2698例孕早期产前筛查结果分析  

Analysis on the results of prenatal screening during the first trimester of pregnancy in 2 698 cases

作　　者：金华[1] 蔡艳[1] 刘真真[1] 赵燕[1] 高青[1] 罗颖[1] 曹鲁泉 陶靖[1] 

机构地区：[1]山东省济南市妇幼保健院产前诊断中心,250001

出　　处：《中国妇幼保健》2014年第7期1064-1066,共3页Maternal and Child Health Care of China

基　　金：山东省科技发展计划项目〔2007GG20002036〕

摘　　要：目的：探讨孕早期唐氏综合征产前筛查在济南地区的实用性和可行性。方法：应用时间分辨免疫荧光方法检测2698例妊娠9～13“周孕妇的血清中妊娠相关血浆蛋白A（PAPP—A）、游离B-人绒毛膜促性腺激素（freep—HCG）值，并于妊娠11～13“周超声测定胎儿颈项半透明膜厚度（NT），将所得值与孕妇年龄、体重、孕周代人芬兰产孕早期产前筛查评估系统，得出目标疾病的风险值，在知情同意的前提下对高风险人群实施产前诊断，并对全部筛查孕妇进行随访。结果：2698例孕妇中筛查目标疾病高风险人群为108例，阳性率为4％，67例接受了绒毛产前诊断，30例接受了羊水产前诊断，检出唐氏综合征患儿4例，18-三体1例，其他染色体异常2例。随访未发现漏诊患儿，但发现了16例其他胎儿异常：胎儿多发畸形6例，死胎3例，胎儿水肿5例，多囊肾1例，唇腭裂1例。结论：孕早期血清标志物结合超声NT的产前筛查，对于有效地防止目标疾病的出生有实际应用价值；可将产前诊断时间大大提前，降低了因孕周过大引产对孕妇的损伤，减轻了孕妇精神负担。Objective： To explore the availability and feasibility of prenatal screening for Downg syndrome during the first trimester of pregnancy in Jihan region. Methods： Time - resolved fluorescence method was applied to evaluate serum PAPP - A, free β - HCG and nucbal translucency （NT） by time -resolved fluoroimmunoassay in 2 698 cases during 9 - 13 ＋6 gestational weeks, and the results combined with age, gestational weeks, and weight of the pregnant women, were input into the prenatal screening software assessment system made by Finland. The risks of the target diseases were evaluated, and prenatal diagnosis was carried out for the high risk population. Results ： A total of 108 cases were diagnosed as high risk population of target diseases in 2 698 pregnant women, and the positive rate was 4%. Among them, 67 cases accepted fluffy prenatal diagnosis, 30 cases accepted amniotic fluid prenatal diagnosis, 4 cases with Down syndrome were diag- nosed. One ease with trisomy 18 was checked, 2 cases with other chromosomal abnormalities were diagnosed. During follow - up, children of misdiagnosis were not found, but 16 cases with other fetal abnormalities were found, including 6 cases with fetal multiple malformations, 3 cases of stillbirth, 5 cases with fetal hydrops, 1 ease with polycystic kidney, 1 case with cleft lip and palate. Conclusion： Prenatal screen ing of serum markers combined with nuchal translucency during the first trimester of pregnancy has practical application value for effectively preventing children born with target diseases, and it will be ahead of prenatal diagnosis time greatly, reduce the damage for odinopoeia along with increasing weeks of gestation and alleviate mental burden of the pregnant women.

关 键 词：产前筛查 孕早期 高风险 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]