论文部分内容阅读
目的评估杭州市西湖区2008年至2014年中孕期血清学产前筛查唐氏综合征(Down′s syndrome,DS)、18三体综合征和开放性神经管畸形(Open neural tube defects,ONTD)的筛查效果。方法回顾性分析2007年10月至2014年9月,杭州市西湖区妇幼保健院填报的产前筛查随访报表,在杭州市西湖区妇幼保健院等15家产前筛查采血点,自愿接受产前筛查的48 739例中孕期妇女血清学产前筛查筛查结果和染色体核型分析情况。结果产前筛查率逐年提高,由2008年的79.46%上升到2014年88.45%;羊水穿刺率平均为37.01%。筛查出DS高风险1 685例,18三体综合征高风险69例,ONTD高风险151例,它们的高风险阳性率分别为3.46%、0.14%和0.31%。在高风险孕妇中确诊DS胎儿16例、18三体综合征8例、ONTD 8例,它们的产前筛查灵敏度分别为61.54%(16/26)、80.00%(8/10)、66.67%(8/12);特异度分别为96.39%、99.87%和99.69%;在随访的低风险孕妇中确诊新生儿DS 10例、18三体综合征2例、ONTD 4例,筛查结果为高风险的孕妇,其检出DS等缺陷胎儿的机率高于低风险者,两者差异有统计学意义(P<0.001)。结论杭州市西湖区血清学DS产前筛查效果明显,是降低本地区缺陷胎儿出生的有效措施,但门诊随访中应注意筛查结果为高风险的转诊工作。
Objective To evaluate the serological prenatal screening of Down’s syndrome (DS), trisomy 18 and open neural tube defects (ONTD) in mid-pregnancy between 2008 and 2014 in Xihu District, Hangzhou. ) Screening results. Methods A retrospective analysis was conducted from October 2007 to September 2014 in Hangzhou West Lake District Maternal and Child Health Care Hospital to report the prenatal screening follow-up report in Hangzhou Xihu District Maternal and Child Health Hospital, 15 prenatal screening blood collection sites, voluntarily accepted Prenatal screening 48 739 cases of middle-aged women serological prenatal screening screening results and chromosome karyotype analysis. Results The prenatal screening rate increased year by year, from 79.46% in 2008 to 88.45% in 2014; the average amniotic puncture rate was 37.01%. There were 1 685 cases of DS high risk, 69 cases of trisomy 18 and 151 cases of high ONTD risk. The high-risk positive rates were 3.46%, 0.14% and 0.31% respectively. Among the high-risk pregnant women, 16 were diagnosed with DS fetuses, 8 were Trisomy 8 and 8 were ONTD. The prenatal screening sensitivities were 61.54% (16/26), 80.00% (8/10), 66.67% (8/12). The specificities were 96.39%, 99.87% and 99.69% respectively. Among the low-risk pregnant women who were followed up, 10 cases were diagnosed as neonatal DS, 2 cases with trisomy 18 and 4 cases with ONTD. The screening result was high The risk of pregnant women, the detection of DS and other defective fetus than those with low risk, the difference was statistically significant (P <0.001). Conclusion Prenatal screening of serological DS in Xihu District of Hangzhou City is significant. It is an effective measure to reduce the birth of defective fetuses in this area. However, screening should be considered as a high-risk referral during outpatient follow-up.