Objective: Tracking the information on 1.69 million fetal cases across Guangxi Zhuang Autonomous Region (Guangxi) so as to study the occurrences of total and major birth defects in order to evaluate the ability on related prevention and control programs in Guangxi. Methods: Using the self-developed "Gui Women's System" to establish a database of 1.69 million fetal cases in Guangxi and to analyze the distribution of time, space and population, as well as the outcomes of pregnancy, using the big data. Results: During the 29 months of observation, the overall live birth rate was 99.25%, with stillbirth rate during pregnancy as 0.44%, stillbirth rate during birth as 0.02%, and the 0-6 days mortality rate as 0.14%. The total detection rate on birth defects was 197.63/10 000; the incidence rate was 103.04/10 000, the birth rate was 102.55/10 000. The overall discovery rate of major birth defects was 48.33/10 000, with the incidence rate as 783 000, the birth rate as 0.58/10 000. The discovery rates of major birth defects in 14 cities were between 35 and 68/10 000, and the birth rate dropped significantly to less than 1.00 in 10 000. Nationalities showed that the number of pregnant women with birth defects more than 50 000 would include Hui (9.68/10 000), Yao (9.57/10 000), and Jing (9.37/10 000). With the increasing age of gestation, number of birth defects, incidence of major birth defects also increased. Ninety-five percent of the major birth defects were found within <28 weeks and with the top 5 kinds of major birth defects as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000). The top 5 major birth defects appeared as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000). Conclusion: Programs leading to increase the rate on discovery of major birth defects were fundamental in effectively reducing the major birth defects.
目的： 跟踪广西壮族自治区（广西）169万例胎儿个案信息，研究总出生缺陷与重大出生缺陷的发现、发生和出生情况，评估出生缺陷预防控制能力。 方法： 利用2017年1月1日至2019年5月31日期间，广西自主研发的《桂妇儿系统》收集并建立的169万例胎儿个案信息数据库，进行时间、空间和人群分布及妊娠结局分析。 结果： 研究期间，广西胎儿活产率为99.25%，死胎率为0.44%，死产率为0.02%，0~6 d死亡率为0.14%；总出生缺陷发现率为197.63/万、发生率为103.04/万、出生率为102.55/万；重大出生缺陷发现率为48.33/万、发生率为7.29/万、出生率为0.58/万；14个市重大出生缺陷发现率在35.00/万~68.00/万之间，出生率<1.00/万；重大出生缺陷发生率>5.00/万的民族为回族（9.68/万）、瑶族（9.57/万）、京族（9.37/万）；孕龄增加，总出生缺陷与重大出生缺陷发生概率增加；95%的重大出生缺陷可在28周内发现；重大出生缺陷前5位顺位为复杂性先天性心脏病（9.11/万）、α重型地中海贫血（8.36/万）、21-三体综合征（7.85/万）、β重型地中海贫血（5.32/万）、胎儿水肿综合征（4.92/万）。 结论： 广西地区总出生缺陷发现率、发生率和出生率均呈上升之势，重大出生缺陷发现率呈上升趋势，发生率和出生率均呈下降趋势，且存在地区和民族差异。.
Keywords: Big data; Birth defects ordering; Effectiveness analysis; Medical intervention; Pregnancy outcome.