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目的通过孕中期血清甲胎蛋白(AFP)及游离绒毛膜促性腺激素(free-βHCG)的测定联合超声筛查,探讨提高妊娠中期唐氏综合征(Down’s syndrome,DS)检出率的方法,预防和减少唐氏儿的出生。方法应用酶联免疫法对本所2011年期间18 996例妊娠15~20w预产期年龄<35周岁孕妇进行血清甲胎蛋白(AFP)和游离绒毛膜促性腺激素(free-βHCG)检测,自定义高风险切割值为1/275,自定义临界风险1/276~1/800,对高风险者建议进行产前诊断,及对临界风险者建议结合超声软指标筛查。结果在18 996例孕妇中检出DS高危968例、阳性率5.1%。最终在高危人群中确诊DS 10例,其他染色体异常5例,假阳性率5%;临界风险结合超声筛查检出DS3例、其他染色体异常1例,检出畸形17例。低风险人群中漏诊2例。结论通过测定孕中期妇女血清AFP和F-βHCG的浓度进行风险分析,并结合超声软指标筛查对降低DS患儿的出生有重要意义。
Objective To explore the method to improve the detection rate of Down’s syndrome (DS) in the second trimester of pregnancy by screening the serum alpha-fetoprotein (AFP) and free-beta HCG during the second trimester, Prevent and reduce Down’s birth. Methods Serum alpha-fetoprotein (AFP) and free-free HCG (HCG) were detected in 18 996 pregnant women between the ages of 15 and 20 weeks with gestational ages of 15 to 20 weeks and 35 years of age during 2011 by using enzyme-linked immunosorbent assay Cutting value of 1/275, custom critical risk 1/276 ~ 1/800, the proposed risk for pre-natal diagnosis of high risk, and those who recommend the combination of critical risk ultrasound soft screening. Results Among 18 996 pregnant women, 968 high-risk DS patients were detected, the positive rate was 5.1%. Finally, 10 cases were diagnosed as DS in high-risk group, 5 cases were other chromosomal abnormalities, the false positive rate was 5%. The critical risk combined with ultrasound screening was DS3 cases, other chromosomal abnormalities were found in 1 case and 17 cases were detected abnormalities. Two cases missed diagnosis in low risk population. Conclusions The risk analysis of serum AFP and F-βHCG in pregnant women during the second trimester is carried out. Combined with the screening of soft-sensor ultrasound, it is of great significance to reduce the birth of DS children.