深圳市2189例出生缺陷的畸形分布与诊断方法

目的:调查深圳市出生缺陷的发生状况、畸形分布及缺陷的主要诊断方法,为减少出生缺陷制定预防保健措施提供依据。方法:按深圳市统一的监测方案,对2007年度深圳市医院孕20周～产后7天内(包括活产、死胎、死产、引产及产后7天内死亡)分娩的围产儿进行逐一出生缺陷筛查并调查其诊断方法。结果:136902例围产儿出生缺陷发生率为15.99‰,活产畸形率为13.16‰,存活占缺陷的81.77%,足月分娩为71.45%,先心合并重大体表缺陷发生率为9.85‰,占缺陷的61.62%。单畸形发生率为11.11‰,占缺陷69.53%;二种以上畸形发生率为4.87‰,占缺陷30.47%。前5位主要出生缺陷构成为:先天性心脏病24.26%,多指/趾12.15%,小耳/外耳畸形10.14%,总唇裂9.91%,足外翻6.08%。先心、多指/趾、总唇裂、足外翻、尿道下裂的缺陷发生率均高于全国监测的发生率。出生后临床诊断66.69%,B超诊断31.97%。B超对先天性心脏病、脑积水、脊柱裂、无脑儿、肾脏异常等疾病的检出率较高,分别是75.52%、69.50%、60.71%、77.78%、84.62%,对尿道下裂、指/趾畸形、外耳畸形、足外翻等畸形检出率较低,分别为1.10%、4.94%、4.05%、5.26%,单腭裂36例未检出。结论:非单一的体表检查缺陷发生率高;重点加强重大体表缺陷28周前的产前诊断,减少重大体表缺陷的出生;急需胎儿、新生儿内外、专科的建立,而不是一味地引产减少缺陷;超声在产前胎儿影像学诊断上有一定的局限性,加强超声检查告知义务,减少医疗纠纷;不断提高监测水平,为制定出生缺陷的预防措施以及评价其效果提供依据。

Deformity distribution and diagnosis measure of 2 189 birth deflect in Shenzhen city

Objective:To research cause of birth defect,deformity distribution and mainly diagnosis measure to reduce birth defect through institute health care measures based on this research.Methods:The defect of perinatal births one by one in all Shenzhen hospital with gestational age of at least 20 weeks were screened,including live birth,stillbirth,induced abortion and neonatal death in year 2007 according to Shenzhen uniform surveillance scheme to research the diagnosis measure.Results:Incidence of birth defect was 15.99‰(2 189/136 902) among 136 902 births.Live deformity was 13.16‰(1 790/135 937),live birth defect rate was 81.77%(1 790/2 189).The rate of defect of mature puerperal was 71.45%(1 564/2 189).Incidence of birth defect in congenital heart disease and easily observed group were 9.85‰(1 349/136 902),accounting for 61.62%(1 349/2 189) in all kind of defects.Incidence of single defect was 11.11%(1 522/136 902),accounting for 69.53%(1 522/2 189)in all kinds of defects.Incidence of multi-defect was 4.87%(667/136 902),accounting for 30.47%(667/2 189).The incidence of first five defect in Shenzhen as congenital heart disease was 24.26%(531/2 189),polydactyly 12.15%(266/2 189),anotia/microtia 10.14%(222/2189),cleft lip 9.91%(217/2 189),talipes calcaneovalgus 6.08%(133/2 189) were all higher than country average level.The positive rate of clinic diagnosis was 66.69%(1 460/2 189),prenatal ultrasonography was 31.97%(700/2 189).The positive rate of congenital heart disease,hydrocephalus,spina bifida,anencephalus,urinary system malformation by ultrasonography were higher,the rate separated as 75.52%,69.50%,60.71%,77.78%,84.62%,and lower in hypospadias,syndactyly,microtia and talipes calcaneovalgus,the rate separated as 1.10%,4.94%,4.05%,5.26%.36 cleft palate were un-checked.Conclusion:①Un-unitary body check causes high rate of defect.②To strengthen prenatal detection of esily observed group in first and second trimerster is important.③To bulid professional internal medicine and chirurgery clinic for newborn is better than labor induced.④There are some limits in diagnosis by prenatal ultrasonograph.Take responsiability of check notice will reduce medical dissension.⑤To improve surveillance level could provide basis for establishing institute health care measures and evaluating its effect.