【作者】 杨瑞芳； 王明毅； 丁凤华； 张丽华； 吕怡静；

【Author】 Perinatalologic center.Perinatalologic center,Qilu Hospital of Shandong University 250012。Yang Ruifang,Wang Ming yi,Ding Feng hua,Zhong Lihua,Lu Yijing.

【机构】 山东大学齐鲁医院围产中心；

【摘要】 目的通过对孕妇行孕中期血清生化指标产前筛查,发现孕期胎儿染色体及神经管发育异常,降低出生缺陷率。方法采用时间分辨免疫荧光法(DELFLA)Eu 和 Sm 双标记试剂盒,测定孕妇空腹静脉血清 AFP 和 Freeβ-HCG 浓度,结合孕妇年龄、体重、是否双胎、有无糖尿病史及吸烟史等因素,采用随机软件计算唐氏综合征(DS)和神经管缺陷(NTD)的风险率。结果 5457例筛查孕妇中高风险435例,(唐氏综合征391例、NTD 30例、18-三体14例)高风险率8．10%。在391例唐氏综合征高风险孕妇中22例妊娠结局异常,其中4例唐氏综合征患儿,其他染色体异常7例。30例神经管缺陷高风险中8例妊娠结局异常。14例18三体高风险,1例于妊娠21周时羊水过多超声检查发现胎儿多发性畸形,1例多发畸形脐带囊肿,终止妊娠。小结产前筛查是降低出生缺陷的重要手段之一,不仅能发现预期筛查的疾病,也能发现其他胎儿发育异常,但是并不能发现各种发育异常的胎儿。更多还原

【Abstract】 Object.To do the bichemical prenatal screening in middle stage pregnancy,and to find out the abnormal chromosome, nevous tube defect(NTD).Method.Using-时间分辨免疫荧光法(DELFLA)test serum AFP and Free?-HCG,and then to get the risk rate of Down Syndrome and NTD.Results There were 435 cases with high-risk in the 5457 cases pregnancy screening.The positive rate was 8.10%.391 cases with high-risk of Done syndrome 30 cases with NTD positive,14 cases with high-risk for 18-trisomy syn- drome.There were 22 cases with abnormal pregnancy results in 391 cases of 21-trisomy high-risk.4 cases with 21-trisomy syndrome and 7 cases with the other chromosomal abnormal.There were 8 cases abnormal pregnancy results in 30 cases NTD high-risk.There was 1 case with multiform in 21 weeks pregnancy by B type ultrasound in 14 cases high-risk for 18-trisomy syndrome,and another 1 case with cyst of umbilical cord and multi form.We can find out parts of abnormal fetus by serum screening and can best to find out other fetus multi form.Prenatal screening is the one method to reduce the birth defect rate,but we can not find out all of the abnormal fetus.更多还原