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目的了解湘潭地区新生儿苯丙酮尿症(PKU)与甲状腺功能减低症(CH)的发病率。方法应用酶化学法和酶联免疫法分别测定干血片Phe浓度和干血片TSH浓度。对2006年1月～2008年7月新生儿疾病筛查资料进行分析。结果2006年1月～2008年7月共筛查人数为34650例,筛查率为52.25%,各县区为32.04%～94.89%;确诊PKU 1例,发病率0.03‰。确诊CH 28例,发病率为0.81‰,男性为0.77‰,女性为0.85‰,P<0.05,二者差异有统计学意义。结论新生儿疾病筛查可降低出生缺陷,提高人口素质。
Objective To understand the incidence of neonatal phenylketonuria (PKU) and hypothyroidism (CH) in Xiangtan area. Methods The concentration of dry matter Phe and the dry matter TSH concentration were determined by enzyme chemistry and enzyme-linked immunosorbent assay respectively. January 2006 ~ July 2008 neonatal screening data were analyzed. Results From January 2006 to July 2008, the number of co-screening was 34650, the screening rate was 52.25%, and the counties were 32.04% ~ 94.89%. One case was diagnosed with PKU, the incidence was 0.03 ‰. The diagnosis of CH in 28 cases, the incidence was 0.81 ‰, 0.77 ‰ for men and 0.85 ‰ for women, P <0.05, the difference was statistically significant. Conclusion Neonatal screening can reduce birth defects and improve population quality.