摘要
目的:比较传统染色体核型分析和染色体微阵列分析(CMA)在产前诊断中的应用价值。方法:选取因高龄、超声检查异常、不良孕产史、遗传病家族史、唐筛高风险及无创筛查结果异常接受产前诊断的453例孕妇为研究对象,所有孕妇均接受传统染色体核型分析和CMA,对两种检测方法的结果进行对比分析。结果:染色体核型分析检出染色体变异43例(9.49%),CMA检出染色体变异51例(11.26%),两种检测方法的检查结果符合率为82.86%,染色体变异检出率比较,差异无统计学意义(P>0.05)。CMA可更好地检出染色体微重复和微缺失,染色体核型分析则可更好地检出染色体平衡易位和嵌合体。单项诊断指征异常孕妇与两项及以上诊断指征异常孕妇的染色体核型分析或CMA的染色体变异检出率比较,差异均有统计学意义(P<0.05);CMA在两项及以上诊断指征异常孕妇中染色体变异检出率高于染色体核型分析(P<0.05),两种检查方法对单项诊断指征异常孕妇的染色体变异检出率比较,差异无统计学意义(P>0.05)。结论:传统染色体核型分析及CMA在孕妇染色体变异的检出方面效果相当,具有一定互补性,临床可将两种检查方法联合应用在产前诊断中,以提高染色体变异检出率。
Objective:To explore the application value of traditional karyotype analysis and chromosome microarray analysis(CMA)in prenatal diagnosis.Methods:A total of 453 pregnant women undergoing prenatal diagnosis in prenatal diagnosis center of the hospital due to abnormal results(advanced age,abnormal ultrasound,history of adverse pregnancy,family history of genetic diseases,high risk of Tang screening,non-invasive screening)were enrolled.All were tested for traditional karyotype analysis and CMA.The results of the two methods were compared and analyzed.Results:There were 43 cases(9.49%)and 51 cases(11.26%)with chromosome variation detected by karyotype analysis and CMA,respectively.The coincidence rate of the two methods was 82.86%.The difference in detection rate of chromosome variation between the two was not statistically significant(P>0.05).CMA could better detect chromosomal micro-duplication and micro-deletions,while karyotype analysis could better detect chromosomal balanced translocation and mosaicism.For pregnant women with abnormal single diagnostic indication and those with abnormal two or more diagnostic indications,differences in detection rate of chromosome variation between karyotype analysis or CMA were statistically significant(P<0.05).For pregnant women with abnormal two or more diagnostic indications,detection rate of chromosome variation by CMA was significantly higher than that by karyotype analysis(P<0.05).For pregnant women with abnormal single diagnostic indication,there was no significant difference in detection rate of chromosome variation between the two methods(P>0.05).Conclusion:The detection effect of traditional karyotype analysis and CMA is comparable for chromosome variation in pregnant women,and the two methods are complementary.Clinically,they can be combined in prenatal diagnosis to increase detection rate of chromosome variation.
作者
张金花
余珍
王丽霞
李妤
ZHANG Jin-hua;YU Zhen;WANG Li-xia;LI Yu(Prenatal Diagnosis Center,Urumqi Maternal and Child Health Hospital,Urumqi 833000,Xinjiang,China)
出处
《川北医学院学报》
CAS
2021年第10期1286-1289,共4页
Journal of North Sichuan Medical College
基金
新疆维吾尔自治区乌鲁木齐市卫生健康委员会基金(201925)。
