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目的探讨孕中期母血产前筛查对发现染色体异常和其他异常妊娠的临床价值。方法采用化学发光法对5968例孕中期(14+0~22+6)妇女进行血清标志物AFP、UE3和HCG三项指标进行检测。结果应用Prisca 4软件计算21-三体(唐氏综合征)、18-三体、神经管畸形(NTD)的风险值。21-三体综合征切割值为1∶250,≥1∶250为21-三体综合征高风险;18三体的风险切割值为l∶350,≥1∶350为18-三体综合征高风险;AFP的MOM的正常范围为0.65~2.5,大于2.5的为NTD高风险。对于21或18三体高危孕妇,于孕16~22w左右进行羊膜腔穿刺,抽取羊水进行胎儿染色体核型分析;对NTD高风险的孕妇建议进行B超检查。追踪产前诊断及胎儿的情况。结果在回访的5968例孕妇中,筛查到高危的408例,阳性率为6.8%(408/5968),包括21三体和18三体高危共377例,其中162例高危孕妇进行产前诊断,产前诊断率为43%(162/377)。发现胎儿染色体异常7例,异常检出率4.3%(7/162),其中3例为21-三体综合征、1例18三体综合征、1例9号染色体臂间倒位、1例47,XXX、1例平衡易位。NTD高风险31例,确诊2例,检出率6.5%(2/31)。总检出率4.7%(9/193)结论孕中期血清AFP、uE3和HCG标记物是产前筛查异常胎儿的有效指标,再结合羊水或脐带血、B超产前诊断对防止先天缺陷有实用的价值。
Objective To investigate the clinical value of maternal blood screening in the second trimester to detect chromosomal abnormalities and other abnormal pregnancies. Methods The chemiluminescence method was used to detect the serum levels of AFP, UE3 and HCG in 5968 pregnant women of the second trimester (14 + 0 ~ 22 + 6). Results Prisca 4 software was used to calculate the risk of 21-trisomy (Down’s syndrome), 18-trisomy, and neural tube defects (NTD). 21-trisomy syndrome cut value of 1: 250, ≥ 1: 250 for 21-trisomy syndrome risk; 18 trisomy risk cut value of l: 350, ≥ 1: 350 for the 18-trisomy syndrome High risk; AFP MOM normal range of 0.65 ~ 2.5, greater than 2.5 NTD high risk. For 21 or 18 trisomy high-risk pregnant women, in the pregnancy about 16 ~ 22w amniocentesis, amniotic fluid extraction fetal chromosome karyotype analysis; high risk NTD pregnant women recommended B-ultrasound. Tracking prenatal diagnosis and fetal status. Results Of the 5968 pregnant women who returned to our hospital, 408 were at high risk. The positive rate was 6.8% (408/5968), including 377 cases of trisomy 21 and 18 trisomy. Among them, 162 cases of high risk pregnant women were diagnosed as prenatal Prenatal diagnosis was 43% (162/377). Seven cases of fetal chromosomal abnormalities were found, with an abnormality of 4.3% (7/162). Among them, 21 cases were 21-trisomy, 1 case was trisomy 18, 1 case was reverse arm 9, 1 case 47, XXX, 1 cases of balanced translocation. Thirty-one patients with high risk of NTD were diagnosed in 2 cases with a detection rate of 6.5% (2/31). The overall detection rate was 4.7% (9/193) Conclusions The second trimester serum AFP, uE3 and HCG markers are effective indicators of prenatal screening of abnormal fetuses, combined with amniotic fluid or cord blood, B-prenatal diagnosis to prevent congenital defects have Practical value.