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目的调查大连市2007年～2011年唐氏综合征(DS)的发病情况。方法根据大连市妇幼信息监测网,调查2007年～2011年间大连市活产新生儿数,通过大连市出生缺陷监测网统计、大连市四所染色体病诊断实验室诊断的0～6岁儿童中DS患儿及大连产前诊断中心在孕中期诊断出来的DS患儿,三者之和为大连市DS患病人数,从而计算DS的发病率,并比较男女发病率的差别及合并其它畸形的比例;调查活产儿母亲分娩时年龄分布情况,计算各年龄段的DS发病率,比较不同年龄段发病率的差别。结果:1.五年间共调查活产新生儿242 329例,DS患儿163例,总发病率6.73/万,其中男性发病率为7.71/万,女性发病率为5.66/万,二者比较差异有统计学意义(P=0.05);2.DS发病率在母亲不同年龄段有明显差别,35岁以上发病率明显增高;3.DS患儿常常合并其他畸形。结论大连市唐氏综合征的发生率为6.73/万,男性发病率大于女性。此病患儿常合并其他出生缺陷。其发病率随母年龄增大逐渐升高。因此应积极采取产前预防及干预措施,尽量避免DS患儿的出生,从而提高出生人口素质。
Objective To investigate the incidence of Down Syndrome (DS) in Dalian from 2007 to 2011. Methods According to Dalian MCH Information Network, the number of live births in Dalian was calculated from 2007 to 2011. According to the statistics of Dalian Birth Defects Monitoring Network, DS in 0-6 years old children diagnosed by four chromosome diagnosis and diagnosis laboratories in Dalian City, Children and Dalian prenatal diagnosis center diagnosed in the second trimester of DS children, the sum of the three is the number of DS patients in Dalian, thereby calculating the incidence of DS, and to compare the incidence of men and women and the proportion of other malformations combined ; Investigate the age distribution of mothers during childbirth, calculate the incidence of DS in all age groups and compare the differences in incidence among different age groups. A total of 242 329 live births and 163 children with DS were surveyed over a five-year period, with a total incidence of 6.73 / million, of which the incidence of male was 7.71 / million and the incidence of female was 5.66 / (P = 0.05). 2. The incidence of DS was significantly different among maternal age groups and the morbidity rate was significantly higher than 35 years old. 3.DS children often combined with other deformities. Conclusions The incidence of Down Syndrome in Dalian is 6.73 / million, and the incidence of male is higher than that of female. Children with this disease often have other birth defects. The incidence increased gradually with the increase of mother’s age. Therefore, we should take prenatal preventive and intervention measures to avoid the birth of DS children as much as possible so as to improve the quality of the birth population.