Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
Expert Rev Mol Diagn. 2024 Sep;24(9):767-775. doi: 10.1080/14737159.2024.2390187. Epub 2024 Aug 11.
Preimplantation Genetic Testing (PGT) is a cutting-edge test used to detect genetic abnormalities in embryos fertilized through Medically Assisted Reproduction (MAR). PGT aims to ensure that embryos selected for transfer are free of specific genetic conditions or chromosome abnormalities, thereby reducing chances for unsuccessful MAR cycles, complicated pregnancies, and genetic diseases in future children.
In PGT, genetics, embryology, and technology progress and evolve together. Biological and technological limitations are described and addressed to highlight complexity and knowledge constraints and draw attention to concerns regarding safety of procedures, clinical validity, and utility, extent of applications and overall ethical implications for future families and society.
Understanding the genetic basis of diseases along with advanced technologies applied in embryology and genetics contribute to faster, cost-effective, and more efficient PGT. Next Generation Sequencing-based techniques, enhanced by improved bioinformatics, are expected to upgrade diagnostic accuracy. Complicating findings such as mosaicism, mt-DNA variants, variants of unknown significance, or variants related to late-onset or polygenic diseases will however need further appraisal. Emphasis on monitoring such emerging data is crucial for evidence-based counseling while standardized protocols and guidelines are essential to ensure clinical value and respect of Ethical, Legal and Societal Issues.
胚胎植入前遗传学检测（PGT）是一种通过医学辅助生殖（MAR）检测胚胎遗传异常的尖端技术。PGT 的目的是确保选择进行转移的胚胎没有特定的遗传条件或染色体异常，从而降低 MAR 周期不成功、复杂妊娠和未来儿童遗传疾病的几率。
在 PGT 中，遗传学、胚胎学和技术共同进步和发展。本文描述并解决了生物学和技术上的限制，以突出复杂性和知识限制，并提请人们关注程序安全性、临床有效性和实用性、应用范围以及对未来家庭和社会的整体伦理影响等问题。
了解疾病的遗传基础，以及胚胎学和遗传学中应用的先进技术，有助于实现更快、更具成本效益和更高效的 PGT。基于下一代测序的技术，结合改进的生物信息学，预计将提高诊断准确性。然而，需要进一步评估嵌合体、mt-DNA 变体、意义不明的变体或与迟发性或多基因疾病相关的变体等复杂发现。强调监测此类新兴数据对于基于证据的咨询至关重要，同时标准化的协议和指南对于确保临床价值和尊重伦理、法律和社会问题也至关重要。
