【作者】 王芳；

【导师】 罗兵；

【作者基本信息】 青岛大学 ， 病原生物学， 2018， 硕士

【摘要】 出生缺陷(birth defect,BD)是指婴儿离开母体后就存在的形态、功能、生化和精神的异常,已成为世界上婴儿死亡、儿童和成人残疾的主要原因之一。我国于2001年开始实施出生缺陷干预工程,建立以一级干预为主体,二级干预为重点,三级干预为补充的三级防治体系。一级预防是指防止出生缺陷儿的发生,包括婚前检查、遗传咨询等;二级预防是指减少出生缺陷儿的出生,主要是在孕期通过早发现早诊断和早采取措施,以预防出生缺陷的发生,因而产前诊断和产前筛查尤为重要;三级预防是指缺陷儿出生后的处理。产前筛查与产前诊断属于二级干预,能够有效地预防出生缺陷的发生,减轻家庭及社会的负担。以人群发病率较高的21三体综合征为例,每出生一例唐氏儿,以目前的经济水平,将为家庭与社会增加60万左右的经济负担。同时,母亲年龄越大,发生概率越高,我国目前“二孩时代”的特殊时期使二级预防工作面临着严峻的挑战。目的:对2014-2016年青岛地区的产前筛查与产前诊断情况进行回顾性分析,探讨筛查模式的优化过程,为出生缺陷干预提供科学依据。方法:应用1235全自动时间分辨荧光免疫分析仪(1235Automatic Immunoassay System)测定孕妇血清标记物AFP、free-β-HCG、μE3的生化值,同时结合其孕周、年龄、体重等因素进行风险评估,对高风险或临界风险的孕妇召回,建议行羊水或无创DNA检测以及影像学检测,并紧密随访至出生后半年。ELISA检测优生四项(TORCH),严密把关指导产前妊娠过程。结果:(1)接受产前筛查的327788例孕妇中,高风险孕妇19025例(5.8%),其中16384例接受了无创DNA检测,检出阳性病例177例;5472例接受了羊水产前诊断,检出异常病例381例,其中2014年73例,占总检出阳性的75%(73/97),2015年102例,占总检出阳性的77%(102/132),2016年206例,占总检出阳性的88%(206/233),统计学分析表明,2016年检出异常例数所占比例明显高于2014年和2015年(χ2分别为9.07和7.934,P均<0.05);2014年与2015年的检出异常例数所占比例比较无显著性差异(P>0.05)。(2)接受酶联免疫法检测TORCH的孕妇共计11749例,各项指标阳性率分别为:弓形虫(Toxoplasma,T)特异性IgM为0.06%,T-IgG为0.25%;风疹病毒(rubella virus,RV)特异性IgM为0.03%,RV-IgG为31.1%;巨细胞病毒(cytomegalovirus,CMV)特异性IgM为0.5%,CMV-IgG 43.8%,单纯疱疹病毒(herpes simplex virus,HSV)特异性IgM 0.04%,HSV-IgG 4.3%,风疹病毒与巨细胞病毒感染率较高,优生事业中TORCH感染防控工作不能忽视。结论:实行血清学筛查联合无创DNA、羊水脐血产前诊断的逐级筛查模式,可以更有效地利用医疗资源,很大程度上降低出生缺陷的发生。更多还原

【Abstract】 Birth defects(BD)refers to the existing abnormality of form,function,biochemistry,and spirit when the infant leaves the mother’s body,which has become one of the main causes of infant death,disability in children and adults in the world.In 2001,China began to implement the birth defect intervention project,and established a three-level prevention and control system with primary intervention as the main body,secondary intervention as the key,and tertiary intervention as the supplement.Primary prevention is the prevention of birth defects,including pre-marital examination,genetic counseling,and so on;secondary prevention refers to the reduction of birth defects,mainly by early detection,early diagnosis and early adoption in pregnancy to prevent birth defects,so prenatal diagnosis and prenatal screening are particularly important;tertiary prevention is the treatment after the birth of a defective child.Prenatal screening and prenatal diagnosis belong to the secondary intervention,which can effectively prevent birth defects and reduce the burden on family and society.Taking the 21-trisomy syndrome as an example,the economic burden of the family and the society will be increased by about 600,000 per case at the present economic level.At the same time,the higher the mother’s age,the higher the probability of occurrence.In the special period of two child,the secondary prevention work faces serious challenges.Objective To implement thoroughly the “healthy china 2030” program raise by The state council of the party,to understand and analyze prenatal screening and prenatal diagnosis in Qingdao,and to provide a scientific basis for the intervention of birth defects,the prenatal screening and prenatal diagnosis in Qingdao from 2014 to 2016 were retrospectively analyzed.Method Biochemical values of the serum markers(AFP、free-β-HCG、μE3)of pregnant women were measured used by 1235 Automatic Immunoassay System.At the same time,combined with its conduct the risk assessment of pregnancy age,weight and other factors,recall the pregnant women who are at high risk or critical risk,and suggest follow-up amniotic fluid detection or non-invasive DNA testing and imaging detection,closely followed up until the second half of the year.Results Among the 327,788 pregnant women who received prenatal screening,the high-risk are 19025 cases(5.8%),of which 16,384 cases received non-invasive DNA testing,and 5472 cases received the amniotic fluid prenatal diagnosis,381 cases of abnormal cases were detected.The difference of abnormal detection rate is statistically significant.Conclusion As the two-child policy open,the number of older pregnant women is increasing.The subsequent prenatal testing pressure,high-throughput sequencing of all people on noninvasive DNA or amniotic fluid prenatal diagnosis is obviously unrealisti.Implements the serological screening joint noninvasive DNA,amniotic fluid,prenatal diagnosis,ultrasonic testing step by step screening model corresponds to the current national conditions of our country.更多还原