2008-2014年杭州市西湖区中孕期母血清唐氏综合征产前筛查结果分析  

Serum Down′s prenatal screening for second trimester in xihu district in Hangzhou from 2008 to 2014

作　　者：魏凌秀 张芹 陈益明 张闻 

机构地区：[1]杭州市西湖区妇幼保健院检验科 [2]杭州市西湖区妇幼保健院妇保科 [3]杭州市妇产科医院(杭州市妇幼保健院)产前诊断(筛查)中心,311100

出　　处：《中国优生与遗传杂志》2017年第7期62-63,65,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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 prenatal screening efficiency about serum Down＇s syndrome （DS） , 18 trisomy syndrome and Open neural tube defects （ONTD） for seconc trimester in xihu district in Hangzhou from 2008 to 2014. Methods： The retrospective method was used to analyze prenatal screening follow-up reports and fifteen prenatal screening drawing blood sites in xihu district including xihu maternal and child hospital, and serum prenatal screening results and chromosome typing of 48739 volantary second trimester pregnant women from October, 2007 to September, 2014. Results： The prenatal screening rate is increasing by year from 2008 （79.46%） to 2014 （88.45%） , another the amniotic fluid puncture rate is 37.01%. Of 48 739 cases, the high risky cases with 1685 DS, 69 18 trisomy syndrome, 151 ONTD, and their high risky positive rates were 3.46%, 0.14% anc 0.31% respectively. Among the high-risk pregnant women, 16 DS, 8 18 trisomy syndrome and 8 ONTD were diagnosed with high risk, and the prenatal screening sensitivity being with 61.54% （16/26） , 80.00% （8/10） and 66.67% （8/12） in turn and the specificity being with 96.39%, 99.87% and 99.69% respectively. 10 DS, 2 18 trisomy syndrome and 40NTD were diagnosed with high risk from the low risky pregnant women during the follow-up.The prenatal screenig results showed that the high risky pregnant women＇ s defective fetus than low risky pregnant womenf s. and they had significant difference （P〈0.001） . Conclusion： The prenatal screening of DS has obvious efficiency in xihu district in Hangzhou, and it is also an effective measure to decrease defective fetus birth in urban area..but the clinicians must pay attention to the referral work for the high risky pregnant women during outpatient follow-up.

关 键 词：产前筛查 妊娠中期 唐氏综合征 18三体综合征 开放性神经管畸形 

分 类 号：R714.5[医药卫生—妇产科学]