山东省0～7岁儿童先天性及遗传性疾病调查报告

The Investigation and Analysis of Childhood Congenital and Genetic Diseases from Age 0 to 7 in Shandong Province

目的:通过对山东省9个县(市、区)0～7岁儿童出生缺陷的调查,了解影响山东省出生人口素质的重要遗传病、先天性疾病及其影响因素。方法:用随机整群抽样方法,根据地域分布、经济、社会、人口分布等确定示范点,并对183 249例0～7岁儿童进行基线调查。采用回归性询问填表法初筛可疑阳性患儿,并按全国统一诊断标准逐个查体,明确诊断,填写统一调查表,录入微机,并进行统计学处理。结果:①筛查183 249例儿童,确诊先天性及遗传性疾病2782例,发病率为15.18‰(2 782/183 249)。②不同地区发病率有显著差异(P<0.0001)。③排前10位的疾病分别为腹股沟疝及脐疝(n=442)、智力低下(n=317)、鞘膜积液(n=245)、先天性心脏病(n=243)、眼部畸形及视力障碍(n=122)、肢体畸形(n=206)、脑瘫(n=202)、唇(腭)裂(n=124)、先天性耳前瘘管(n=233)及聋哑(n=115)。④多胞胎76例(2.73％,76/2 783)。⑤出生时妊娠周数<37周的206例,占7.40％(206/2 782),>42周的76例,占2.74％(76/2 782),平均39.59±2.10周。⑥出生时体重<1.6kg的16例,1.6～2.7kg的363例,两者占13.62％;≥4.0kg的巨大儿325例(11.68％,325/2 782),平均3.30±0.58kg;母亲年龄18～22岁37例,35～45岁127例,>45岁7例,平均28.3±3.9岁。⑦患儿男性占68.6％(1 908/2 782)。

Objective: To investigate childhood congenital and genetic diseases from age 0 to 7 in Shandong province and the relevant risk factors. Methods: A number of 183,249 children aged 0 -7 were surveyed randomly in Shandong of 9 model side (county, city or district) with different geography, economical, social and population status. Stratified cluster sampling was used. Results: ①The incidence of childhood congenital and genetic diseases was 15. 18‰(2782/183249). ②Significant difference was found among 9 model side( P < 0. 0001). ③The first to the tenth disease was inguinal hernia and umbilical her-nia(n =442) , mental retardation(n =317) , hydroceles(n =245) , congenital cardiopathy(n =243) , blindness and dysopia vision( n = 233 ) , congenital extrinsic deformities (n = 206 ) , cerebral palsy (n = 202 ) , harelip and cleftpalate (n = 124) , preauricular fistula(n = 122) , and deaf - mutism(n = 115) , respectively. ④There were 76 cases with multifetation( 2.73% , 76/2782). ⑤The mean value of gestational period was 39.59± 2. 10 (x ± s ) weeks and < 37 weeks was found in 206 children (7.40% ,206/2782). ⑥The mean of the body weight at birth was 3.30 ±0.58kg, and 16 children were in <1.6kg, 363 ones were in 1.6 -2.7kg(13.62% ,379/2782); 325 ones were in ≥4. 0kg(11.68% ,325/2782). The mother's age was 28.3 ±3.9 years, and 18 -22,35 -45 and >45 years were 37, 127 and 7, respectively.⑦ Sex ratio was 2. 183:1 (boy/girl, 1908/874). Conclusion: In Shandong province, the incidence of the childhood congenital and genetic diseases has not alike in different district. To interfere the birth defect, prevention must be put first.