11460例羊水染色体核型分析在产前诊断中的应用价值分析  

Analysis of the application value of amniotic fluid chromosomal karyotyping in prenatal diagnosis with 11460 cases

作　　者：刘奕平 周艳彬 陈晓芳 LIU Yiping;ZHOU Yanbin;CHEN Xiaofang(Jining Maternal and Child Health Family Planning Service Center,Jining,Shandong 272100,China)

机构地区：[1]济宁市妇幼保健计划生育服务中心,山东济宁272100

出　　处：《中国优生与遗传杂志》2024年第8期1718-1721,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨不同产前诊断指征下胎儿羊水染色体核型的异常情况,以便为孕妇提供精准化、高效化、个性化的产前筛查及诊断方案。方法选取羊水培养成功的11460例孕妇,分析各高危因素下胎儿羊水染色体的异常情况。结果11460例羊水样本中,检出染色体异常735例,异常检出率6.41%(735/11460);其中染色体数目异常533例,占72.52%(533/735);结构异常202例,占27.48%(202/735)。以无创产前筛查(NIPT)高风险为产前诊断指征的胎儿染色体异常检出率最高,达47.45%(260/548),明显高于血清学筛查高风险、高龄、超声异常等产前诊断指征(P<0.05);年龄≥40岁的高龄孕妇,胎儿染色体异常发生率高于35~39岁的高龄孕妇(P<0.05)。结论NIPT作为一种高效率的产前筛查技术,可应用于普通孕妇的产前筛查。但NIPT高风险、胎儿超声异常、不良孕史、≥40岁的高龄孕妇,建议进行介入性产前诊断,并进行染色体微阵列分析。Objective Exploring abnormalities in fetal amniotic fluid chromosomes across various prenatal diagnosis indications to provide a precise,efficient and personalized basis for selecting prenatal screening and diagnostic strategies.Methods 11460 pregnant women with successful amniotic fluid cultures were selected,and the abnormalities of fetal amniotic fluid chromosomes were analyzed for various high-risk factors.Results Out of 11460 amniotic fluid samples,chromosomal abnormalities were found in 735 cases,yielding a detection rate of 6.41%(735/11460).Among these cases,numerical chromosomal abnormalities accounted for 72.52%(533/735).Structural abnormalities were observed in 202 cases,representing 27.48%(202/735).Those identified as high-risk by NIPT had the highest rate of abnormal findings,at 47.45%(260/548),markedly higher than those found through high-risk Down’s screening,advanced maternal age,and abnormal ultrasound findings among other prenatal diagnostic criteria(P<0.05);and the rate of fetal chromosomal abnormalities in the pregnant women with advanced age of≥40 years was higher than that in the pregnant women with advanced age of 35-39 years(P<0.05).Conclusion As a highly effective prenatal screening technique,NIPT screening can be applied tothe prenatal screening of general pregnant women.However,interventional prenatal diagnosis with chromosome microarray analysis is recommended for high-risk NIPT screening,fetal ultrasound abnormalities,adverse pregnancy history,and older pregnant women≥40 years of age.

关 键 词：出生缺陷 羊水染色体异常 高龄孕妇 无创产前筛查 

分 类 号：R714.5[医药卫生—妇产科学]