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目的评估杭州市余杭区2009~2012年中孕期二联法血清学产前筛查状况及筛查效果。方法回顾性分析2008年10月-2012年9月在杭州市余杭区妇幼保健院自愿接受产前筛查的44 566例中孕期妇女二联法血清学产前筛查筛查结果和染色体核型分析情况。结果高风险孕妇中确诊唐氏综合征(DS)胎儿9例,18三体综合征7例,开放性神经管畸形(ONTD)8例,在随访的低风险孕妇中确诊新生儿DS 6例,18三体综合征0例,ONTD 6例,产前筛查的检出率分别为60.00%(9/15)、100.00%(7/7)、57.14%(8/14);筛查结果为高风险的孕妇,其检出DS等缺陷胎儿的几率高于低风险者,两者差异有统计学意义(P<0.001)。结论血清学产前筛查工作取得进展,是降低异常胎儿出生的有效方式,但存在一些假阴性或假阳性病例,应注意筛查结果的解释工作。
Objective To evaluate the prenatal screening status and screening results of serodiagnosis in the second trimester of pregnancy in Yuhang District of Hangzhou from 2009 to 2012. Methods A retrospective analysis was conducted between 44 566 middle-pregnant women voluntarily receiving prenatal screening at the Maternal and Child Health Care Hospital of Yuhang District in Hangzhou from October 2008 to September 2012. The prenatal screening screening results and chromosomal karyotype Analyze the situation. Results Among 9 high-risk pregnant women, 9 cases of Down Syndrome (DS) fetus, 7 cases of Trisomy 18 and 8 cases of open neural tube defects (ONTD) were diagnosed in 6 low-risk pregnant women who were followed up. 18 cases of trisomy 18 and 6 cases of ONTD. The detection rates of prenatal screening were 60.00% (9/15), 100.00% (7/7) and 57.14% (8/14) respectively. The screening results were High-risk pregnant women had a higher risk of detecting defective fetuses such as DS than those with low risk (P <0.001). Conclusion The progress of serological prenatal screening is an effective way to reduce the abnormal fetus birth. However, there are some cases of false negative or false positive, so we should pay attention to the explanation of screening results.