摘要
目的本研究对410例羊水标本同时行传统染色体核型分析及CMA检测的结果进行对比分析,探讨CMA在产前诊断中应用的优势与不足及CMA结果的解读和咨询难点。方法 2017年9月~2018年9月,共410例孕妇在怀化市产前诊断中心进行产前诊断,同时行传统染色体核型分析及CMA检测,对两种检测方法结果进行比对分析。结果本研究410例标本中传统染色体核型分析检出的24例染色体非整倍体异常及5例胎儿染色体不平衡变异,CMA均能检出,在传统染色体核型分析正常的病例中CMA检测出了6例杂合性缺失、48例临床意义不明的拷贝数变异55个(检出率13.4%(55/410)),7例致病性异常,疾病检出率提高了1.7%,结论与传统染色体核型分析比较,CMA技术不仅能检测出非整倍体及不平衡染色体变异,且具有更高的分辨率,能检测具有临床意义的拷贝数变异,CMA技术在产前诊断中的作用将会更加重要。
Objective:To compare and analyze the results of conventional chromosome karyotype analysis and CMA detection in 410 cases of prenatal diagnosis,and to discuss the advantages and disadvantages of CMA in prenatal diagnosis and the interpretation and consultation difficulties of CMA results.Methods:From September 2017 to September 2018,410 pregnant women were diagnosed in Huaihua Prenatal Diagnostic Center.The results of traditional chromosome karyotype analysis and CMA test were compared and analyzed.Results:24 cases of chromosomal aneuploidy and 5 cases of fetus were detected by traditional chromosome karyotype analysis in 410 cases in this study.Chromosomal imbalance and CMA could be detected in infants.CMA also detected 6 heterozygosity deletions and 55 copies with unknown clinical significance(detection rate was 13.4%(55 / 410),in 48 cases with normal chromosomal karyotype analysis).The diagnostic rate of the disease was increased by 1.7%.Conclusion:Compared with the traditional karyotype analysis,CMA can not only detect aneuploidy and unbalanced chromosome variation,but also have higher resolution.With the ability to detect gene copy number variations of clinical significance,CMA will play an increasingly important role in prenatal diagnosis.
作者
易凤梅
冯宗辉
黄乙亿
谌燕
李敏
姜淑敏
张弦
YI Feng-mei;FENG Zong-hui;HUANG Yi-yi;CHEN Yan;LI Min;JIANG Shu-min;ZHANG Xian(Huaihua Prenatal diagnosis Center,Huaihua Maternal and Child Case Health Hospital,Huaihua,Hunan,418000)
出处
《中国优生与遗传杂志》
2020年第1期25-28,共4页
Chinese Journal of Birth Health & Heredity
基金
胎儿结构异常与基因组的结构、功能相关性研究(编号:B2017179).
