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目的了解2009~2012年广西地区新生儿疾病筛查情况及确诊率。方法通过检测促甲状腺素(TSH)筛查甲状腺功能减低症(CH)、苯丙氨酸(PHe)筛查苯丙酮尿症(PKU)、17-羟孕酮(17-OHP)筛查先天性肾上腺皮质增生症(CAH)、葡萄糖-6-磷酸脱氢酶(G-6-PD)筛查G-6-PD缺乏症,对初次筛查阳性的患儿进行及时召回并确诊。结果 2009年1月至2012年12月广西新生儿疾病筛查中心合作单位的新生儿筛查率呈逐年上升趋势且CH、PKU、CAH、G-6-PD初次筛查阳性患儿召回率及确诊率存在差异。结论新生儿筛查可以在早期发现CH、PKU、CAH、G-6-PD缺乏症患儿,对其早期进行干预可以防止其发病从而降低对其智力及生长发育的影响,对提高人口素质有重要意义。
Objective To understand the screening and diagnosis of neonatal diseases in Guangxi from 2009 to 2012. Methods Screening for thyroid dysfunction (CH) by detecting thyrotropin (TSH), phenylalanine (PHe) screening for phenylketonuria (PKU) and screening 17-OHP for congenital Adrenal gland hyperplasia (CAH) and glucose-6-phosphate dehydrogenase (G-6-PD) were screened for G-6-PD deficiency. The children with positive screening were promptly recalled and diagnosed. Results From January 2009 to December 2012, the neonatal screening rate of cooperative units of Guangxi Neonatal Screening Center showed an upward trend year by year. The recall rates of CH, PKU, CAH and G-6-PD primary screening positive children and There are differences in the diagnosis rate. Conclusion Neonatal screening can detect children with CH, PKU, CAH and G-6-PD deficiency in the early stage. Premature intervention can prevent their onset and reduce the impact on their intelligence and growth. Significance.