西宁地区1831例孕妇孕早期唐氏综合征血清学筛查与唐氏儿检出关系研究  

Study on the Relationship between Serum Screening and Down’s Infant Detection in 1 831 Cases of Early Pregnancy in Xining

作　　者：包文芳[1] 马慧英[1] 贺玉娟 杜国梅 王芳[1] Bao Wenfang;Ma Huiying;He Yujuan;Du Guomei;Wang Fang(Qinghai Red Cross Hospital,810000)

机构地区：[1]青海红十字医院检验科

出　　处：《青海医药杂志》2019年第6期1-4,共4页Qinghai Medical Journal

摘　　要：目的:研究西宁地区1 831例孕妇孕早期血清标志物筛查与胎儿唐氏综合征检出的关系。方法:应用西门子IMMULITE1000化学发光仪及配套试剂对妊娠(9~13)周的1 831例孕妇进行血清妊娠相关血浆蛋白A(PAPP-A)和人绒毛膜促性腺激素β亚单位(β-hCG)的测定,结合超声NT值评估患者高风险情况。结果:1 831例孕妇中,筛查21-三体综合征(DS)高危157例,筛查阳性率为8.57%(157/1 831);18-三体综合征高风险36例,筛查阳性率为1.97%,未发现神经管缺陷病例。其中118例高风险孕妇接受了羊毛腔穿刺术选取羊水细胞进行染色体核型分析,确诊2例为DS,真阳性率为1.69%,均实施了相关手法终止妊娠。结论:孕早期联合检测血清PAPP-A和β-hCG,有利于高风险胎儿早期诊断和早期干预,为产前诊断提供重要信息,是降低出生缺陷率的有效方法。Objective:By retrospective analysis, the relationship between serum markers screening and Down’s syndrome detection in 1 831 pregnant women in Xining was analyzed. Methods:The serum pregnancy-related plasma protein A(PAPP-A) and human chorionic gonadotropin beta subunit(β-hCG) were measured in 1 831 pregnant women from 9 to 13 weeks of gestation with Siemens Immulite 1 000 chemiluminescence instrument and matching reagents. The high risk of the patients was assessed by NT value of ultrasound.Results:Among 1 831 pregnant women,157 were at high risk of trisomy 21 syndrome(DS), and the positive rate was 8.57%(157/1 831);36 were at high risk of trisomy 18 syndrome(1.97%). No cases of neural tube defects were found. Among them, 118 high-risk pregnant women underwent amniocentesis to extract amniotic fluid cells for chromosome karyotype analysis. Two cases were diagnosed as DS.The true positive rate was 1.69%.Relevant methods were used to terminate pregnancy.Conclusions:Combining detection of serum PAPP-A and beta-hCG in early pregnancy is conducive to early diagnosis and early intervention of high-risk fetuses, which can provide important information for prenatal diagnosis and effective means to reduce the rate of birth defects.

关 键 词：唐氏综合征 妊娠相关血浆蛋白A 人绒毛膜促性腺激素Β亚单位 

分 类 号：R473.71[医药卫生—护理学] R730.3[医药卫生—临床医学]