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目的探究快速产前诊断方法在高龄孕妇产前染色体异常疾病诊断中的应用。方法本研究选取2011年1月-2014年7月于该院进行产前诊断的孕妇1 035例,进行染色体核型分析,并在羊水培养后行FISH技术检测。按年龄分为3组,35~37岁组、38~40岁组,>41岁组,比较3组妊娠者染色体异常率、核型分析结果、FISH检测结果。结果 3组妊娠者染色体异常率分别为0.55%、2.05%、4.82%,随着妊娠者年龄增加,染色体异常率明显增加,差异有统计学意义(P<0.05);核型分析显示,在1 035例高龄妊娠者中,共检出染色体异常者25例,异常率为2.41%,其中,21-三体综合征9例,13-三体综合征3例,18-三体综合征6例,X单体综合征7例,FISH检测与核型分析结果符合度为100%。结论快速产前诊断方法在高龄产妇产前染色体异常疾病诊断中具有重要临床意义,值得推广使用。
Objective To investigate the application of rapid prenatal diagnosis in diagnosis of prenatal chromosome abnormalities in elderly pregnant women. Methods In this study, 1 035 pregnant women who had prenatal diagnosis from January 2011 to July 2014 were enrolled in this study. Their karyotypes were analyzed and detected by FISH after amniotic fluid culture. The patients were divided into 3 groups according to their age, 35-37 years old group, 38-40 years old group and> 41 years old group. The chromosomal aberration rate, karyotype analysis results and FISH test results were compared between the three groups. Results The chromosomal abnormalities in the three groups were 0.55%, 2.05% and 4.82%, respectively. With the increase of the age of the pregnant women, the rate of chromosomal abnormalities increased significantly (P <0.05). The karyotype analysis showed that in 1 Totally 25 cases of chromosomal abnormalities were detected in 035 elderly pregnant women with an abnormality rate of 2.41%, including 21 cases of trisomy 21, 3 cases of trisomy 13 and 6 cases of trisomy 18 , X monomer syndrome in 7 cases, FISH detection and karyotype analysis of the results of 100%. Conclusion Rapid prenatal diagnosis in the diagnosis of prenatal maternal genital abnormalities has important clinical significance, it is worth promoting the use of.