中国2003年出生缺陷高发区和低发区重大体表畸形患病率监测

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目的了解中国出生缺陷高发区目前常见体表出生缺陷的患病水平以及主要畸形种类。方法选择出生缺陷高发的山西省5个县市和出生缺陷低发的江苏省无锡地区作为研究现场,对研究地区2003年所有孕满20周以上的出生进行以人群为基础的出生缺陷监测,分析和比较高低发地区24种体表重大出生缺陷的患病情况。结果山西省4个县体表重大缺陷患病率为232.4/万,神经管畸形患病率138.7/万,显著高于太原市区相应的患病率(75.3/万和28.2/万)。无锡市区和锡山区(原无锡县)之间各种出生缺陷患病率差异无统计学意义。太原市区神经管畸形(NTDs)出生患病率是无锡市区(4.6/万)的6.1倍;山西省4个县无脑儿、脊柱裂、脑膨出、脑积水、腭裂和多指畸形的出生患病率显著高于无锡市区,NTDs的出生患病率是无锡市区的30.2倍。高发地区NTDs患病率与既往监测资料相比未见明显下降趋势。如果从孕满28周开始监测,则高发地区出生患病率较孕满20周监测率下降31.8%。结论NTDs仍然是山西省最常见的出生缺陷。山西省部分地区NTDs的患病率仍然是国内乃至世界最高的患病水平。NTDs出生患病率在部分出生缺陷高发地区未见明显的下降趋势。监测方法和产前诊断对于体表重大出生缺陷患病率具有较大影响。 Objective To understand the current prevalence of birth defects and the prevalence of major deformities in China with high prevalence of birth defects. Methods Five counties and cities with high birth defects in Shanxi Province and Wuxi with low birth defects were selected as research sites. Population-based birth defects monitoring and analysis were conducted on all births more than 20 weeks pregnant in 2003 in the study area And compare the prevalence of 24 major birth defects on the surface of the body in high and low incidence areas. Results The prevalence of major surface defects was 232.4 / 000 in four counties of Shanxi Province, and the prevalence of neural tube defects was 138.7 / million, significantly higher than the corresponding prevalence rates in Taiyuan (75.3 / million and 28.2 / million). There was no significant difference in the prevalence of various birth defects between urban Wuxi and Xishan (former Wuxi). The prevalence of NTDs in Taiyuan was 6.1 times that of downtown Wuxi (4.6 / 10,000). No brain, spina bifida, encephalocele, hydrocephalus, cleft palate and multiple fingers were found in 4 counties in Shanxi Province The prevalence of deformity was significantly higher than that of Wuxi. The prevalence of NTDs was 30.2 times that of Wuxi. The prevalence of NTDs in high incidence areas compared with the previous monitoring data showed no significant downward trend. If monitoring is started from the 28th week of pregnancy, the prevalence at birth is 31.8% lower than that of the 20 weeks of pregnancy. Conclusion NTDs are still the most common birth defects in Shanxi Province. The prevalence of NTDs in some areas of Shanxi Province remains the highest in China and even in the world. The prevalence of NTDs at birth in part of the high incidence of birth defects no significant downward trend. Monitoring methods and prenatal diagnosis have a major impact on the prevalence of major birth defects on the body surface.
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