NIPT技术介入临床检测后产前筛查与诊断唐氏儿的临床资料变化分析

发布时间：2018-11-04 15:20

【摘要】：目的分析Noninvasive Prenatal Test(NIPT)技术是否可以替代所有血清学唐氏综合征的筛查以及其使用前景。方法比较首都医科大学附属北京妇产医院NIPT技术介入临床检测前后产前筛查与诊断的有关唐氏儿临床资料数据的变化。结果(2011年NIPT技术开始出现在部分孕妇中)2009年羊水穿刺总数2 262例,21-三体16例,诊断率0.7%,2010年羊水穿刺总数2 396例,21-三体18例,诊断率0.8%,2013年羊水穿刺总数2 179例,21-三体76例,诊断率3.5%,有62例外来NIPT结果为21-三体高风险的孕妇,经羊水穿刺核型分析结果为21-三体的是59例。2014年羊水穿刺总数2549例,21-三体69例,诊断率2.7%,有47例外来NIPT结果为21-三体的高风险者,经核型分析诊断后结果为21-三体者45例。结论 NIPT技术将大幅度改变羊水穿刺比例数,成为近乎诊断水平的唐氏儿筛查技术。
[Abstract]:Objective to analyze whether Noninvasive Prenatal Test (NIPT) can replace the screening of all serological Down syndrome and its application prospect. Methods the clinical data of prenatal screening and diagnosis before and after NIPT intervention in Beijing Obstetrics and Gynecology Hospital affiliated to Capital Medical University were compared. Results in 2009, the total number of amniocentesis was 2 262 cases, 21 trisomy was 16 cases, the diagnostic rate was 0. 7%. In 2010, the total number of amniocentesis was 2 396 cases, 21 trisomy was 18 cases, the diagnostic rate was 0. 8%. In 2013, the total number of amniocentesis was 2 179 cases, 21 trisomy 76 cases, the diagnostic rate was 3. 5%, there were 62 cases of pregnant women with high risk of 21-trisomy according to NIPT. The karyotype analysis of transamniocentesis was performed in 59 cases with 21 trisomy. In 2014, the total number of amniocentesis was 2549 cases and 21 trisomy 69 cases. The diagnostic rate was 2. 7%. There were 47 cases with high risk of 21 trisomy according to NIPT. The results of karyotype analysis were 21-trisomy in 45 cases. Conclusion NIPT technique will greatly change the proportion of amniocentesis and become the screening technique for Down's infants at near diagnostic level.
【作者单位】：首都医科大学附属北京妇产医院;
【分类号】：R714.5

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