【摘要】 目的分析攀枝花市2年半的产前筛查/产前诊断情况。方法对6907例孕15～20+6w单胎妇女进行血清甲胎蛋白(AFP)和游离绒毛膜促性腺激素(β-hCG)二联标志物的筛查,对高风险孕妇进行遗传咨询,在知情同意的情况下选择羊水染色体检查以明确诊断。结果 6907例经产前筛查有288例为高风险,筛查阳性率达4.17%;253例染色体高风险孕妇,经知情同意有159例进行羊水产前诊断,诊断率62.84%;确诊胎儿染色体异常2例,其中唐氏综合征1例、18-三体1例。经随访共发现不良妊娠结局29例,其中唐氏综合征新生儿1例;2年半内共发生3例假阴性,假阴性率达0.45‰。结论妊娠中期产前筛查/产前诊断是防止出生缺陷、提高出生人口素质的有效手段。更多还原

【Abstract】 Objective:To analyze the prenatal screening/diagnosis in Panzhihua in 2 years and a half.Method:Serum samples were collected on middle period singleton pregnancy(15~20+6 week) and free-βhCG and AFP level were determined.Then the high-risk population of prenatal screening,who were offered genetic counseling,if they agree to,were diagnosed by amniotic fluid cytology.Results:Among 6907 pregnant women,288 cases were high risk.The positive rate was 4.17%.253 cases were accepted amniotic fluid cytology,and the rate was 62.84%.2 cases of fetal chromosomal abnormalities were found,of which 1 case of Down syndrome,1 case of trisomy 18.After tracking follow-up,there were 28 cases adverse pregnancy happened.In 2 years and a half,there were 3 cases who were false negative,the rate was 0.45‰.Conclusions:Second trimester prenatal screening/diagnosis is to prevent birth defects and improve the birth quality.更多还原