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目的探讨江苏省出生缺陷发病情况及妊娠结局。方法采用分层抽样和整群抽样相结合的多阶段抽样方法,在江苏省抽取东西南北中城市与农村95个点,各项目点抽样1年,妊娠12周内的孕妇全部参与,进行以人群为基础的出生缺陷调查,并进行出生后半年～4年的随访。结果研究孕妇26803例,人群参与率98.1%,三级随访率达96.4%。正常妊娠分娩率为96.33%,流产1.40%,死胎0.34%,死产0.06%,引产0.37%,另外新生儿死亡率为33.6/万,婴儿死亡43.6/万,存活但合并畸形71.3/万。确诊出生缺陷儿282例,其中先天性心脏病发生率为15.0万,总唇腭裂为10.1/万,脑积水为9.7/万,染色体异常发生率为9/万,非窒息导致的脑瘫为8.2/万,眼部畸形8.2/万,神经管缺陷发生率为7.5/万等。结论进行以人群为基础的出生缺陷调查及随访是明确产前诊断工作重点、评价实施出生缺陷干预效果的重要方法。
Objective To investigate the incidence of birth defects and pregnancy outcome in Jiangsu Province. Methods A multistage sampling method combining stratified sampling and cluster sampling was used to collect 95 points from cities in the east, north, south, north and east of Jiangsu Province and all the pregnant women within one week of each sampling point and within 12 weeks of pregnancy. Based birth defects survey, and follow-up from six months to four years after birth. Results The study of 26,803 pregnant women, the crowd participation rate was 98.1%, three-level follow-up rate of 96.4%. Normal pregnancy delivery rate was 96.33%, miscarriage 1.40%, stillbirth 0.34%, stillbirth 0.06%, induction of labor 0.37%, another neonatal mortality rate 33.6 / million, 43.6 / million infant deaths, survival but combined deformity 71.3 / million. 282 cases of birth defects were diagnosed, of which the incidence of congenital heart disease was 15.0 million, the total cleft lip and palate was 10.1 / million, the hydrocephalus was 9.7 / million, the incidence of chromosomal abnormalities was 9 / 10,000, and the non-asphyxiated cerebral palsy was 8.2 / Million, ocular deformity 8.2 / million, the incidence of neural tube defects 7.5 / million. Conclusion The investigation and follow-up of population-based birth defects are the key points to clarify the prenatal diagnosis and evaluate the effect of birth-defect intervention.