不同时期NICS检测在平衡易位患者PGT治疗中的临床应用  

Application of NICS Testing at Different Stages in PGT Treatment of Patients with Reciprocal Translocation

作　　者：李明颖[1,2] 李敏瑶 晏家骢 田美 李永刚 LI Mingying;LI Minyao;YAN Jiacong;TIAN Mei;LI Yonggang(Dept.of Reproduction medicine,First People’s Hospital of Yunnan Province,Kunming Yunnan 650032;School of Life Sciences,Yunnan University,Kunming Yunnan 650500,China)

机构地区：[1]云南省第一人民医院生殖医学科,云南昆明650032 [2]云南大学生命科学学院,云南昆明650500

出　　处：《昆明医科大学学报》2023年第2期69-74,共6页Journal of Kunming Medical University

基　　金：国家自然科学基金资助项目(82060282);云南省生殖妇产疾病临床医学中心开放项目(2022LCZXKF-SZ11,2020LCZXKF-SZ04);云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目([202001AY070001-295,2019FE001(-297)],202101AY070001-260)。

摘　　要：目的评估不同时期NICS检测在平衡易位患者PGT治疗中应用的可行性。方法分析检测结果(包括检测成功和检测失败)和CNVs结果(包括正常和和异常)2个变量;根据样本类别,分成D3培养液(D3NICS)、D5培养液(D5 NICS)和整胚及活检细胞(胚胎/TE)组,对各组之间的检测失败率和CNVs结果分布进行比较。结果D3 NICS检测失败率和CNVs结果分布同胚胎/TE组相比,差异有统计学意义(P<0.001/P<0.01);D5 NICS组的检测失败率结果和CNVs结果分布同胚胎/TE组相比,差异无统计学意义(P>0.05)。结论相对于D3 NICS,D5 NICS在平衡易位患者胚胎的诊断应用上更有优势。作为一种无损检测手段,随着操作方法和测序技术的进步,有望替代传统活检技术用于平衡易位患者胚胎的临床诊断。Objective To study the application of NICS of different stages in the PGT treatment for patients with balanced translocation.Methods The parameters analyzed included testing results(tested successfully and rested failed)and CNVs results(normal and abnormal);the samples were divided into D3 NICS,D5 NICS,whole embryos and biopsied cells(embryo/TE)groups according to the samples types.The testing failure rate and CNVs results distribution were compared among the groups.Results There were significant differences between D3 NICS group and embryo/TE group on testing failure rate and CNVs results distribution(P<0.001/P<0.01),while no significant difference was shown in results between D5 NICS group and embryo/TE group(P>0.05).Conclusions Compared with D3 NICS,D5 NICS has more advantages in the application of balanced translocation embryos diagnosis.As a non-invasive test,D5 NICS is expected to replace the traditional biopsy technique in treatment of balanced translocation patients with the progress of manipulation methods and sequencing technology.

关 键 词：平衡易位 NICS PGT 

分 类 号：R169[医药卫生—公共卫生与预防医学]