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[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。
[Objective] To understand the epidemiological characteristics of congenital missing finger (toe) and perinatal outcome in children. [Methods] According to the congenital malformations, the congenital missing fingers (toes) collected from China Birth Defects Monitoring Network were divided into 3 categories: simple missing finger toe, congenital limb deformity, syndrome with other non-limb deformities, According to perinatal gender, place of birth (city / township) to calculate the incidence. And analysis of children’s gestational age at birth, birth weight, perinatal outcome and perinatal mortality. [Results] A total of 1039 cases were detected from 4489692 cases of perinatal infants during the study period, with a total incidence of 2.31 / million. Among them, the simple deformity of the lameness and syndrome The incidence rates were 0.63 / million, 0.65 / million and 1.03 / million, respectively. The incidence of perinatal absence (toe) was 2.57 per million in males and 1.79 per females in urban areas; 2.21 per 10,000 in urban areas and 2.46 per thousand in rural areas. Among infants, 26.23% were under full term delivery, 37.00% were born with low birth weight, and 41% were perinatal death. Perinatal mortality was 12.81%, 26.87% and 67.03% for simple missing digits, missing fingers and deformities of limbs and syndromes, respectively. Of the children who died, 79.67% died of missing finger (toe) deformity. [Conclusion] The incidence of congenital anterior deformity in our country is higher than that of foreign reports, there are more males than females. Children with high perinatal mortality, and associated with the number and severity of deformity related.