The European Society of Human Reproduction and Embryology (ESHRE) Ethics Task Force sets out a recommended multidisciplinary approach to the application of preimplantation genetic diagnosis (PGD). The statement includes consideration of fundamental ethical principles, specific problems in cases of high genetic risk, and PGD for aneuploidy screening, HLA typing and sex selection for non-medical reasons.
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http://dx.doi.org/10.1093/humrep/deg110 | DOI Listing |
Background: Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.
Methods: Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization.
Medicine (Baltimore)
January 2025
The Reproductive Medicine Centre, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.
Rationale: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy.
View Article and Find Full Text PDFJ Hum Reprod Sci
December 2024
Department of Genomics, Sandor Speciality Diagnostics, Hyderabad, Telangana, India.
Int J Fertil Steril
January 2025
Reproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalence and inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavors to assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetic testing-A (PGT-A) services in Indonesia. Specifically focusing on our center's experience since 2020, this study aims to elucidate mosaic rates among embryos in our care.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Department of Human Genetic, Altamedica, Rome, Italy.
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