摘要
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-13HCG）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）捡出率的方法，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18996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18996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DS10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 improve the detection rate of Down＇s syndrome, and to prevent and reduce the birth of babies with Down＇s syndrome by detection of the serum AFP and free beta human chorionic gonadotropin combined with ultrasound screening in the midtrimester of pregnancy. Methods： Enzyme -linked immuno sorbent assay （ELISA） was applied to 18 996 pregnant women at 15 20 weeks of gestation age with less than 35 years old when the expected date of childbirth comes between January, 2011 to December, 2011 to detect serum AFP and free beta human chorionic gonadotropin. High - risk cutting value was 1/275, 1/276 - 1/800 was crossover risk. The pregnant women with high risk were suggested to take prenatal diagnosis, and the pregnant women with crossover risk were suggested to take ultrasound screening. Results： Among 18996 pregnant women, Down＇s syndrome high- risk was detected in 968 pregnant women, and the positive rate was 5. 1%. Finally in the high -risk group, 10 cases were diagnosed Down＇s syndrome, and 5 cases were detected other chromosomal abnormalities. The false positive rate was 5%. In the crossover risk group, the pregnant women with abnormalities during ultrasound screening also took prenatal diagnosis. 3 cases were diagnosed Down＇s syndrome, and 1 case was detected other chromosomal abnormalities. 17 cases were checked out deformity by ultrasound screening. In the low - risk group, 2 Down＇s syndrome cases were missed diagnosed. Conclusion： The risk analysis of Serum AFP and free beta human chorionic gonadotropin concentrations, and combined with ultrasound soft markers screening to the midtrimester pregnant women has an important significance on reducing the birth of Down＇s syndrome babies.
出处
《中国优生与遗传杂志》
2014年第4期71-72,82,共3页
Chinese Journal of Birth Health & Heredity
关键词
唐氏综合征
血清筛查
超声软指标
孕中期
Down＇s syndrome
Serum screening
Ultrasound screening
The midtrimester of pregnancy
