摘要
目的探讨无创产前基因检测(NIPT)在血清学筛查风险值异常及高龄孕妇中的临床应用价值及意义。方法选取血清学筛查风险值异常、高龄的单胎并选择进一步检查的孕妇作为研究对象,将选择先行NIPT检测、结果异常者再行羊水穿刺进行胎儿染色体核型分析的孕妇作为NIPT组,将直接选择羊水穿刺进行胎儿核型分析的孕妇作为羊水穿刺组;收集2组孕妇产前检查的数据,比较2组孕妇的临界风险、21-三体高风险、18-三体高风险及高龄孕妇的情况及胎儿染色体异常检出率。结果 NIPT组共纳入1 198例,包括血清学筛查临界风险546例、21-三体高风险160例、18-三体高风险5例及高龄孕妇487例,17例NIPT提示异常,分别为7例、1例、0例和9例,后经羊水穿刺诊断胎儿染色体异常的分别为3例、1例、0例及6例,检出率分别是0.55%、0.63%、0%及1.23%;羊水穿刺组共纳入1 253例,包括血清学筛查临界风险105例、21-三体高风险515例、18-三体高风险65例及高龄孕妇568例,其中33例核型异常,分别诊断出胎儿染色体异常2例、15例、4例和12例,检出率分别为1.9%、2.91%、6.15%和2.11%;经χ^2检验,NIPT组与羊水穿刺组孕妇在血清学筛查临界风险、21-三体高风险、18-三体高风险及高龄孕妇中的染色体异常检出率比较,差异无统计学意义(P>0.05);经随访NIPT低风险孕妇中未发现假阴性者。结论 NIPT检测可作为产前诊断技术有效的辅助筛查方法,并且能够有效降低染色体异常胎儿出生的风险。
Objective To explore the clinical application value and significance of Non-invasive prenatal testing( NIPT) in pregnant women with abnormality in serum screening and pregnant women with advanced age. Methods The pregnant women with abnormality in serological screening or advanced age with one pregnancy were selected as study subjects. The pregnant women with abnormal results in NIPT testing first and then subjected to amniocentesis for fetal karyotype analysis were selected as the NIPT group,while the pregnant women who directly accepted amniocentesis for fetal karyotype analysis were selected as the amniocentesis group. The prenatal examination data of the two groups were collected. The critical risk,the high risk for trisomy 21( T21),the high risk of trisomy 18( T18),and the detection rates of fetal chromosomal abnormalities in advanced pregnant women were compared. Results A total of 1 198 cases were included in NIPT group,including 546 cases of critical risk in serological screening,160 cases of high risk of T21,5 cases of high risk of T18,and487 cases of pregnant women with advanced-age. Seventeen cases in NIPT group had abnormalities,including 7 cases with critical risk of serological screening,1 case with the risk for T21,0 case with the risk for T18,and 9 cases for advanced age,respectively. These cases were further diagnosed by amniotic fluid,and verified,including 3 cases,1 case,0 case and 6 cases,respectively. The detection rates were 0. 55%,0. 63%,0%,and 1. 23%,respectively. In addition,a total of 1 253 cases were recruited in amniocentesis group, including 105 cases of critical risk for serological screening,515 cases of high risk of T21,65 cases of high risk of T18,and 568 cases for advanced age. Among which,33 cases had abnormal karyotypes,later diagnosed as 2 cases with critical risk of serological screening,15 cases with the risk for T21,4 cases with the risk for T18,and 12 cases for advanced age,respectively. The detection rates were 1. 9%,2. 91%,6. 15%, and 2. 11%,respectively. The χ^2 test a
作者
景亚玲
刘晓芳
陈俭辉
赵连芳
赵咏梅
JING Yaling;LIU Xiaofang;CHEN Jianhui;ZHAO Lianfang;ZHAO Yongmei(Laboratory of Prenatal Diagnosis Center,Suining Central Hospital,Suining 629000,Sichuan,China;Department of Obstetrics,Suining Central Hospital,Suining 629000,Sichuan,China)
出处
《贵州医科大学学报》
CAS
2021年第2期204-209,共6页
Journal of Guizhou Medical University
基金
国家卫生计生委医药卫生科技项目(w2016cwsc03)。
关键词
产前诊断
血清学筛查
无创产前基因检测
羊水穿刺
高龄孕妇
产前筛查
prenatal diagnosis
serological screening
non-invasive prenatal testing(NIPT)
amniocentesis
pregnant women with advanced age
prenatal screening
