江苏省26803例围生儿出生缺陷监测

目的分析本地区人群出生缺陷发生情况和类型，为今后制定出生缺陷预防措施提供科学依据。方法对2002年6月-2004年8月期间纳入出生缺陷监测项目并随访分娩结局的围生儿（包括死胎、死产、病理性引流产、新生儿死亡）26803例中的出生缺陷类型及地域分布进行分析。结果人群出生缺陷总发生率为134．31／万（360／26803）；360例出生缺陷中，71．67％（258／360）为产前诊断发现的，28．33％（102／360）为随访发现。出生缺陷前5位为先天性心脏病、唇腭裂、先天性脑积水、染色体异常、神经管缺损；按系统分类结果显示，面颈部畸形发生率最高，占3．21‰（86／26803），其次为神经系统畸形，占2．72‰（73／26803），循环系统和呼吸系统畸形占1．98‰（53／26803），苏南、苏中、苏北围生儿肌肉骨骼系统出生缺陷发生率比较，差异有统计学意义（P〈0．05）。结论减少出生缺陷的工作重点在预防，应加强优生知识的宣传，提高产前检查质量及产前诊断技术，以降低围生儿出生缺陷的发生率，提高出生人口素质。

Birth defects in 26 803 perlnatals in Jiangsu Province

Objective To characterize the distribution patterns of birth defects in Jiangsu Province, 2002-2004. Methods Birth defects surveillance data in the period of June 2002-Augnst 2004 were analyzed. Pregnancy terminations due to prenatal diagnosis, eases ascertained in stillbirths and livebirths were included. Results The overall prevalence rate of birth defects was 134. 31/10 000 births. The first 6 common birth defects were congenital heart disease, total cleft lip and palate, congenital hydrocephalus, chromosomal abnormalities, and neural tube defects. Malformation in face and neck had the highest rate （ 3.21 ）, followed by nervous system （2. 72 ）, and circulatory and respiratory systems （ 1.98 ）. The prevalence rate of musculoskeletal birth defects in the Southern （1.06）, Central （2. 24 ）, and North （2. 71 ） of Jiangsu Prov/nce were significantly different. Of the 360 cases of birth defects, 258 cases （71.67 % ） were diagnosed prenatally, and the other 102 eases post-natally （28.33 % ）. Conclusion Musculoskeletal malformations distributed differently Jiangsu Province, and more than 70 % of eases of birth defects were identified in the prenatal period.