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目的分析莆田市孕妇孕中期产前筛查及产前诊断情况。方法对2015年8月~2016年7月莆田市地区参加产前筛查的单胎孕妇纳入研究,产前血清学三联筛查检测孕周为14-20+6w,无创产前DNA检测孕周为12-26+6w,对筛查高风险者及其他具有产前诊断指征的孕妇进行胎儿染色体核型分析并随访至胎儿出生。结果参与产前血清学三联筛查孕妇共27 882例,筛查高风险1101例,总阳性率为3.95%;参与无创产前DNA检测共1010例,筛查高风险10例,其中21/18/13高风险6例,4号染色体q12-q13.1重复4.6Mb 1例,性染色体异常3例,总阳性率0.99%,其中7例知情同意行介入性产前诊断,3例染色体核型分析结果为47,XN,+21,1例为47,XN,+18,余3例染色体核型分析结果均为正常;经遗传咨询后行介入性产前诊断孕妇共661例,胎儿染色体核型异常共45例,异常检出率为6.81%,占总筛查人数0.16%,无创产前DNA检测高风险与血清学三联筛查高风险染色体异常检测率比较差异有统计学意义。结论孕中期行产前筛查对莆田地区预测胎儿异常、降低缺陷儿的出生、提高人口素质发挥重要作用,但产前筛查存在一定的局限性,需要与有创性产前诊断相辅相成。
Objective To analyze the prenatal screening and prenatal diagnosis in the second trimester of pregnant women in Putian City. Methods A singleton pregnant women who participated in prenatal screening in Putian City from August 2015 to July 2016 were enrolled in the study. Prenatal serology triple screening was used to detect gestational age 14-20 + 6 weeks and noninvasive prenatal DNA was detected in gestational weeks For 12-26 + 6w, fetal chromosomal karyotyping of fetuses at risk of screening and other gestational age with prenatal diagnosis and follow-up to fetal birth. Results A total of 27,882 pregnant women participated in prenatal serological triple screening. The screening rate was 1101 cases with a total positive rate of 3.95%. A total of 1010 cases were involved in noninvasive prenatal DNA testing and 10 cases were screened for high risk, of which 21/18 / 13 high risk in 6 cases, chromosome 4 q12-q13.1 repeated 4.6Mb in 1 case, 3 cases of chromosomal abnormalities, the total positive rate of 0.99%, of which 7 informed consent interventional prenatal diagnosis, 3 cases of karyotype The results of the analysis were 47, XN, + 21, 1 case was 47, XN, + 18, and the results of 3 karyotype analysis were normal. After genetic counseling, 661 pregnant women were diagnosed as interventional prenatal diagnosis, fetal chromosomal nuclear There were 45 cases of anomalous abnormalities, the abnormal detection rate was 6.81%, accounting for 0.16% of the total number of screening, high-risk non-invasive prenatal DNA testing and serological triple screening of high-risk chromosomal abnormalities were significantly different detection rates were statistically significant. Conclusion The prenatal screening in the second trimester plays an important role in predicting fetal abnormalities, reducing birth defects and improving population quality in Putian area. However, prenatal screening has some limitations and needs to be combined with invasive prenatal diagnosis.