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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
Int J Mol Sci
February 2023
Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, 38000 Grenoble, France.
Article Synopsis
- Reciprocal translocation (RT) carriers have a higher risk of infertility, miscarriages, and children with health issues due to the production of unbalanced gametes.
- Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) can help minimize these risks, but there are concerns about the effectiveness of sperm fluorescence in situ hybridization (spermFISH) as a diagnostic tool for RT carriers.
- A study of 41 RT carriers indicated that acrocentric chromosomes lead to more unbalanced gametes, and the variability in balanced sperm rates suggests that using spermFISH routinely may not be beneficial for these patients.
Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier.
J Assist Reprod Genet
January 2023
Département de Génétique Médicale, Unité INSERM U933, Hôpital Armand-Trousseau, AP-HP, 75012, Paris, France.
Introduction: Complex chromosomal rearrangements (CCRs) involve two or more chromosomes and at least three breakpoints. Due to their complexity, they are associated with a high number of unbalanced gametes, whose fertilization is often incompatible with viable fetal development. Preimplantation genetic diagnosis (PGD) is usually offered to those patients and typically shows modest results considering the high number of unbalanced embryos.
View Article and Find Full Text PDFHow symptoms of prolonged grief disorder, posttraumatic stress disorder, and depression relate to each other for grieving ICU families during the first two years of bereavement.
Crit Care
November 2022
Division of Hematology-Oncology, Chang Gung Memorial Hospital at Linkou, Tao-Yuan, Taiwan, R.O.C..
Background: Bereaved ICU family surrogates are at risk of comorbid prolonged grief disorder (PGD), posttraumatic stress disorder (PTSD), and depression. Knowledge about temporal relationships between PGD, PTSD, and depression is limited by a lack of relevant studies and diverse or inappropriate assessment time frames given the duration criterion for PGD. We aimed to determine the temporal reciprocal relationships between PGD, PTSD, and depressive symptoms among ICU decedents' family surrogates during their first 2 bereavement years with an assessment time frame reflecting the PGD duration criterion.
View Article and Find Full Text PDFWhole-genome analysis of a putative rare and complex interchromosomal reciprocal insertion: thorough investigations for a straightforward interpretation.
Reprod Biomed Online
April 2022
Cytogenetic PGD department, University Hospital of Montpellier, Montpellier, France; ART-PGD Department, University Hospital of Montpellier, Montpellier, France.
Research Question: Should whole-genome investigations be considered systematically before a complex chromosomal abnormality preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR) management is carried out using conventional cytogenetic techniques?
Design: A male carrying a putative rare interchromosomal reciprocal insertion (IRI) 46,XY,ins(14;?)(q11;?).ish der(14)ins(14;22)(q11.2;q11.
The Clinical Effectiveness of Preimplantation Genetic Diagnosis for Chromosomal Translocation Carriers: A Meta-analysis.
Glob Med Genet
June 2020
Department of Genetics and Molecular Biology, School of Medicine, Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Published data on the relationship between pregnancy outcomes of preimplantation genetic diagnosis (PGD) in translocation carriers have implicated inconclusive results. To identify potentially eligible reports, an electronic search was conducted in several databases, including PubMed, Scopus, Web of Knowledge, and Cochrane. Pooled odd ratios (ORs) and 95% confidence intervals (Cis) were estimated based on a random-effect model to evaluate the strength of association between PGD and successful pregnancy outcome in translocation carriers.
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