中孕期母血清AFP和free β-HCG亚基筛查胎儿染色体非整倍体异常的研究  

Prenatal screening of fetal chromosomal aneuploidy using co-testing of serum AFP and free β-HCG during the second trimester:A multi-center retrospective study

作　　者：陈益明 张闻 王昊 王姗 梅瑾 顾琳媛 窦琳琳[4] 李慧[2] 何海雅 连结静 CHEN Yi-ming;ZHANG Wen;WANG Hao;WANG Shan;MEI Jin;GU Lin yuan;DOU Lin-lin;LI Hui;HE Hai-ya;LIAN Jie jing(Department of Prenatal Diagnosis （screening） Center, Hangzhou Women＇s Hospital, Hangzhou, Zhejiang 310008 , China)

机构地区：[1]杭州市妇产科医院产前诊断(筛查)中心,浙江杭州310008 [2]浙江大学医学院附属妇产科医院检验科 [3]杭州市余杭区妇幼保健院检验科 [4]浙江萧山医院检验科 [5]杭州市富阳区妇幼保健院检验科

出　　处：《中国预防医学杂志》2018年第1期13-17,共5页Chinese Preventive Medicine

基　　金：2018年浙江省医药卫生学科平台项目(临床研究-36);杭州市卫生科技计划(一般)项目(2017A55)

摘　　要：目的评价中孕期母血清甲胎蛋白(alpha-fetoprotein,AFP)和游离人绒毛膜促性腺激素β亚基(freeβsubunit of human chorionic gonadotropin,freeβ-HCG)二联法产前筛查胎儿染色体非整倍体异常的效果。方法采用多中心回顾性研究方法,分析2007年10月至2014年9月,在杭州市五家产前筛查中心自愿接受产前筛查的437 438例孕妇的出生缺陷监测资料及杭州市各区、县妇幼保健院上报的产前筛查随访结果资料。评估唐氏综合征(Down′s Syndrome,DS)的风险值。结果筛查高风险孕妇中确诊DS胎儿130例、18三体综合征37例、其他非整倍体异常11例;在随访的筛查低风险孕妇中确诊新生儿DS 52例、18三体综合征9例、其他非整倍体异常7例。二联法产前筛查的灵敏度分别为71.43%(130/182)、80.43%(37/46)、61.11%(11/18);假阳性率分别为3.21%(14 050/437 256)、0.14%(609/437 392)、3.39%(14 815/437 420);筛查结果为高风险的孕妇,其检出DS、18三体综合征、其他非整倍体异常胎儿的概率高于低风险者,两者差异均有统计学意义(P<0.01)。结论血清学AFP、freeβ-HCG二联产前筛查不仅能筛查DS、18三体综合征,还能筛查其他非整倍体异常。由于母血清产前筛查只是一种筛查试验,仍存在一些假阴性或假阳性病例,应做好产前筛查结果的遗传咨询和产前诊断等后续工作。Objective To assess the feasibility of serum alpha-fetoprotein（AFP）and freeβsubunit of human chorionic gonadotropin（freeβ-HCG）co-testing for the prenatal screening of fetal chromosomal aneuploidy during the second trimester.Methods A retrospective multi-centre study was conducted among a cohort of 437 438 pregnant women who received prenatal sreening in 5 prenatal screening centers and were reported from other maternal and child health care centers in Hangzhou during October 2007 and September 2014,birth defects monitoring data as well as prenatal screening follow-up visiting data were collected and analyzed.Risks 2T prenatal screening analyzing software was used to evaluate the risk of Down′s syndrome（DS）.Results 130 DS cases,37 cases with 18 trisomy syndrome and 11 cases with other aneuploidies were confirmed among highrisk pregnant women by sceening,while 52 DS cases,9 cases with 18 trisomy syndrome and 7 with other aneuploidies were confirmed among low-risk pregnant women by follow-up screening.The sensitivities of the prenatal screening were 71.43%（130/182）for DS cases,80.43%（37/46）for 18 trisomy syndrome and61.11%（11/18）for other aneuploidies with the false positive rates of 3.21%（14 050/437 256）,0.14%（609/437 392）and 3.39%（14 815/437 420）,respectively.The detection rates of DS,18 trisomy syndrome and other aneuploidies were higher among high-risk pregnant women than those with low-risk,the differences were statistically significant（P〈0.01）.Conclusions Serum AFP and free β-HCG co-testing can be used for the screening of DS,18 trisomy syndrome and even other aneuploidies among pregnant women.However,serological prenatal screening is by all means a screening test with false positive or negative results,therefore,genetic counseling of prenatal screening and other related works should be recommended.

关 键 词：中孕期 产前筛查 甲胎蛋白 游离人绒毛膜促性腺激素β亚基 唐氏综合征 18三体综合征 非整倍体 

分 类 号：R714.55[医药卫生—妇产科学]