酌情联合无创基因检测的产前筛查模式探讨

Contingent Prenatal Screening in Second Trimester:Using a Simple Two Serum Marker and Non-Invasive Prenatal Testing

目的:探讨血清学筛查后酌情联合无创基因检测的产筛模式在常见胎儿染色体非整体疾病筛查中的临床应用价值。方法:采用时间分辨荧光分析法检测5 577例15～20+6周妊娠妇女的甲胎蛋白和游离绒毛膜促性腺激素的浓度,利用风险评估软件综合妊娠妇女相关信息评定胎儿罹患染色体疾病的风险率。设定1/270为21-三体综合征高风险切割值,1/350为18-三体综合征高风险切割值,1/1 000为临界风险切割值。对高风险组妊娠妇女建议羊膜腔穿刺确诊胎儿染色体核型,同时提供无创基因检测相关信息;对临界风险组妊娠妇女建议行无创基因检测;对所有妊娠妇女进行妊娠结局追访。结果:孕中期二联血清学筛查的染色体疾病假阳性率为7. 33%,无创基因检测的接受率为47. 09%,酌情联合无创基因检测后假阳性率为2. 54%,与联合前相比下降(P <0. 05)。临界风险组中经联合无创基因检测发现2例21-三体综合征。结论:孕中期血清学筛查酌情联合无创基因检测的产前筛查模式,可以降低染色体非整倍体疾病的假阳性率,减少临界风险组的漏筛,为血清学筛查后的遗传咨询提供数据支持。

Objective ：To discuss the clinical application value of Contingent prenatal screening, which using a simple two serum marker and non-invasive prenatal testing （NIPT） for fetal chromosomal aneuploidy diseases. Methods ： Performed the second trimester serum screening on 5 577 cases. Set 1/270 is the high-risk cutoff value of 21-tribody syndrome, 1/350 is the high-risk cutoff value of 18-tribody syndrome, and 1/1 000 is the critical risk cutoff value. The diagnosis of fetal chromosomal karyotype and the information of NIPT was suggested for pregnant women with high-risk group;NIPT was performed for pregnant women with critical risk group ; the pregnancy outcome was followed by all pregnant women. Results ： The acceptance rate of NIPT was 47.09%. The contingent prenatal screening false positive rate of chromosomal diseases, was lower than that of serum screening （7.33% VS 2.54% ,P 〈 0.05）. Two cases of DS were found in the critical risk group. Conclusion：Contingent prenatal screening in second trimester using a simple two serum marker and NIPT, can reduce the false positive rate of chromosomal aneuploidy diseases,and reduce false-negative cases in the critical risk group, provide data support for genetic counseling.