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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。
Objective To analyze whether Noninvasive Prenatal Test (NIPT) can replace all serological Down’s syndrome screening and its prospects. Methods The changes of clinical data related to prenatal screening and diagnosis of Down’s syndrome before and after the interventional clinical test by NIPT of Beijing Maternity and Adolescent Hospital, Capital Medical University were compared. Results (In 2011, NIPT began to appear in some pregnant women) The total number of amniocentesis was 2 262 in 2009, 16 in 21 trisomy, the diagnosis rate was 0.7%, the total number of amniocentesis was 2 396 in 2010 and 18 in 21 trisomy, The diagnostic rate was 0.8%. The total number of amniocentesis was 2,179 and 21-trisomy in 2013, with a diagnosis rate of 3.5%. There were 62 cases of extranodal NIPT in 21- trisomy high-risk pregnant women. The result of amniotic puncture karyotype analysis was 21 - trisomy is 59 cases. In 2014, there were 2549 cases of amniocentesis and 69 cases of 21-trisomy with a diagnostic rate of 2.7%. There were 47 cases with high risk of extrinsic NIPT as 21-trisomy. The result of karyotype analysis was 21-trisomy 45 example. Conclusion The NIPT technique will significantly change the amniotic fluid puncture ratio and become a near-diagnostic Down’s technique.