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目的了解宁波地区辅助生育单胎孕妇早中孕整合筛查血清学指标中位数分布情况,评价整合筛查方案在辅助生育孕妇中的应用价值。方法回顾性分析2012年1月-2015年12月,在宁波市妇女儿童医院产前诊断中心参加整合筛查的556例辅助生育孕妇筛查数据作为试验组。随机选取同期参加整合筛查的5 000例单胎自然受孕孕妇作为对照组。采用秩和检验比较两组孕妇血清学筛查指标检测结果的差异,同时按早中孕整合筛查方案和孕中期三联筛查方案分别计算试验组发生唐氏综合征(DS)和18-三体综合征(ES)的风险值,根据妊娠结局随访资料对两种筛查方案筛查效能进行比较。结果试验组孕妇采用整合筛查方案筛查出12例DS高风险、11例神经管畸形(NTD)高风险,筛查阳性率4.14%。高风险孕妇经细胞染色体核型分析确诊DS 2例,经妊娠结局随访发现自然流产、死胎、先天性心脏病等其他不良妊娠结局6例;低风险孕妇无DS或ES漏筛病例发生。辅助生育整合筛查方案检出率、假阳性率、阳性预测值为100%、1.80%、1∶6,三联筛查方案分别为50%、6.12%、1∶36。两组妊娠相关血浆蛋白A中位数倍数(PAPP-A MOM)差异有统计学意义(Z=6.472,P=0.000),孕早期游离β绒毛膜促性腺激素中位数倍数(Free-β-h CG MOM)差异有统计学意义(Z=4.825,P=0.000),孕中期Free-β-h CG MOM差异有统计学意义(Z=2.434,P=0.015),甲胎蛋白中位数倍数(AFP MOM)差异有统计学意义(Z=11.422,P=0.000),游离雌三醇中位数倍数(u E3MOM)差异无统计学意义(Z=1.360,P=0.174)。结论早中孕整合筛查在辅助生育的孕妇中应用具有较高的筛查效能,且筛查高风险与染色体异常以及其他不良妊娠结局发生有较强相关性,但需在积累一定筛查量的基础上引入适当的校准系数对本地区辅助生育孕妇进行筛查风险评估。
Objective To understand the median distribution of serological markers for early pregnancy, mid-pregnancy and twin pregnancy in assisted reproduction in Ningbo and to evaluate the value of integrated screening in pregnant women assisted reproductive. Methods Retrospective analysis from January 2012 to December 2015, 556 cases of assisted reproductive screening pregnant women participated in integrated screening in Ningbo Women and Children Hospital Prenatal Diagnosis Center as experimental group. Randomly selected during the same period to participate in integrated screening of 5 000 cases of singleton naturally conceived pregnant women as a control group. Rank test was used to compare the difference of serum screening test results between the two groups. At the same time, the incidence of Down Syndrome (DS) and 18-Tris Body syndrome (ES) values of risk, according to the follow-up of pregnancy outcome of the two screening programs screening efficacy comparison. Results The pregnant women in experimental group screened 12 high risk DS patients and 11 high risk NTD patients by integrated screening test. The screening positive rate was 4.14%. High-risk pregnant women were diagnosed DS 2 cases by cell karyotype analysis, 6 cases of other adverse pregnancy outcomes such as spontaneous abortion, stillbirth and congenital heart disease were found after pregnancy outcome. No cases of DS or ES missed by low risk pregnant women. The positive rates of false positive rate and positive pregnancy test were 100%, 1.80%, 1: 6 and 50%, 6.12% and 1:36 respectively. There were significant differences in PAPP-A MOM between the two groups (Z = 6.472, P = 0.000), Free-β-PGFR in the first trimester of pregnancy, h CG MOM) (Z = 4.825, P = 0.000). There were significant differences in CGM of Free-β-h during the second trimester (Z = 2.434, P = 0.015) (Z = 11.422, P = 0.000). There was no significant difference in the median of free estriol (u E3MOM) between two groups (Z = 1.360, P = 0.174). Conclusion Integrated early screening screening in pregnant women assisted reproductive screening has a high screening efficiency, and screening of high risk and chromosomal abnormalities and other adverse pregnancy outcomes have a strong correlation, but the need to accumulate a certain amount of screening Based on the introduction of the appropriate calibration coefficients for screening pregnant women assisted reproductive risk assessment.