摘要
目的探究血清学筛查、超声与无创基因检测在孕早期胎儿畸形诊断中的应用。方法选取2018年1月~2019年12月间于我院接受胎儿染色体异常筛查的919例单胎孕妇为研究对象。所有对象根据产前筛查项目随机分组,分为血清学检查组、超声组与无创基因检测组及三项联合组,以羊膜腔穿刺核型分析为金标准,分析胎儿染色体异常情况,针对筛查阴性者则给予随访跟踪观察妊娠结局。结果1203例单胎孕妇中经常规产前筛查出101例高危产妇,经羊水穿刺及妊娠结果确诊为染色体异常21例;血清学筛查305例,筛查阳性39例,确诊2例,检出率为66.67%(2/3);超声检查301例,筛查阳性45例,确诊3例,检出率为75.00%(3/4);无创基因检测筛查12例,筛查阳性8例,确诊6例,检出率为100.00%(6/6);联合筛查301例,筛查阳性9例,确诊8例,检出率为100.00%(8/8);检查结果显示,联合检测较单独血清学筛查、超声检查的特异度、灵敏度、准确率、阳性预测值、阴性预测值更高(P<0.05),较无创基因检测的特异度及准确率更高(P<0.05)。结论血清水平、超声与无创基因检测诊断染色体异常中,无创基因检测灵敏度最高,且联合检测较单独检测对临床筛查胎儿畸形具有临床诊断意义。
Objective:To explore the application of serological screening,ultrasound and non-invasive genetic testing in the diagnosis of fetal malformations in the first trimester.Methods:919 singleton pregnant women who were screened for fetal chromosomal abnormalities in our hospital from January 2018 to December 2019 were selected as the research subjects.All subjects were randomly grouped according to the prenatal screening items,and were divided into serological examination group,ultrasound group and non-invasive genetic testing group and three-combination group.Amniocentesis karyotype analysis was used as the gold standard to analyze fetal chromosomal abnormalities.Those who were with negative screening results were given follow-up to observe the pregnancy outcomes.Results:Among 1203 singleton pregnant women,101 cases of high-risk puerperae were detected by routine prenatal screening,and 21 cases were diagnosed as chromosomal abnormalities by amniocentesis and pregnancy results.Among 305 cases with serological screening,39 cases were positive and 2 cases were confirmed,with a detection rate of 66.67%(2/3).Among the 301 cases with ultrasound examination,45 cases were positive and 3 cases were confirmed,with a detection rate of 75.00%(3/4).Among 12 cases screened by non-invasive genetic testing,8 cases were positive and 6 cases were confirmed,with a detection rate of 100.00%(6/6).Among 301 cases with combined screening,9 cases were positive and 8 cases were confirmed,with a detection rate of 100.00%(8/8).The examination results showed that the specificity,sensitivity,accuracy rate,positive predictive value and negative predictive value of combined detection were higher than those of the single serological screening or ultrasound(P<0.05),and the specificity and accuracy rate were higher than those of non-invasive genetic testing(P<0.05).Conclusion:Among the diagnosis of chromosomal abnormalities by serum levels,ultrasound and non-invasive genetic testing,non-invasive genetic testing has the highest sensitivity,and combined detection has clinical diagnostic significance for clinical screening of fetal malformations.
作者
陈钟玉
井水
黄蓓蓓
葛娟娟
CHEN Zhong-yu;JING Shui;HUANG Bei-bei;GE Juan-juan(Department of Gynecology;Department of Ultrasound,Suzhou Hospital of Anhui Medical University(Suzhou Municipal Hospital of Anhui Province),Suzhou 234000,Anhui Province,China)
出处
《中国优生与遗传杂志》
2020年第12期1501-1503,1510,共4页
Chinese Journal of Birth Health & Heredity
基金
宿州市立医院院级科研基金项目(2018A009)。
关键词
血清学筛查
超声
无创基因检测
孕早期
染色体异常
胎儿畸形
诊断价值
分析
Serological screening
Ultrasound
Non-invasive genetic testing
First trimester
Chromosomal abnormalities
Fetal malformations
Diagnostic value
Analysis
