis (CMA) for fetuses at high risk for various conditions on chromosomal abnormalities.
Methods: In the study, 8,560 clinical samples were collected from pregnant women between February 2018 and June 2022, including 75 villus, 7,642 amniotic fluid, and 843 umbilical cord blood samples. All samples were screening for chromosomal abnormalities using both CMA and karyotyping.
J Med Case Rep
September 2025
Department of Anesthesiology, LMU University Hospital Munich LMU, Marchioninistrasse 15, 81377, Munich, Germany.
Background: The treatment of critically ill patients in intensive care units is becoming increasingly complex. For example, organ transplants are regularly carried out, the recipients are seriously ill, and the postoperative course can be complicated. This is why organ replacement and hemadsorption procedures are becoming increasingly important.
View Article and Find Full Text PDFGenome Biol
September 2025
Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, 100101, Beijing, China.
Background: Centromeres are crucial for precise chromosome segregation and maintaining genome stability during cell division. However, their evolutionary dynamics, particularly in polyploid organisms with complex genomic architectures, remain largely enigmatic. Allopolyploid wheat, with its well-defined hierarchical ploidy series and recent polyploidization history, serves as an excellent model to explore centromere evolution.
View Article and Find Full Text PDFMol Genet Genomic Med
September 2025
Department of Maternal-Fetal Medicine, Augusta University, Augusta, Georgia, USA.
Introduction: Spinal muscular atrophy (SMA), caused by pathogenic variants in the survival motor neuron (SMN) gene, is the most common genetic cause of mortality in children under the age of two. Prior reports of obstetric sonograms performed in pregnancies with severe forms of fetal SMA have discrepant findings that may stem from a failure to account for the SMN2 copy number.
Methods: We present a neonate diagnosed with SMA type 0 postnatally (0SMN1/1SMN2 genotype).
JDS Commun
September 2025
Livestock Improvement Corporation Ltd., Newstead, Hamilton 3240, New Zealand.
SLICK1 is an allelic variant of the prolactin receptor () that is found in Senepol beef cattle. The presence of a single copy of this allele produces a short hair coat and confers heat tolerance. We aimed to determine the effect of 2 copies of this allele on milking performance of dairy cattle.
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