【摘要】 目的调查分析常州地区5年来的产前筛查/诊断情况。方法采用妊娠中期联合母血清AFP与f-βHCG二联标志物的筛查方法对24 408例妊娠妇女进行产前筛查,对高风险者经遗传咨询进行羊水诊断。结果①24 408例妊娠妇女经产前筛查有1 268例为高风险,筛查阳性率达5.19%;②1 268例高风险孕妇,经知情同意有648例进行羊水产前诊断,诊断率59.50%;③经羊水染色体核型分析确诊胎儿染色体异常13例(2.00%),其中唐氏综合征3例、18三体2例、13三体1例,胎儿染色体多态性29例(4.48%);④441例高风险孕妇未经羊水染色体产前诊断,经随访共发现不良妊娠结局18例,其中唐氏综合征新生儿2例;⑤5年内共发生3例假阴性,假阴性率达0.1‰。结论妊娠中期产前筛查/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 investigate and analyze the prenatal screening/diagnosis in Changzhou.【Method】 By DELFIA,serum AFP and f-βHCG level of 24 408 pregnant women were detected.And high-risk women were diagnosed by amniotic fluid cytology.【Results】 ①Among 24 408 pregnant women,1 268 cases were high risk.The positive rate was 5.19%.②648 cases were accepted amniotic fluid cytology,and the rate was 59.50%.③13 cases of fetal chromosomal abnormalities were found,of which 3 cases of Down syndrome,2 cases of trisomy 18,1 case of trisomy 13,and 29 cases were fetal chromosome polymorphism.④441 didn’t need to accept amniotic fluid for prenatal diagnosis.After tracking follow-up,there were 18 cases adverse pregnancy happened.⑤In 5 years,there were 3 cases who were false negative,the rate was 0.1‰.【Conclusions】 Second trimester prenatal screening/diagnosis is to prevent birth defects and improve the birth quality.更多还原