武汉市汉阳区孕妇唐氏筛查4510例结果分析

Analysis on results of Down's syndrome screening among 4510 pregnant women in Hanyang district

目的:探讨孕中期母血唐氏筛查对胎儿染色体异常及神经管缺陷的临床价值。方法:对孕龄在14～20周的4 510例孕妇进行唐氏综合征筛查,对高危孕妇进行胎儿细胞染色体核型分析,并对神经管畸形高危的孕妇进行B超确诊。对所有筛查高危的孕妇追踪至胎儿出生。结果:①唐氏筛查共4 510例,筛查出高危孕妇235例,筛查阳性率5.21%;②235例高危孕妇中,孕妇年龄>35岁染色体异常检出率为3.11%;孕妇年龄<35岁的染色体异常检出率为9.46%;③235例高危孕妇中,69例进行产前诊断羊水穿刺,羊水穿刺率29.36%;④69例羊水穿刺的孕妇中,12例染色体异常,羊水穿刺异常率17.39%;⑤12例染色体异常中,21-三体占41.67%(5/12)。结论:唐氏综合征筛查对提高武汉市汉阳区出生人口素质,降低汉阳区的出生缺陷率起到了积极的作用。汉阳区唐氏筛查高危的孕产妇,进一步羊水穿刺率有待提高,产前筛查的后续工作的管理亟待加强,同时也要重视筛查低风险孕妇。

Objective： To explore the clinical value of maternal blood Down＇s syndrome screening during the second trimester of pregnancy for fetal chromosomal abnormalities and neural tube defects. Methods： A total of 4 510 pregnant women of 14 -20 gestational weeks underwent Downg syndrome screening. The high risk pregnant women received fetal karyotype analysis, while the high risk pregnant women of neural tube defects were diagnosed definitely by ultrasonography. All the high risk pregnant women were followed up until the birth of the neonates. Results： A total of 4 510 pregnant women underwent Down g syndrome screening, and 235 high risk pregnant women were screened out, the positive screening rate was 5.21%. Among 235 high risk pregnant women, the detection rates of chromosomal abnormali- ties among pregnant women more than 35 years and pregnant women less than 35 years were 3.11% and 9.46% , respectively. Among 235 high risk pregnant women, 69 pregnant women underwent prenatal diagnostic amniocentesis, the amniocentesis rate was 29. 36%. Among 69 pregnant women receiving prenatal diagnostic amniocentesis, 12 pregnant women were diagnosed as chromosomal abnormalities, the abnormal rate of amniocentesis was 17.39%. Among 12 pregnant women with chromosomal abnormalities, 5 pregnant women were found with trisomy 21, accounting for 41.67%. Conclusion： Downg syndrome screening plays an active role in improving the quality of newborn babies and re- ducing the incidence rates of birth defects; the amniocentesis rate needs to be increased among the high risk pregnant women of Downg syn- drome in Hanyang district, the management of follow - up work of prenatal screening needs to be enhanced, at the same time, the screening of low risk pregnant women should be paid more attention to.