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目的 了解澳门地区先天性畸形的发生情况及可疑危险因素。方法 对 1991~ 1995年出生 ,并经澳门仁伯爵医院儿科医生诊断为先天性畸形患儿进行分析。结果 先天性畸形发生率为 11 5 % ,病死率为 3 8%。在单一畸形中 ,出现频率最多的 3种依次是唇裂及颚裂 (10 9% ) ,副耳廓畸形 (10 4% ) ,多指、拼指及四肢短缺畸形 (8 5 % ) ;以系统而言 ,出现频率最多的 3项依次是涉及除唇裂、颚裂之外的头面及五官畸形 (14 5 % ) ,四肢骨骼系统畸形 (13 9% )及消化系统畸形 (13 9% )。先天愚型仅占总出生人数的 0 9‰ ,它是染色体异常的重要构成 (占71 8% )。复合畸形占总畸形数的 17 5 %。母亲年龄及父亲年龄均以染色体异常组为高。结论 本次研究并未发现澳门地区有严重的先天性畸形发生水平。加强对先天性畸形的监测与研究是提高人口素质重要一环
Objective To understand the occurrence of congenital malformations and suspicious risk factors in Macao. METHODS: Children born between 1991 and 1995 were diagnosed as having congenital malformations by a pediatrician at the Earnest Hospital in Arun. Results The incidence of congenital malformations was 115%, and the mortality was 38%. Among the single malformations, the three most frequently occurring ones were cleft lip and palate (10 9%), parapinal malformation (10 4%), polydactyly, finger-fingered and limbs malformed (85%); In terms of frequency, the most frequently occurring items were head and facial deformities (145%) except for cleft lip and palate, skeletal system deformity (13%), and digestive system malformation (13%). Congenital misery only accounts for 0 9 of the total number of births, which is an important component of chromosomal abnormalities (71.8%). Compound deformities accounted for 175% of the total deformities. Both the mother’s age and father’s age were higher in the chromosomal abnormalities group. Conclusions This study did not find that there were serious congenital malformations in the Macau region. Strengthening the monitoring and research of congenital malformations is an important part of improving the quality of the population