CAJ | 학술논문

随着辅助生殖技术和遗传学分析技术的发展，胚胎植入前遗传学筛查应用于胚胎染色体数目异常（非整倍体）检测，以期改善体外受精-胚胎移植的妊娠结局。新方法、新技术不断出现并应用于胚胎植入前遗传学筛查中，如囊胚期活检、比较基因组杂交技术、微阵列技术、第二代测序技术等，显著增加了诊断准确性，减少误诊风险。同时，胚胎植入前遗传学筛查的广泛应用也面临许多挑战。综述该领域的应用进展和面临的挑战。
수착보조생식기술화유전학분석기술적발전，배태식입전유전학사사응용우배태염색체수목이상（비정배체）검측，이기개선체외수정-배태이식적임신결국。신방법、신기술불단출현병응용우배태식입전유전학사사중，여낭배기활검、비교기인조잡교기술、미진렬기술、제이대측서기술등，현저증가료진단준학성，감소오진풍험。동시，배태식입전유전학사사적엄범응용야면림허다도전。종술해영역적응용진전화면림적도전。
With the development of assisted reproductive technology and genetic analysis technology, the preimplantation genetic screening (PGS) is used to detect the numerical chromosomal abnormalities (aneuploid) in embryos, so as to improve pregnancy outcomes of in vitro fertilization-embryo transfer (IVF-ET). New methods and technologies have been used in PGS, such as blastocyst stage biopsy, comparative genomic hybridization, microarrays and next generation sequencing, which increase the diagnose accuracy and decrease the risk of misdiagnosis. At the same time, PGS is also facing many challenges. The clinical application of PGS was reviewed in this article.