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目的为了解广西客家新生儿苯丙酮尿症筛查情况,指导临床早期检测、早期治疗,提高人口出生质量。方法采取回顾性分析法,对2013年广西博白县和陆川县客家新生儿苯丙酮尿症筛查资料进行统计分析。结果2013年客家新生儿苯丙酮尿症筛查49 103例,初筛阳性174例(0.35%);其中,陆川县筛查16 950例,初筛阳性48例(0.28%),博白县筛查32 153例,初筛阳性126例(0.39%)。结论开展新生儿苯丙酮尿症筛查为早期干预提供有价值的医学依据。
Objective To understand the screening of phenylketonuria in newborns in Hakka of Guangxi and to guide the early detection and early treatment in clinical practice to improve the birth quality of the population. Methods A retrospective analysis was conducted to analyze the screening data of phenylketonuria among Hakka newborns in Bobai County and Luchuan County in Guangxi in 2013. Results In 2013, 49 103 cases of neonatal phenylketonuria were screened and 174 cases (0.35%) were primary screening positive. Among them, 16 950 cases were screened in Luchuan County, 48 cases (0.28%) were primary screening positive, 32 153 cases were examined, and 126 cases (0.39%) were positive for primary screening. Conclusion Neonatal screening for phenylketonuria provides a valuable medical basis for early intervention.