海口市15000例孕中期唐氏筛查结果分析  

Analysis of Down’s Screening Results of 15000 Mid-pregnancy Cases in Hai Kou City

作　　者：邢薇 符爱贞 毕超[2] 周冰[1] 韩燕媚 刘惠 王珊 杨绮妍 XING Wei;FU AI-zhen;BI Chao;ZHOU Bing;HAN Yan-mei;LIU Hui;WANG Shan;YANG Qi-Yan(Department of Obstetrics,The Women and Children Health Care Hospital of Haikou Hainan,Haikou 571100;Prenatal Screening Center,The Women and Children Hospital of Haikou Hainan,Haikou 571100;Department of Obstetrics,Hainan Medical University The First Ajfiliated Hospital Hainan,Haikou 570100;Delivery Room,Hainan Women and Children Medical Center,Hainan Haikou 570100;Obstetrics and Gynecology Department,Hainan Modern Women&Infants Hospita Hainan,Haikou 570100)

机构地区：[1]海口市妇幼保健院产科,海口570100 [2]海口市妇幼保健院产前筛查中心,海口570100 [3]海南医学院第一附属医院产科,海口570311 [4]海南省妇女儿童医学中心产房,海口570100 [5]海南现代妇女儿童医院妇产科,海口571100

出　　处：《中国优生与遗传杂志》2020年第11期1332-1334,1387,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕中期唐氏综合征血清筛查阳性率及染色体异常的影响因素。方法对我市区2016年1月至2018年12月15 000例孕中期孕妇血清甲胎蛋白、游离雌三醇、游离人绒毛膜促性腺激素β-亚单位水平进行检测与高危判断;对唐氏综合征血清学筛查高风险(切割值≥1/270)的孕妇行羊膜腔穿刺羊水细胞染色体核型分析,结合年龄、体质量、孕周等影响因素,评估唐氏综合征、18-三体综合征和开放性脊柱裂的高危风险。结果筛查出唐氏综合征、18-三体、神经管缺陷阳性率分别为4.19%、0.60%、0.63%。≥35岁年龄组唐氏综合征、18-三体、神经管缺陷筛查阳性率与其他年龄组差异有统计学意义(P<0.05);唐氏综合征、18-三体综合征阳性率、神经管缺陷与体质量无明显相关性(P>0.05)。与其他孕周组检查比较,孕15-17唐氏综合征筛阳性率较高,差异有统计学意义(P<0.05);唐氏综合征高风险孕妇染色体异常情况为21-三体综合征胎儿5例、18-三体综合征胎儿3例、13-三体综合征2例,其年龄分布较筛查平均年龄高,体质量与孕周期分布无明显差别。结论唐氏综合征高风险的主要因素为高龄,建议适当早育以减少因高龄诱发的唐氏综合征患儿出生。Objective:To analyze the factors influencing the positive rate of serum screening and abnormal karyotype of chromosome in Down’s syndrome in the second trimester.Methods:Serum levels of alpha fetoprotein,free estradiol and free human chorionic gonadotropin-beta subunit were measured in15 000 pregnant women at the second trimester from January 2016 to December 2018.Chromosome karyotypes of amniocentesis cells were analyzed in pregnant women with high risk of down syndrome serological screening(cut value 1/270).The risk of Down’s syndrome,Edwards’ syndrome and neural tube defect were evaluated by analyzing the results of the screening tests,combined with factors such as age,weight,gestational week and screening date.Results:The positive rate of Down’s syndrome was 4.19%,.Edwards’syndrome and neural tube defect were 0.60 % and 0.63%.The positive rates of Down’s syndrome in the age older than 35 years old had statistical difference with the age younger groups(P<0.05).There was no significant correlation between the positive rates of Down’s syndrome,Edwards’ syndrome and neural tube defect with the body weight(P>0.05).At 15-17 weeks,the positive rates of Down’s syndrome were higher,which were significantly different from those in other gestational weeks(P<0.05).5 cases of DS,cases of trisomy 18 and 3 cases of trisomy 18 were found among the pregnant women at high risk.The age distribution was higher than the average.Conclusion:The age of pregnant women is the main factor contributing to the high risk of Down’s syndrome,early childbirth should be underlined for the reduction of high-risk birth defects.

关 键 词：产前筛查 唐氏综合征 18一三体综合征 神经管缺陷 

分 类 号：R714.5[医药卫生—妇产科学]