江苏地区中期妊娠母血清筛查胎儿开放性神经管缺陷的结果分析  

Second trimester neural tube defects maternal serum marker screening.Results of Jiangsu province study.

作　　者：郑明明[1] 胡娅莉[1] 刘启兰[2] 许碧云[1] 陈启光[3] 

机构地区：[1]南京大学医学院附属鼓楼医院,210008 [2]江苏省计划生育科学技术研究所,210000 [3]东南大学公共卫生学院流行病与卫生统计系,210009

出　　处：《中国优生与遗传杂志》2007年第11期87-89,4,共4页Chinese Journal of Birth Health & Heredity

基　　金：江苏省出生缺陷干预工程项目(JS2003-02)

摘　　要：目的评价江苏省中期妊娠母血清筛查胎儿开放性神经管缺陷（NTD s）的效率。方法采用分层抽样和整群抽样相结合的多阶段抽样方法,在江苏省苏南、苏中、苏北地区以乡（镇）或街道为单位,抽取95个项目点,抽样时间为1年。项目点所有妊娠15~20周的妇女接受母血清AFP、f-βHCG检测,同时B超确定孕龄,在孕妇体重校正的基础上,计算胎儿患开放性神经管缺陷的风险值。同时加强孕期超声胎儿结构畸形筛查,尤其对高风险者进行进一步超声检查。对超声检查出胎儿开放性神经管缺陷者及时引产,随访所有妊娠结局,活产儿至出生后的6个月~4岁。结果95个项目点1年中共有妊娠妇女27313位,参与产前筛查者26803例,占同期总妊娠妇女的98%。孕妇平均年龄25.1岁,≥35岁者占1.7%。母血清筛查为开放性神经管缺陷高风险者220例,筛查阳性率占筛查人群的0.82%。最终妊娠结局显示开放性神经管缺陷儿共20例,其中孕早期流产缺乏筛查数据4例、开放性神经管缺陷筛查高风险9例、唐氏综合征筛查高风险3例、筛查低风险4例。本组中期妊娠母血清AFP、f-βHCG联合筛查开放性神经管缺陷的检出率为75%（12/16）,NTD高风险检出率为56.25%（9/16）。结论在严格质量控制的基础上,妊娠中期母血清AFP、f-βHCG二联筛查胎儿开放性神经管缺陷有较高的检出率。Objective： To evaluate the second trimester Down syndrome maternal serum marker screening for fetal neural tube defects efficiency. Methods： A population - based screening for fetal neural tube defects in the second trimester using maternal serum AFP, f-βHCG was conducted in Jiangsu province between July 2002 and November 2006. 95 communities were taken out , which covers whole Jiangsu province. The risk estimates for fetal neural tube defects based on maternal age, alpha- fetoprotein （AFP） and human chorionic gonadotropin free 13 subunit （f- βHCG）. Screening results caculated to be equal to or greater than 1 ： 270 for Down syndrome or AFP≥2. 5MoM for neural tube defects were considered positive. If gestational age was confirmed by ultrasonography genetic counseling and targeted ultrasound were offered. All babies were followed up until six months to four years old after their birth. Results ： During our program proceeding 26803 women of total 27313 women （98%） were screened, of which 1244 （5%） were found to be Down syndrome positive and 220 （0. 82% ） were neural tube defects positive. The final pregnant outcomes show that 20 cases present neural tube defects totally of which 12 cases suffer from anencephaly, 4 cases spina bifida and 4 cases cephalocele, In this study the detection rate of neural tube defects is 56. 25% and 75% respectively by AFP alone and combining AFP and f - βHCG. Conclusion. Under good quality control high prenatal detection rate of fetal neural tube defects can be reached by means of the second trimester maternal serum makers.

关 键 词：产前筛查 母血清甲胎蛋白 人绒毛膜促性腺激素游离β亚单位 开放性神经管缺陷 出生缺陷 

分 类 号：R714.53[医药卫生—妇产科学]