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。
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 690？ 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 pre- vent birth defects and improve the birth quality.
出处
《中国优生与遗传杂志》
2012年第11期70-71,66,共3页
Chinese Journal of Birth Health & Heredity
关键词
妊娠中期
产前筛查
产前诊断
出生缺陷
Trimester
Prenatal screening
Prenatal diagnosis
Birth defects
