中国人群裂手裂足畸形的流行病学特征

Prevalence of Congenital Split Hand/Split Foot Malformation in Chinese Population

目的探讨中国人先天性裂手/裂足畸形(SHFM)的流行病学特征和临床特点。方法通过中国出生缺陷监测网络获得SHFM研究资料,把病例分为单发(仅有SHFM或者伴发其他肢体畸形)和综合征(SHFM伴发其他非肢体畸形)两类,分别按围产儿性别、居住地(城/乡)计算其发生率。并分析患儿的出生孕周、出生体质量、围产期转归和畸形发生部位。结果在4489692例围产儿中诊断出SHFM病例736例,总发生率为1.64/104,单发和综合征SHFM的发生率分别为0.64/104和1.00/104。男性围产儿SHFM发生率为1.79/104,女性为1.25/104;城镇1.51/104,乡村1.86/104。SHFM患儿中,未足月分娩和低出生体质量分别占30.20%和43.93%。单发和综合征SHFM的围产期病死率分别为24.74%和66.59%,总病死率为50.27%。SHFM畸形以发生在上肢多见。结论我国SHFM发生率高于国外报道。较高的围产期病死率与伴发畸形的严重程度有关。

Objective To study the epidemiological and clinical features of congenital split hand/split foot malformation（SHFM） in Chinese population.Methods Data used in this study were provided by the Chinese Birth Defects Monitoring Network.The SHFM cases were categorized into two groups： isolated（SHFM only and SHFM with other limb defects） and syndromic（SHFM with non-limb defects）.Prevalence rates were calculated by residential area（urban versus rural） and by gender.Further analyses were conducted to identify the characteristics of SHFM with related to gestational age,birth weight, perinatal outcome and affected limbs.Results A total of 736 newborn babies were identified with SHFM among 4,489,692 births,with a prevalence of 1.64/10,000.The prevalence of isolated SHFM and syndromic SHFM were 0.64 and 1.00 per 10,000 births,respectively.The prevalence of SHFM in male and female babies were 1.79 and 1.25 per 10,000 births,respectively.The prevalence of SHFM in urban and rural areas were 1.51 and 1.86 per 10,000 births,respectively.Preterm birth and low birth weight accounted for 30.20% and 43.93% of the SHFM cases,respectively.The perinatal mortality for the SHFM,isolated SHFM,and syndromic SHFM were 50.27%,24.74%,and 66.59%,respectively.SHFM occurred more often in upper limbs.Conclusion The prevalence of SHFM in Chinese population is greater than foreign populations.The high perinatal mortality rate of SHFM is associated with the severity of accompanied malformations.