Publications by authors named "Bruno Coprerski"
Purpose: We aimed to identify the correlation between morphological pronuclear (PN) status and the genetically determined ploidy configuration in preimplantation embryos.
Methods: A retrospective observational study was conducted on 1982 embryos displaying normal fertilization and 380 embryos showing an atypical PN pattern, tested for aneuploidies and ploidy status via preimplantation genetic testing (PGT) between May 2019 and May 2024. Ploidy prediction was performed using a validated targeted-NGS approach and a proprietary bioinformatic pipeline analyzing SNPs B-allele frequency information.
Article Synopsis
- Uniform chromosome abnormalities are frequently seen in early pregnancy loss, with mosaic autosomal trisomy present in about 10% of cases, highlighting the need for further understanding of its clinical implications.
- A study analyzed data from a large PGT-A database in Brazil between 2019 and 2022 to evaluate the prevalence of mosaicism in embryos, including factors related to maternal age, embryo development day, and quality.
- Results showed that most mosaic aneuploidies were linked to the last three chromosomes, with various associations found for different clinical conditions, indicating that maternal age and embryo quality significantly affect mosaicism rates.
We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted ventilation system from the fourth month of life.
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