Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Vanderbilt University School of Medicine, Nashville, TN 37232, USA Fertility Associates of Memphis, Memphis, TN, USA
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Vanderbilt University School of Medicine, Nashville, TN 37232, USA Fertility Associates of Memphis, Memphis, TN, USA.
BMJ. 2015 Feb 19;350:g7611. doi: 10.1136/bmj.g7611.
Genetic diagnostic technologies are rapidly changing the way medicine is practiced. Preimplantation genetic testing is a well established application of genetic testing within the context of in vitro fertilization cycles. It involves obtaining a cell(s) from a developing embryo in culture, which is then subjected to genetic diagnostic analysis; the resulting information is used to guide which embryos are transferred into the uterus. The potential applications and use of this technology have increased in recent years. Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications of such testing, such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most.
遗传诊断技术正在迅速改变医学实践的方式。胚胎植入前遗传学检测是在体外受精周期中对遗传检测的一种成熟应用。它涉及从培养中的胚胎中获取一个或多个细胞，然后对其进行遗传诊断分析；所得到的信息用于指导将哪些胚胎移植到子宫中。近年来，这种技术的潜在应用和用途有所增加。专家们一致认为，胚胎植入前基因诊断对于许多已知的遗传疾病是临床适用的。然而，这种检测的一些应用，如非整倍体的胚胎植入前遗传学筛查，仍然存在争议。临床数据表明，胚胎植入前遗传学筛查可能是有用的，但需要进一步的研究来量化其效果的大小以及谁将受益最大。
