Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut 06520-8063, USA.
Curr Opin Obstet Gynecol. 2013 Jun;25(3):201-6. doi: 10.1097/GCO.0b013e32835faafe.
To review the foundations, recent technical advances, and increasing number of applications for in-vitro fertilization with preimplantation genetic diagnosis (PGD).
PGD is an important technique for reducing the burden of genetic disease. Studies have shown that the diagnostic accuracy and subsequent live-birth rate after PGD are impacted by the developmental stage at the time of biopsy, as well as the biopsy protocol used. Also essential for accurate diagnosis are refined mutation detection protocols which avoid the common problem of allele drop-out. As the technique has improved, there has been a concomitant increase in the popularity and breadth of application of PGD. A recently published 10-year dataset of worldwide PGD reveals the increasing frequency of its use and the growing number of indications for which PGD is offered.
Technical advances from biopsy to detection of mutations have led to improved diagnostic accuracy and an increased frequency and breadth of use for PGD.
综述体外受精-胚胎植入前遗传学诊断（PGD）的基础、近期技术进展和不断增加的应用。
PGD 是降低遗传疾病负担的重要技术。研究表明，活检时的发育阶段以及使用的活检方案会影响 PGD 的诊断准确性和随后的活产率。避免等位基因丢失这一常见问题的精细突变检测方案对于准确诊断也很重要。随着技术的改进，PGD 的普及度和应用范围也相应增加。最近发表的一项全球 PGD 10 年数据集显示，PGD 的使用频率不断增加，应用指征也越来越多。
从活检到突变检测的技术进步提高了诊断准确性，增加了 PGD 的使用频率和范围。
