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目的探讨孕中期血清学二联筛查MoM低值和超声见可疑异常、血清学临界风险孕妇行产前染色体诊断的价值。方法应用时间分辨荧光免疫分析系统(TRFIA)对68 021例孕中期孕妇进行血清甲胎蛋白(AFP)和游离绒毛膜促性腺激素β(β-hCG)定量检测,结合各种影响因素,利用Lifecycle风险计算软件,综合评估胎儿21-三体(唐氏综合征,DS)和18-三体(爱德华氏综合征,ES)风险值。AFP中位数倍数(MoM)值低于0.4、游离β-hCG MoM值低于0.25及DS风险值处于1/800-1/270、ES风险值处于1/800-1/350的临界风险孕妇,实施与染色体异常相关的胎儿系统超声检查,发现可疑异常者行产前染色体检测。结果共筛查出临界风险孕妇5687例,MoM低值孕妇319例。61例超声检查可疑异常临界风险孕妇进行了产前染色体诊断,确诊染色体异常7例;74例MoM低值孕妇进行了产前染色体诊断,确诊染色体异常10例。结论血清学筛查AFP、β-hCGMoM低值和临界风险中超声见可疑异常的孕妇,行产前染色体诊断是十分必要的。
Objective To explore the value of preterm prenatal chromosome diagnosis in pregnant women with mid-second trimester serological screening of MoM low and ultrasonography with suspicious abnormalities. Methods Serum alpha-fetoprotein (AFP) and free-form chorionic gonadotropin beta (beta-hCG) were detected in 68 021 middle-term pregnant women by time-resolved fluorescence immunoassay system (TRFIA). Combined with various influencing factors, Risk calculation software for a comprehensive assessment of risk for fetal trisomy 21 (DS) and 18-trisomy (Edwards syndrome). AFP median MoM values below 0.4, free β-hCG MoM values below 0.25 and DS risk at 1 / 800-1 / 270, ES risk at 1 / 800-1 / 350 critical risk for pregnant women , The implementation of fetal abnormalities associated with chromosomal abnormalities ultrasound system, found suspicious persons prenatal chromosome detection. Results A total of 5687 pregnant women with critical risk and 319 pregnant women with low MoM were screened out. Sixty-one pregnant women with suspicious abnormal critical risk were diagnosed as prenatal chromosomes and 7 cases were diagnosed as chromosomal abnormalities. Prenatal chromosome diagnosis was performed in 74 cases with low MoM values and 10 cases were diagnosed chromosomal abnormalities. Conclusion Serological screening of AFP, β-hCGMoM low and critical risk of suspicious abnormalities seen in pregnant women, prenatal chromosome diagnosis is very necessary.