早孕期唐氏综合征产前筛查结果的回顾性分析

目的:分析并评价早孕期唐氏综合征筛查系统在我院开展情况,为提高实验室产前筛查质量及产前筛查诊断准确率提供指导依据.方法:选择2017年1月~2019年3月在我院产科门诊接受早孕期唐氏综合征筛查的7547例单胎妊娠孕妇作为研究对象,在对孕妇进行充分知情告知后进行超声NT检测,同时抽取孕妇外周血,检测相生化关标记物,使用风险评估软件评估胎儿罹患21-三体、18-三体综合征的概率.对筛查结果高风险的孕妇即刻进行电话召回进行产前诊断.结果:在7547例接受早孕期唐氏综合征筛查的孕妇中,筛查结果高风险共计121例(阳性率1.60%),自愿接受羊水或脐血穿刺产前诊断检查70例,发现染色体核型异常6例;未接受产前诊断检查的51例孕妇中发现其他异常4例.结论:早孕期唐氏综合征筛查有利于早期诊断胎儿染色体异常,可使产前诊断时机推前,对防止出生缺陷,提高人口素质具有重要临床意义.

Retrospective analysis of first-trimester screening

Objective:To evaluate the clinical application value of the first-trimester screening in our hospital and provide the basis for improving the quality of prenatal screening and prenatal diagnosis.Methods:7547 pregnant women with singleton pregnancy who received first-trimester screening were selected as subjects from January 2017 to March 2019.After the informed notification of pregnant women,ultrasound NT was performed.The peripheral blood of pregnant women was extracted simultaneously,the biochemical markers were detect,and the probability of fetal 21-trisomy and 18-trisomy syndrome was assessed using risk assessment software.Pregnant women with high risk of screening results were immediately called for prenatal diagnosis.Results:Among 7547 pregnant women who received first-trimester screening,a total of 121 pregnant women were screened with a high risk(positive rate 1.60%),and 70 pregnant women who were voluntarily received amniocentesis or cord blood puncture prenatal diagnosis.There were 6 cases of abnormal type;4 cases of other abnormalities were found among 51 pregnant women who did not receive prenatal diagnosis.Conclusion:First-trimester screening is conducive to early diagnosis of fetal chromosomal abnormalities,which can make the prenatal diagnosis time advance,and has important clinical significance for preventing birth defects and improving population quality.