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【目的】总结和分析黑龙江省开展新生儿疾病筛查的状况。【方法】收集1999—2009年历年在黑龙江省出生的新生儿滤纸干血斑标本数量,分析全省历年筛查率的变化,并对黑龙江省筛查两种疾病的患病率和治疗情况进行分析。其中检测促甲状腺素(thyroid-stimulating hormone,TSH)筛查先天性甲状腺功能减低症(congenital hypothyroidism,CH);检测苯丙氨酸(phenylalanine,Phe)筛查高苯丙氨酸血症(hyperphenylalaninemia,HPA)。【结果】1999—2009年全省共筛查新生儿1 251 887名,1999年全省筛查率1.20%,2009年全省筛查率92.21%;通过新生儿疾病筛查检出CH 385例,全省患病率为1/3 251,HPA 148例,全省患病率为1/8 458。CH和HPA共533例,治疗随访520例,4~6岁智商(IQ)或0~3岁发育商(DQ)测定正常(IQ或DQ≥90)者439例(84.60%),平均开始治疗年龄(35±5)d,IQ(或DQ)平均值为92.45;另IQ(或DQ)平均值为80.24者81例(15.40%),平均开始治疗年龄(112±16)d,其中IQ或DQ<70智力低下者2例(0.38%),治疗时间越早,智力异常比例越低,差异有统计学意义(χ2=7.25,P<0.01)。【结论】黑龙江省的新生儿疾病筛查率逐年提高。CH患病率与国内基本相同,而HPA的患病率明显高于我国平均HPA患病率。确诊患儿治疗年龄越早,智力发育水平越接近正常儿童。
【Objective】 To summarize and analyze the screening of newborns in Heilongjiang Province. 【Method】 The samples of neonatal filter-dried blood spots collected in Heilongjiang Province from 1999 to 2009 were collected to analyze the changes of the screening rate in the whole province in the past years. The prevalence and treatment of two diseases in Heilongjiang Province analysis. Among them, thyroid-stimulating hormone (TSH) was used to screen for congenital hypothyroidism (CH); phenylalanine (Phe) was used to screen hyperphenylalaninemia HPA). 【Results】 A total of 1 251 887 newborns were screened in the province during 1999-2009. The province’s screening rate was 1.20% in 1999 and 92.21% in 2009 in the province. CH 385 cases were detected by neonatal screening , The province prevalence rate of 1 / 251,251 HPA cases, the province’s prevalence rate of 1/8 458. 539 cases of CH and HPA were followed up, 520 cases were followed up, 439 cases (84.60%) of whom were normal (IQ or DQ≥90) with IQ of 4 ~ 6 years old or DQ of 0 ~ 3 years old The mean age of IQ (or DQ) was 92.45. The mean IQ (or DQ) was 80.24, 81 cases (15.40%), and the average age of onset of treatment was (112 ± 16) d. There were 2 cases of DQ <70 mental retardation (0.38%). The earlier the treatment time was, the lower the proportion of mental abnormality was, the difference was statistically significant (χ2 = 7.25, P <0.01). 【Conclusion】 The screening rate of neonatal diseases in Heilongjiang Province increased year by year. The prevalence of CH is basically the same as that in China, while the prevalence of HPA is significantly higher than the average prevalence of HPA in China. The earlier diagnosis of children with treatment, mental development closer to normal children.