摘要
目的分析产前无创DNA检测在胎儿唐氏综合征(DS)产前诊断中的应用价值。方法回顾性分析2017年5月至2019年5月本院21036例行产前DS诊断孕妇的临床资料,行血清学检测者19831例,行产前无创DNA检测者1205例,以染色体核型分析结果为金标准,比较产前无创DNA检测与传统血清学检测在DS产前诊断中的应用价值。结果血清学检查诊断DS的灵敏度、特异度、准确度、阳性预测值分别为71.43%、95.30%、95.30%、0.53%。无创DNA检测诊断DS的灵敏度、特异度、准确度、阳性预测值分别为100.00%、99.58%、99.59%、58.33%。产前无创DNA检测诊断DS的特异度、准确度、阳性预测值大于血清学检查(P<0.05)。2组灵敏度比较差异无统计学意义(P>0.05)。结论产前无创DNA检测与传统血清学检查对胎儿DS产前诊断均有良好的灵敏度,产前无创DNA检测特异度、准确度、阳性预测值更高,更具优势。
Objective To analyze the value of noninvasive prenatal DNA detection in prenatal diagnosis of Down syndrome(DS).Methods The clinical data of 21036 pregnant women diagnosed by prenatal DS in our hospital from May 2017 to May 2019 were analyzed retrospectively.There were 19831 serologic examinations and 1205 noninvasive prenatal DNA examinations.The application value of prenatal noninvasive DNA testing and traditional serological testing in prenatal diagnosis of DS was compared according to the results of chromosome karyotype analysis.Value.Results The sensitivity,specificity,accuracy and positive predictive value of serological examination in the diagnosis of DS were 71.43%,95.30%,95.30%and 0.53%,respectively.The sensitivity,specificity,accuracy and positive predictive value of non-invasive DNA detection in the diagnosis of DS were 100.00%,99.58%,99.59%and 58.33%,respectively.The specificity,accuracy and positive predictive value of prenatal non-invasive DNA test in diagnosis of DS were higher than those of serological test(P<0.05).There was no significant difference in sensitivity between the two groups(P>0.05).Conclusion Prenatal non-invasive DNA detection and traditional serological examination have good sensitivity for prenatal diagnosis of fetal DS.Prenatal non-invasive DNA detection has higher specificity,accuracy and positive predictive value,and has more advantages.
作者
刘英
LIU Ying(Shangrao Maternal and Child Health Hospital,Shangrao 334000,China)
出处
《国外医学（医学地理分册）》
CAS
2019年第4期362-364,共3页
Foreign Medical Sciences：Section of Medgeography
关键词
唐氏综合征
产前诊断
无创DNA检测
血清学检查
Down's syndrome
prenatal diagnosis
noninvasive DNA testing
serological examination
作者简介
刘英(1986-),女(汉族),大学本科,主治医师.研究方向:产前诊断.
