摘要
目的:用孕妇血清标记物和B超查颈后透明层进行唐氏综合征产前筛查,探索适合南方局部地区的产前筛查技术体系。
方法:应用时间分辨荧光免疫分析技术,对1118例妊娠妇女血清标本进行PAPP-A、AFP和Freeβ-hCG、μE3的定量检测和B超查颈后透明层。
结果:(1)对1118例妊娠妇女进行产前筛查,检出唐氏综合征高危孕妇80例,其中有1例证实为21-三体综合征。(2)经对筛查资料的分析,得出南方局部地区各孕周血清标记物正常中位数值,与PE公司内嵌中位数值比较,本地区人群与PE公司提供的芬兰人群和英国人群中得出的PAPP-A、AFP和Freeβ-hCG、μE3中位数,结果均无明显差异(P＞0.05)。(3)9-13孕周,PAPP-A值异常病例中,降低组与对照组比较,自然流产、稽留流产、胎儿畸形与正常对照组之间,有显著性差异,升高组与对照组比较,妊高征、双活胎与正常对照组之间有极显著性差异(P＜0.01);14-21孕周,AFP值异常中,降低组与对照组比较,稽留流产、胎死宫内与正常对照组之间,有极显著性差异(P＜0.01),升高组与对照组比较,自然流产、稽留流产、胎死宫内、胎儿畸形、妊高征、双活胎、一胎死产一胎活产与正常对照组之间,有极显著性差异(P＜0.01);9-21孕周,Freeβ-hCG值异常中,降低组与对照组比较,自然流产、稽留流产、胎死宫内、胎儿畸形与正常对照组之间,有极显著性差异(P＜0.01),升高组与对照组比较,胎儿畸形、妊高征、双活胎与正常对照组之间,有极显著性差异(p＜0.01);14-21孕周,μE3值异常中,降低组与对照组比较,IUGR、胎死宫内、胎儿畸形、妊高征、双胎中结局一死一活与正常对照组之间,有极显著性差异(P＜0.01);9-13孕周,NT结局异常中,升高组与对照组比较,胎儿畸形、自然流产、双胎中结局一死一活与正常对照组之间,有极显著性差异(P＜0.01)。
结论:(1)建立了南方局部地区孕妇血清标志物PAPP-A、AFP和Freeβ-hCG、μE3各孕周段正常中位数值及正常考值范围,为本地区产前筛查提供参考数据。(2)PAPP-A、AFP和Freeβ-hCG、μE3、NT的过高或过低与不良妊娠结局之间存在一定的相关性。(3)联合应用PAPP-A、AFP和Freeβ-hCG、μE3、NT筛查唐氏综合征胎儿同时,于孕早期和孕中期筛查预测异常妊娠及不良妊娠结局可为临床提供可行的参考诊断依据、其无创手段也容易被孕妇接受。
Objective:To explore a technological system suitable for the Down's syndrome prenatal screening in some south province,using maternal serum markers.
Methods:Five maternal serum markers,PAPP-A、AFP、Freeβ-hCG、μE3 and NT of 1118 cases were quantitatively detected by the time resolved fluorescent immunoassay technology。
Results:(1) 80 cases in 1118 pregnant women were screened as high risk for Down's syndrome,and 1 was verified as trisomy 21 through prenatal diagnosis。
(2) The normal medians of maternal serum markers on every gestational week in some south population were obtained。The medians of PAPP-A、AFP、Freeβ-hCG andμE3 have no significant differences(P＞0.05) between our population and those of Finnish and British population offered by PE company。(3)The incidences of spontaneous abortion、missed abortion、fetal malformation in the PAPP-A lower group were significantly higher than those of the control group between 9 and 13 gestational weeks.Oppositely,in the PAPP-A evaluated group,the incidences of pregnancy-induced hypertension and twin pregnancy were significantly higher than those in the control group;Between 14 and 21 gestational weeks;the incidences of missed abortion and intrauterine fetal demise in the AFP lower group were significantly higher than those of the control group,in the AFP evaluated group,the incidences of spontaneous abortion、missed abortion、fetal malformation、pregnancy-induced hypertension、twin pregnancy、twin pregnancy with one dead fetal were significantly higher than in the control group;Between 9 and 21 gestational weeks,in the Freeβ-hCG lower group,the incidences of spontaneous abortion、missed abortion、intrauterine fetal demise、fetal malformation were significantly higher than in the control group;In the Freeβ-hCG evaluated group,the incidences of fetal malformation、pregnancy- induced hypertension、twin pregnancy were significantly higher than in the control group。The incidences of intrauterine growth restriction、intrauterine fetal demise、fetal malformation、pregnancy-induced hypertension、twin pregnancy with one dead fetal in theμE3 lower group were significantly higher than those of the control group;the incidences of spontaneous abortion、fetal malformation、twin pregnancy with one dead fetal in the NT lower group were significantly higher than those of the control group between 9 and 13 gestational weeks.
Conclusions:(1) The medians and normal reference intervals of maternal serum markers:PAPP-A、AFP、Freeβ-hCG andμE3 of each gestational week in some south population were established,offering reference data for other local prenatal screening programs。(2) Excessive higher or lower values of PAPP-A、AFP、Freeβ-hCG、μE3 and NT imply certain abnormal pregnancies,and the test results will be benefit to clinical prognostic evaluation。(3) Combined test of PAPP-A、AFP、Freeβ-hCG、μE3 and NT may be an effective and easily-accepted technique for Down's syndrome screening to the first trimester and second trimester pregnant women。
引文
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