【摘要】 [目的]了解先天性缺指(趾)的流行病学特征和患儿围产期结局。[方法]根据伴发畸形情况把中国出生缺陷监测网络收集到的先天性缺指(趾)分为单纯缺指(趾)、伴发四肢畸形、综合征(合并其他非肢体畸形)3类,按围产儿性别、出生地(城/乡)计算其发生率。并分析患儿的出生孕周、出生体重、围产期转归和围产期死因。[结果]研究期间从4489692例围产儿中检出缺指(趾)1039例,总发生率为2.31/万,其中单纯缺指(趾)、缺指(趾)伴发肢体畸形和综合征畸形的发生率分别为0.63/万、0.65/万和1.03/万。男性围产儿缺指(趾)的发生率为2.57/万,女性为1.79/万;城镇2.21/万,农村2.46/万。患儿中未足月分娩者占26.23%,低出生体重者占37.00%,围产期死亡占41%。单纯缺指(趾)、缺指(趾)伴发肢体畸形和综合征畸形的围产期病死率分别为12.81%,26.87%和67.03%。死亡患儿中,79.67%死于缺指(趾)畸形。[结论]我国先天性缺指(趾)畸形发生率高于国外报告,男性多于女性。患儿围产期病死率高,与伴发畸形的多少和严重程度有关。更多还原

【Abstract】 [Objective]To study the epidemiological features of perinatal congenital ectrodactyly and their outcomes in China.[Methods]Data used in this study were abstracted from the Chinese Birth Defects Monitoring Network.Cases with ectrodactyly were grouped into the isolated(ectrodactyly only),ectrodactyly with limb defects and ectrodactyly with non-limb defects according to their status of associated malformations.Prevalence rates were calculated by sex and by birth area(urban versus rural).Of the affected,gestational age,birth weight,perinatal outcome and causes of death were analysed.[Results]There were 1063 newborns with congenital ectrodactyly identified among 4 489 692 births,then the overall prevalence rate was 2.31/10 000,rates of the isolated,ectrodactyly with limb defecs and syndromic ectrodactyly were 0.63,0.65 and 1.03 per 10 000 births respectively.The rates in male and female births,in urban and rural area,were 2.57/10 000 and 1.79/10 000,2.21/10 000 and 2.46/10 000 respectively.Of the infants with ectrodactyly,preterm birth,low birth weight and perinatal death accounted for 26.23%,37.0% and 41.0% respectively.The perinatal fatality rate of the isolated ectrodactyly,ectrodactyly with limb defects and syndromic ectrodactyly were 12.81%,26.87% and 67.03% correspondingly.For those affected infants died within perinatal period,79.67% of them died of this malformation.[Conclusion]The prevalence of ectrodactyly in China was higher than those in foreign countries.Significant male excess was identified compared to females.The infants affected by ectrodactly have a high perinatal mortality which is increased with the numbers and the severity of associated malformations.更多还原