摘要
目的探讨孕中期母血唐氏筛查及异常妊娠的临床价值。方法采集孕中期(16～20周)母血,以美国Zymed"孕中期唐氏综合征产前筛查试剂盒"检测血清AFP和β-HCG,结合母龄、孕周、体质量等,采用软件综合计算胎儿染色体病的发病风险。对高风险孕妇行羊水细胞或脐带血细胞核型分析以确诊,并跟踪到胎儿出生。同时,将孕妇分为≥35和﹤35周岁组,唐氏阳性和阴性组,分别对其筛查结果和不良妊娠进行分析。结果共筛查6000例,552例阳性,漏检1例,阳性率约9.2%,接受羊水或脐带血穿刺者463例(84%),胎儿有染色体异常者共27例,建议终止妊娠者14例,其余13例为染色体多态性变异。≥35和﹤35周岁两组孕妇筛查阳性率分别是95.5%和8.2%(P<0.0001),其胎儿染色体异常率分别是4.5%和2.9%(P>0.5);筛查阳性和阴性两组中妊娠不良结局发生率分别为5.6%和0.05%(P<0.0001),妊娠并发症发生率分别率分别为11.8%和3.7%(P<0.0001),胎儿染色体多态性发生率分别为2.8%和1.1%(P>0.5)。结论孕中期血清AFP和β-HCG联合检测,对于预测胎儿染色体病具有重要临床价值,可有效降低染色体病患儿的出生率,并对预防不良妊娠和妊娠并发症的发生具有一定应用价值。
Objective To study the clinical value of screening chromosomal diseases and abnormal pregnancy by maternal serum examination in mid-pregnancy. Methods Maternal serum AFP and F-βhCG were detected in the mid-pregnancy （16-20 weeks） using commercially available detection kits, and the risk of Down syndrome was calculated taking into account ofsuch factorsasthe maternal age, gestational age, and bodyweight. Those at high risk underwent amino fluid or cordocentesis for fetal karyotpying. The pregnant women were divided into ≥35 years and 35 years groups, and high and low risk for Down syndrome groups for test results and pregnancy outcome analysis. Results Of the 6000 pregnant women undergoing antenatal screening, 552 were identified to be at high risk of Down syndrome （9.2%） with one missing case of detection, and 463 of the high-risk cases underwent amino fluid or cordocentesis examination. Twenty-seven cases were found to have abnormal chromosomes, and abortion was suggested in 14 cases but not in the other 13 cases where other chromosomal abnormalities such as polymorphic mutations were found. The screening positive rate in ≥35 years and 35 years group was 95.5% and 8.2% （P0.0001）, with fetal chromosomal abnormality rate of 4.5% and 2.9%, respectively （P0.5）. The rate of abnormal pregnant outcomes for high and low risk groups was 5.6% and 0.05% （P0.0001）, with pregnancy complication rate of 11.8% and 3.7% （P0.0001） and fetal chromosomal polymorphic mutation rate of 2.8% and 1.1% （P0.5）, respectively. Conclusion Maternal serum AFP and F-βhCG levels in second trimester have important values in predicting fetal chromosomal diseases, and their detection may help reduce the birth defect rate and prevent abnormal pregnancy outcomes and complications.
出处
《南方医科大学学报》
CAS
CSCD
北大核心
2010年第3期532-534,537,共4页
Journal of Southern Medical University
基金
广东省医学科研基金
东莞市科技局资助课题(2008105150054)
关键词
孕中期
唐氏筛查
染色体病
羊水细胞
middle period pregnancy
Down syndrome screening
chromosomal diseases
amniotic fluid cells
