2074例羊水染色体核型分析及其产前诊断的意义探讨  

Analysis of Karyotype of 2074 Cases of Amniotic Fluid and its Significance in Prenatal Diagnosis

作　　者：黄璇[1] HUANG Xuan(Beihai Maternal and Child Health Hospital,Beihai Prenatal Diagnosis Center,Beihai 536000,China)

机构地区：[1]北海市妇幼保健院,北海市产前诊断分中心,广西北海536000

出　　处：《中国医药指南》2020年第21期81-82,共2页Guide of China Medicine

摘　　要：目的选取2074例孕妇羊水染色体核型结果进行分析,探讨胎儿染色体异常的类型和异常率,评价有产前诊断指征的高危孕妇有针对性的进行羊水染色体核型检测,可以提高检测率。方法对2015年1月至2018年12月在我院产前诊断分中心进行羊膜腔穿刺术,采用羊水细胞培养的检测方法,利用羊水染色体核型分析方法进行确诊。结果成功培养羊水细胞2074例,检出染色体异常核型98例,异常率4.73%;其中检出21-三体41例,占异常核型41.84%,发生率最高。针对有无创DNA高风险、产筛高风险、高龄(孕妇年龄≥35岁)这三种产前诊断指征进行产前诊断检测出染色体异常核型占比分别是35.71%、27.55%和25.51%。结论对有产前诊断指征的高危孕妇有针对性的进行羊水染色体核型检测,可以提高检测率,对降低出生缺陷,提高出生人口素质有重大意义。Objective By analyzing the chromosome karyotype of the amniotic fluid of 2074 pregenant women, explore the type and abnormal rate of fetus chromosome abnormality. Evaluation and selection of high risk pregnancy with diagnostic indications for chromosome karyotype test, can improve the detection rate. Methods Amniocentesis was carried out in our prenatal diagnosing center during Jan. 2015 and Dce. 2018, the cells in the amniotic fluid are cultured, the chromosome karyotype was analysed. Results Amniotic fluid cell culture succeeded in 2074 cases, among them abnormal chromosome karyotype was detected in 98 cases, which accounted for 4.73%. 41 cases of trisomy 21 was found, accounting for 41.84% of abnormal karyotype, which was the highest. The prenatal diagnotic indications are high risk in noninvasive DNA test, high risk in prenatal screening, older mothers(≥35 years old). The chromosome karyotype abnormal rate are 35.71%, 27.55 and 25.51% respectively. Conclusion The evaluation and selection of high risk pregnancy with diagnostic indications for chromosome karyotype test can increase the detection rate, decrease the birth defect and improve the population quality at birth.

关 键 词：产前诊断 羊水 细胞培养 核型分析 

分 类 号：R714.55[医药卫生—妇产科学]