Review: Preimplantation genetic diagnosis (PGD) as a reproductive option in patients with neurodegenerative disorders |
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| Authors: | Romualdo Sciorio Raffaele Aiello Alfonso Maria Irollo |
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| Affiliation: | 1. Edinburgh Assisted Conception Programme, EFREC, Royal Infirmary of Edinburgh, 51 Little France Crescent, Old Dalkeith Road, Edinburgh, Scotland, EH164SA, UK;2. IVF Department, Chianciano Salute Clinic, Via C. Marchesi 73, Chianciano Terme, Siena, Italy;3. OMNIA Lab Scarl, Via Cesare Rosaroll 24, 80139 Naples, Italy;1. Department of Epidemiology, School of Public Health, Shanxi Medical University, Taiyuan, 030001, Shanxi, China;2. Department of Obstetrics, The First Affiliated Hospital, Shanxi Medical University, Taiyuan, 030001, Shanxi, China;3. Department of Public Health Laboratory Sciences, School of Public Health, Shanxi Medical University, Taiyuan, 030001, China;4. Department of Otolaryngology, Head & Neck Surgery, The First Affiliated Hospital, Taiyuan, 030001, Shanxi, China;5. Department of Health Statistics, School of Public Health, Shanxi Medical University, Taiyuan, 030001, China;1. Department of Mesenchymal Stem Cells, Academic Center for Education, Culture and Research, Qom Branch, Qom, Iran;2. Department of Reproductive Biology, Academic Center for Education, Culture and Research, Qom Branch, Qom, Iran;1. Physiologie de la Reproduction et des Comportements, INRAE, CNRS, IFCE, University of Tours, 37380, Nouzilly, France;2. Allice, 37380, Nouzilly, France;3. Faculty of Sciences and Techniques, Tours University, 37200, Tours, France;1. Key Laboratory of Brain Functional Genomics (Ministry of Education and Shanghai), School of Life Sciences, East China Normal University, Shanghai, China;2. Department of Biochemistry and Molecular Cell Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, China |
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| Abstract: | Preimplantation genetic diagnosis (PGD) was introduced in the late 1980s and represents an option for couples at risk of transmitting an inherited, debilitating or neurological disorder to their children. From a cleavage or blastocyst stage embryo, cell(s) are collected and then genetically analyzed for disease; enabling an unaffected embryo to be transferred into the uterus cavity. Nowadays, PGD has been carried out for several hundreds of heritable conditions including myotonic dystrophy, and for susceptibility genes involved in cancers of the nervous system. Currently, advanced molecular technologies with better resolution, such as array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing, are on the verge of becoming the gold standard in embryo preimplantation screening. Given this, it may be time for neurological societies to consider the published evidence to develop new guidelines for the integration of PGD into modern preventative neurology. Therefore, the main aim of this review is to illustrate the option of PGD to enable conception of an unaffected baby, and to assist clinicians and neurologists in the counseling of the patient at risk of transmitting an inherited disease, to explore the genetic journey throughout in vitro fertilization IVF with PGD. |
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| Keywords: | In vitro fertilization (IVF) and embryo culture Preimplantation genetic diagnosis (PGD) Cleavage stage and blastocyst biopsy Single gene disorder Neurodegenerative diseases (NDs) |
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