植入前遗传学检测技术在单基因病和染色体平衡易位中的应用进展

Recent advances of preimplantation genetic testing technology in monogenic disease and balanced chromosomal translocation

植入前遗传学检测(PGT)应用于单基因病、染色体病、高龄和反复流产的患者,阻断了遗传缺陷向子代传递,提高了临床妊娠率。近年来,微阵列芯片和二代测序等PGT技术不断发展,提高了检测准确性,降低了误诊率,但仍然存在检测时间长、成本高、等位基因脱扣和无法识别染色体平衡易位等问题。针对以上问题,近来有新的技术方法应用于临床,能准确识别携带致病基因的染色体,鉴别易位携带状态的胚胎,提高异常胚胎的检出率,改善子代的临床结局。本文从PGT技术的发展进程、PGT技术在单基因病阻断和染色体平衡易位胚胎识别中的应用等方面进行综述。

Preimplantation genetic testing(PGT)has been widely applied in monogenic disease,chromosome aberrant,advanced age and recurrent spontaneous abortion,which blocks the transmission of genetic defects to the offspring and improves the clinical pregnancy rate.The development of PGT technologies such as microarray and next generation sequencing improves the accuracy and reduces the misdiagnosis rate.However,there are still some limitations such as time consuming,high cost,allele drop out and unavailable to detect balanced chromosomal translocation.In response to the above problems,new technologies have been applied in clinical testing,which can accurately identify the chromosomes carrying pathogenic genes and the embryos with balanced chromosomal translocation,improve the diagnosis rate of abnormal embryos and the clinical outcome of offspring.This paper reviews the development of PGT technology and its application in monogenic disease and balanced chromosomal translocation.