摘要
目的采用二联法（母血清甲胎蛋白和β-人绒毛膜促性腺激素）对浙南地区妊娠中期孕妇进行唐氏综合征筛查，评估其筛查效率。方法对本地区孕妇根据知情同意原则在妊娠中期取羊水进行常规二联唐氏综合征筛查，筛查出的高风险（≥1：270）孕妇采用羊膜腔穿刺、羊水细胞培养和染色体核型分析进行产前诊断。通过本地区的三级妇幼保健网对本地区行产前唐氏综合征筛查或未行筛查的孕母分娩的新生儿进行临床随访，对可疑唐氏综合征的新生儿行外周血染色体核型分析进行诊断。正态分布计量资料采用均数±标准差（x±s）表示，组间差异比较采用两独立样本t检验；计数资料用率表示，组间差异比较采用x2检验。唐氏综合征的危险概率用随机筛查软件进行统计分析。结果2007年10月至2010年5月，本地区共32188例单胎妊娠孕妇接受筛查，唐氏综合征高风险者为1130例，低风险31058例。高风险者中90．79％（1026／1130）接受产前诊断，确诊7例唐氏综合征胎儿均引产终止妊娠；另外104例未接受产前诊断的孕妇分娩1例唐氏综合征患儿。31058例低风险者中新生儿出生后确诊唐氏综合征6例，发生率0．19‰。接受产前筛查者中唐氏综合征患病率为0．43‰（14／32188）。妊娠中期二联唐氏综合征筛查检出率为57．14％（8／14），假阳性率为3．48％（1122／32188），阳性预测值为7．08‰（8／1130）。同期，由于各种原因未接受唐氏综合征产前筛查的孕妇达到23813例，分娩唐氏综合征患儿15例，患病率0．63‰。与接受筛查者中的患病率（O．43‰）差异无统计学意义（x2=1．004，P〉0．05）。本地区唐氏综合征总体患病率为0．52‰（29／56001）。结论产前筛查和诊断可以减少唐氏综合征患儿出生。但本研究中妊娠中期二联唐氏综合征筛查法的检出率、假阳性率和阳性预测值均较低，可能与本研究所采用的正常值范围并不适用于中国人群有关。
[Abstract] Objective To evaluate the efficiency of second trimester screenings for Down syndrome using alpha-fetoprotein and ^-human chorionie gonadotropin duplex. Methods Pregnant women of south Zhejiang were screened for Down syndrome fetuses by maternal alpha-fetoprotein and [3-human chorionic gonadotropin duplex during second trimester. The high-risk women underwent prenatal diagnosis by amniocentesis, cell culture and chromosome analysis. The newborns followed up by the maternal and child tertiary health care network and suspected to have Down syndrome were diagnosed by peripheral blood chromosome analysis. Statistical analysis was performed using twosample t test and X2 test. Risk probability of Down Syndrome was calculated by random screening software. Results From Oct. 2007 to May 2009, 1130 of 32 188 singleton pregnant women in second trimester received prenatal screening were discovered with high risk （≥：270）. Prenatal diagnosis was performed in 90.79% cases （1026/1130） of high risk women and seven fetuses were diagnosed as Down syndrome by amniotic fluid chromosome analysis, and the pregnancies were terminated. Among the other 104 cases without prenatal diagnosis one Down syndrome baby was delivered. Six of 31 058 pregnancy women with low risk delivered Down syndrome babies with the incidence of Down syndrome of 0.19‰ （6/31 058）. Detection rate of second trimester screenings for Down syndrome using alpha-fetoprotein and β-human chorionic gonadotropin duplex was 57.14‰ （8/14）. False positive rate was 3.48% （1122/32 188）. Positive predictive value was 7.08‰ （8/1130）. During the same period, there were 23 813 pregnant women who didn＇t receive screening and 15 fetuses with Down syndrome were diagnosed after birth. There was no statistical difference in the prevalence rate of Down syndrome between those pregnant women who received prenatal screening or not [0.43‰ （14/32 188） vs 0.63‰ （15/23 813）, X2 =1. 004, P〉0. 051. The prevalence of Down syndrome was 0.52‰ （29/56 001） in this area. Conclusions The prenatal screening and diagnosis could reduce the birth rate of Down syndrome patients. However, detection rate, false positive rate and positive predictive value of which were lower than reports in other studies. It＇s possible that the reference data might be not suitable for Chinese.
出处
《中华围产医学杂志》
CAS
2011年第12期716-719,共4页
Chinese Journal of Perinatal Medicine
基金
瑞安市科技局课题（20110203）
关键词
唐氏综合征
产前诊断
新生儿筛查
随访研究
Down＇s syndrome
prenatal diagnosis
Neonatal screening
Follow up studies
