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Background: Recurrent Implantation Failure (RIF) is defined as the inability to establish pregnancy despite high-quality embryo transfer after the application of at least three consecutive in vitro fertilization (IVF)/intracytoplasmic sperm injection-embryo transfer procedures. Chromosomal abnormalities are one of the primary reasons for pregnancy failure, miscarriage, and birth defects in both natural conception and IVF pregnancies. This study was to evaluate the incidence of chromosomal abnormalities in peripheral blood samples from 100 couples who experienced RIF.
Methods: Chromosomal structure analysis was conducted on peripheral blood samples from 100 couples who experienced RIF between 2018 and 2022. Additionally, cytogenetic assessments were conducted on 200 healthy individuals without clinical issues to ensure the accuracy. The GTG-Banding technique was employed in our research.
Results: Out of the 200 individuals who faced RIF, six (3%) exhibited chromosomal abnormalities, comprising five (83.3%) men and one (16.6%) woman. Translocation was the main type of autosomal structural abnormalities; also, we found one inversion and one pstk - (population polymorphism). Conversely, no chromosomal abnormalities were detected in the control group. We found chromosomal abnormalities in 3% of study participants who had experienced RIF.
Conclusion: Chromosomal abnormalities significantly contribute to RIF. Therefore, it is imperative to conduct cytogenetic screening for both partners before initiating any assisted reproductive technology procedures.
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http://dx.doi.org/10.1002/mgg3.70137 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12413484 | PMC |
Eur J Obstet Gynecol Reprod Biol
August 2025
Reproductive Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen 518000 Guangdong, China; Shenzhen Clinical Research Center for Obstetrics & Gynecology and Reproductive System Diseases, Shenzhen 518000 Guangdong, China. Electronic address: szfyart
Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.
Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.
Mol Genet Genomic Med
September 2025
Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.
Background: Human chimerism is rare, and most prevalent with discordant chromosomal sex. We report a male 46,XY/46,XY chimera, born through a spontaneously conceived pregnancy to a healthy 32-year-old G1P0 Indian, African, and Scottish female and her 34-year-old healthy Chinese partner. The prenatal presentation and postnatal outcomes are described.
View Article and Find Full Text PDFMol Genet Genomic Med
September 2025
Cytogenetic Laboratories, Shahid Beheshti Hospital, Hamadan University of Medical Sciences, Hamadan, Iran.
Background: Recurrent Implantation Failure (RIF) is defined as the inability to establish pregnancy despite high-quality embryo transfer after the application of at least three consecutive in vitro fertilization (IVF)/intracytoplasmic sperm injection-embryo transfer procedures. Chromosomal abnormalities are one of the primary reasons for pregnancy failure, miscarriage, and birth defects in both natural conception and IVF pregnancies. This study was to evaluate the incidence of chromosomal abnormalities in peripheral blood samples from 100 couples who experienced RIF.
View Article and Find Full Text PDFJ Dairy Sci
September 2025
Department of Animal and Dairy Sciences, University of Wisconsin, Madison, WI, 53706. Electronic address:
Fertility traits such as daughter pregnancy rate (DPR), cow conception rate, and heifer conception rate are key predictors of reproductive performance in dairy herds. However, their low heritability, likely due to their multifactorial nature and difficulty in measuring phenotypes, poses challenges for genetic improvement. Oocyte competence, encompassing nuclear and cytoplasmic maturation, is a critical factor influencing fertility.
View Article and Find Full Text PDFMar Biotechnol (NY)
September 2025
Engineering Research Center of Polyploidy fish Reproduction and Breeding of the State Education Ministry, College of Life Science, Hunan Normal University, Changsha, 410081, People's Republic of China.
Triploid cyprinid fish (TCF, 3N = 150) is a novel hybrid fish showing great disease resistance during aquaculture processes. However, the majority of Aeromonas strains act as opportunistic pathogens that can cause a variety of diseases and pose a notable health risk. In this investigation, a novel Aeromonas sp.
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