孕中期母血三联生化指标对胎儿神经管缺陷和染色体异常的临床应用  

Application of triple screen testing in detecting neural tube defect and chromosome abnormalities during the middle period of pregnancy.

作　　者：窦蓉[1] 朱祖华[1] 孙晨光[1] 王秀玲[2] 孟晓彦[2] 陈梅芳[2] 曹慈慧[2] 

机构地区：[1]上海市长宁区中心医院检验科遗传室,上海200336 [2]上海市长宁区中心医院妇产科,上海200336

出　　处：《中国优生与遗传杂志》2005年第2期36-38,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　探讨采用甲胎蛋白 (αFP) ,绒毛膜促性腺激素 β亚单位 (Freeβ -hCG) ,游离雌三醇 (μE3)血清三联法在孕中期胎儿神经管缺陷 ,染色体异常为主的先天性缺陷的产前筛查作用。另外 ,上述 3项指标的异常与高危孕妇的关系。方法　对 2 0 0 0年 8月至 2 0 0 3年 8月来我院进行产前检查的孕妇 ,在知情情况下 ,自愿选择唐氏血清标记筛查。总计 75 6例 ,采用酶联免疫法测定上述 3项指标 ,并结合孕妇临床资料 ,用唐氏筛查风险软件进行分析。测定结果为高风险孕妇者经遗传咨询 ,并通过羊水细胞染色体核型分析给予确诊。最后随访追踪每例筛选的孕妇至胎儿出生。结果　 75 6例孕妇中 ,高危人群10 9例。异常胎儿 5例 ,异常胎儿在人群中的检出率为 0 .7% ,其中性染色体异常 1例 ,死胎 3例 ,畸胎 1例。并发现唐氏征高风险的孕妇伴有妊娠并发症 14例。结论　对胎儿先天性缺陷 ,特别是开放性神经管缺陷 ,染色体异常的胎儿产前筛查是重要的手段之一。产前筛查可降低围产儿死亡率 ,降低出生缺陷率。它具有重要的社会效应和实用性 ,可普遍推广使用。Objective: In this paper, a new prenatal testing has been introduced in the detection of fetal abnormalities in the fetus, including Down syndrome, which involves serum markers. Blood is taken from pregnant women and the maternal blood is tested for three hormones. This test is called the 'triple screen' test. The three hormones tested are alpha-foetoprotein (αFP),Free Beta-Subunit of human chorionic gonadotrophin(Free β-hCG) and Ultra-Sensitiv Unconjugated Estriol(μE3). In additional, the abnormal reading of the three hormones during the screening tests has been developed to try to identify pregnancies that are at 'high risk.' These pregnancies are then candidates for further diagnostic testing. Methods: Using enzyme-linked immunosorbent assay to measure the three hormones that have been applied to 756 pregnant women from August 2000 to August 2003, who have volunteered to have a Down syndrome's serum marker screening in our hospital, during which their pregnancies were monitored till the birth of their children. The screening results combined with other data collected from the tests about the pregnant woman have been analyzed by using Down syndrome's risky software to identify higher risked pregnancies. These candidates have been diagnostically tested by using cell DNA analysis extracted from their amniotic fluid. Results: Among 756 screenedpregnancies, 109 cases have been identified as high risk. Five fetuses have been discovered to have fetal abnormalities, which is 7 percent of the total screened pregnancies. Among the five fetal abnormal fetuses, there is one case of abnormalities in the sex chromosome, one case of defects and three cases of still birth. Also, in the14 pregnancy cases that have been screened to have high Down Syndrome risks have also exhibit complications during pregnancies. Conclusions: Prenatal testing can give information about a pregnant woman's risk of having a baby with certain birth defects, such as neural tube defect and abnormalities in the chromosome. Prenatal testing

关 键 词：产前筛查 染色体异常 神经管缺陷 甲胎蛋白 绒毛膜促性 腺激素β亚单位 游离雌三醇 

分 类 号：R714.55[医药卫生—妇产科学]