Moustakli Efthalia, Zikopoulos Athanasios, Skentou Charikleia, Bouba Ioanna, Dafopoulos Konstantinos, Georgiou Ioannis
Laboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.
Obstetrics and Gynecology, Royal Devon and Exeter Hospital Barrack Rd, Exeter EX2 5DW, UK.
J Clin Med. 2024 Apr 9;13(8):2160. doi: 10.3390/jcm13082160.
Preimplantation genetic testing (PGT) has become a common supplementary diagnοstic/testing tοol for in vitro fertilization (ΙVF) cycles due to a significant increase in cases of PGT fοr mοnogenic cοnditions (ΡGT-M) and de novο aneuplοidies (ΡGT-A) over the last ten years. This tendency is mostly attributable to the advancement and application of novel cytogenetic and molecular techniques in clinical practice that are capable of providing an efficient evaluation of the embryonic chromosomal complement and leading to better IVF/ICSI results. Although PGT is widely used, it requires invasive biopsy of the blastocyst, which may harm the embryo. Non-invasive approaches, like cell-free DNA (cfDNA) testing, have lower risks but have drawbacks in consistency and sensitivity. This review discusses new developments and opportunities in the field of preimplantation genetic testing, enhancing the overall effectiveness and accessibility of preimplantation testing in the framework of developments in genomic sequencing, bioinformatics, and the integration of artificial intelligence in the interpretation of genetic data.
由于过去十年中用于单基因疾病(PGT-M)和新发非整倍体(PGT-A)的植入前基因检测(PGT)病例显著增加,PGT已成为体外受精(IVF)周期中一种常见的辅助诊断/检测工具。这种趋势主要归因于新型细胞遗传学和分子技术在临床实践中的进步和应用,这些技术能够对胚胎染色体组成进行有效评估,并带来更好的IVF/ICSI结果。尽管PGT被广泛使用,但它需要对囊胚进行侵入性活检,这可能会损害胚胎。非侵入性方法,如游离DNA(cfDNA)检测,风险较低,但在一致性和敏感性方面存在缺点。本综述讨论了植入前基因检测领域的新进展和机会,在基因组测序、生物信息学以及人工智能在遗传数据解读中的整合发展框架内,提高植入前检测的整体有效性和可及性。