摘要
目的探讨产前超声和无创产前基因检测(NIPT)在胎儿染色体异常筛查中的应用价值。方法筛选2018年1月至2020年6月在我院孕中期产前检查中需行羊水细胞染色体核型分析的高危孕妇195例,均行羊水染色体核型分析、超声及NIPT检测。统计分析三种检测方法的检测结果;ROC曲线分析产前超声和NIPT检测对胎儿染色体异常的筛查价值。结果羊水染色体核型分析检出染色体异常胎儿18例,其中21-三体综合征10例、18-三体综合征5例、13-三体综合征2例、Turner综合征1例。产前超声检出可能存在染色体异常胎儿77例,其中胎儿结构异常13例、软指标异常60例、结构异常合并软指标异常4例。NIPT检出高风险24例,其中21-三体综合征高风险11例、18-三体综合征高风险9例、13-三体综合征高风险4例。ROC曲线分析显示:产前超声联合NIPT检测筛查胎儿染色体异常的AUC、敏感度、特异度分别为0.931、91.25%、90.33%,均高于单一检查(P<0.05)。结论产前超声联合NIPT检测可提高胎儿染色体异常筛查的准确性,对降低胎儿出生缺陷,提高人口素质有重要意义。
Objective:To investigate the application value of prenatal ultrasound and non-invasive prenatal testing(NIPT)in the screening of chromosomal abnormalities in fetuses.Methods:195 high-risk pregnant women who needed amniotic fluid cell karyotype analysis in the second trimester of pregnancy were selected from January 2018 to June 2020 in our hospital.The karyotype analysis,ultrasound and NIPT examination were performed.Statistical the test results;ROC curve analysis the value of prenatal ultrasound and NIPT in the screening of chromosomal abnormalities.Results:18 fetuses of chromosomal abnormalities were detected by karyotype analysis.Among them,there were 10 cases of 21-trisomy syndrome,5 cases of 18-trisomy syndrome,2 cases of 13-trisomy syndrome and 1 cases of Turner syndrome.77 fetuses of chromosomal abnormalities were detected by prenatal ultrasound.Among them,there were 13 cases of structure abnormal,60 cases of soft index abnormal,4 cases of structure abnormal and soft index abnormal.24 fetuses of high risk were detected by NIPT.Among them,11 cases of 21-trisomy syndrome,9 cases of 18-trisomy syndrome and 4 cases of 13-trisomy syndrome.ROC curve analysis showed that:The AUC,sensitivity and specificity of prenatal ultrasound combined with NIPT in the screening of chromosomal abnormalities were 0.931,91.25%and 90.33%,respectively,which were higher than those of single examination(P<0.05).Conclusion:Prenatal ultrasound combined with NIPT can improve the accuracy in the screening of chromosomal abnormalities in fetuses.It is of great significance to reduce birth defects and improve population quality.
作者
黄雅兰
HUANG Ya-lan(Department of Child Health Care,Shiyan Maternal and Child Health Hospital,Shiyan,Hubei,442000,China)
出处
《中国优生与遗传杂志》
2020年第12期1485-1488,共4页
Chinese Journal of Birth Health & Heredity
关键词
胎儿畸形
染色体异常
产前超声
无创产前基因检测
结构异常
软指标异常
Fetuses malformation
Chromosome abnormality
Prenatal ultrasound
Non-invasive prenatal testing
Structure abnormal
Soft index abnormal
