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. We previously showed that a sperm selection process using the hypo-osmotic swelling test (HOST) allows for an 83% reduction in the proportion of unbalanced spermatozoa (US) in male rearrangements carriers. This is the first report of the use of this procedure in a CCR carrier.
Case Description: We report on the case of a 36-year-old male t(4;7;14)(q12;p21;q11.2) carrier who presented to our center for infertility. Sperm fluorescent in situ hybridization showed an 88% proportion of unbalanced spermatozoa. After hypo-osmotic incubation and selection of spermatozoa with a specific flagellar conformation, the proportion of unbalanced spermatozoa dropped to 15%.
Discussion: In the present case, we show that it is possible to select chromosomally balanced prior to in vitro fertilization in male CCR carriers. This technique has the potential of increasing the proportion of euploid embryos and therefore the chances of healthy pregnancy and birth.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840725 | PMC |
| http://dx.doi.org/10.1007/s10815-022-02665-z | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evaluation of coupled SWAT-MODFLOW-NWT model for conjunctive use of surface water and groundwater resources in the Mahabad plain of Iran.
Sci Rep
December 2024
Department of Civil Engineering, Sharif University of Technology, Tehran, Iran.
The Urmia Lake Basin has been severely affected by the unbalanced exploitation of water resources. To better manage the use of integrated water resources, the coupled SWAT-MODFLOW-NWT was adopted for the Mahabad Plain in the Urmia Lake Basin, N.W.
View Article and Find Full Text PDFEffects of Lysophospholipid on Growth Performance, Hepatopancreas Health, and Intestinal Microbiome of in Low-Fishmeal Diet.
Aquac Nutr
December 2024
State Key Laboratory of Biocontrol, Guangdong Provincial Key Laboratory for Aquatic Economic Animals and Southern Marine Science and Engineering Guangdong Laboratory (Zhuhai), School of Life Sciences, Sun Yat-Sen University, Guangzhou 510275, China.
A 56-day culture experiment was conducted to assess the effects of lysophospholipid added to a low-fishmeal diet on growth performance, hepatopancreas health, and intestinal microbiome of . Three experimental diets were set up in this study: normal fishmeal positive control diet (20% fishmeal, P), low fishmeal negative control diet (12% fishmeal, N), and low fishmeal + lysophospholipid diet (12% fishmeal with 0.1% lysophospholipid, L).
View Article and Find Full Text PDFPreimplantation genetic testing for structural rearrangements by genome-wide SNP genotyping and haplotype analysis: a prospective multicenter clinical study.
EBioMedicine
December 2024
Center for Reproductive Medicine, Shandong University, Jinan, Shandong, 250012, China; Key Laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, Shandong, 250012, China; Shandong Key Laboratory of Reproductive Medicine, Jinan, Shandong, 250012, China; Shandong Provincial Clinical Research Center for Reproductive Health, Jinan, Shandong, 250012, China; Shandong Technology Innovation Center for Reproductive Health, Jinan, Shandong, 250012, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong, 250012, China; Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200135, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, 200135, China. Electronic address:
Background: Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) has been widely utilized to select euploid embryos in patients carrying balanced chromosomal rearrangements (BCRs) by chromosome copy number analysis. However, reliable and extensively validated PGT-SR methods for selecting embryos without BCRs in large-cohort studies are lacking.
Methods: In this prospective, multicenter, cohort study, carriers with BCRs undergoing PGT-SR were recruited across 12 academic fertility centers within China.
Prevalence and determinants of healthy and balanced diet among office workers in a sedentary working environment: evidence from Southern Sri Lanka.
BMC Public Health
December 2024
Consultant Community Physician, Health Promotion Bureau, Ministry of Health, Nutrition and Indigenous Medicine, Colombo, Sri Lanka.
Background: An unhealthy diet is a key risk factor for non-communicable diseases (NCD), which account for a significant number of premature deaths and disability-adjusted life years worldwide. Office workers are reported to have unhealthy and unbalanced diets, while being sedentary due to the nature of their work, placing them at a greater risk of NCD. This study aimed to determine dietary intake and associated factors among sedentary office workers in Southern Sri Lanka.
View Article and Find Full Text PDFDeciphering new insights into copy number variations as drivers of genomic diversity and adaptation in farm animal species.
Gene
March 2025
Division of Animal Genetics, ICAR-Indian Veterinary Research Institute, Izatnagar, Bareilly, Uttar Pradesh 243122, India.
The basis of all improvement in (re)production performance of animals and plants lies in the genetic variation. The underlying genetic variation can be further explored through investigations using molecular markers including single nucleotide polymorphism (SNP) and microsatellite, and more recently structural variants like copy number variations (CNVs). Unlike SNPs, CNVs affect a larger proportion of the genome, making them more impactful vis-à-vis variation at the phenotype level.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!