攀枝花市2009～2011年孕中期产前筛查结果分析.docVIP

攀枝花市2009～2011年孕中期产前筛查结果分析 张方芳 刘佳 余沂菲 梅雪 姜百灵 徐永琴 [四川省攀枝花市妇幼保健院围产保健科 四川攀枝花617000] 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。 关键词：妊娠中期；产前筛查；产前诊断；出生缺陷； The result analysis of second trimester prenatal screening in Panzhihua city ZHANG Fang-fang, LIU Ja, YU Yi-fei, MEI Xue,JIANG Bai-ling, XU Yong-qin (The perinatal care Division of Women and Children’s Hospital of Sichuan,Panzhihua, 617000) 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 . Key words: trimester；prenatal screening; prenatal diagnosis; birth defects; 唐氏综合征是引起人类智力发育障碍最常见的一种染色体疾病，在活产儿中的发病率为1 /800 ～ 1 /600[1]；神经管畸形是一组高发的严重先天畸形，约占总先天畸形的20% －25%[2]，上述二种出生缺陷至今均无有效的治疗方法。因而对此进行产前筛查和产前诊断是出生缺陷二级预防的重要组成部分，对保障人口质量，增强人口素质具有重要的现实意义。 攀枝花市妇幼保健院于2009年5月正式成立四川省产前诊断中心攀枝花分中心。共对6907例单胎中孕期妇女进行产前筛查，对高风险者经遗传咨询后进行产前诊断。现将2 年半产前筛查结果分析如下。 1 资料与方法 1.1 对象： 2009 年5月～20