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目的总结漳州市妇幼保健院成立新生儿疾病筛查分中心以来,开展新生儿苯丙酮尿症(PKU)和先天性甲状腺功能减低症(CH)筛查情况,报告PKU和CH的发病率,探讨和促进漳州市新生儿疾病筛查工作开展。方法对全市2个区和所辖9个县(县级市)共67个单位自2006年8月-2012年5月在各级医疗保健机构出生的254 801例新生儿进行苯丙酮尿症(PKU)和先天性甲状腺功能减低症(CH)筛查。所有筛查对象在出生后72h、充分哺乳后用采血针刺足跟内侧采血。PKU筛查采用荧光测定法对PKU进行筛查,测定血苯丙氨酸的浓度。CH筛查采用免疫荧光分析法测定促甲状腺素。结果与结论根据调查与统计,自2006年8月份-2012年5月份期间,我院新生儿疾病筛查分中心共对我市254 801例新生儿进行了PKU和CH筛查,检出PKU患儿5例,新生儿PKU的发病率为1∶50960;检出CH患儿104例,发病率为1∶2450。
Objective To summarize the screening of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Zhangzhou MCH center since the establishment of the Neonatal Screening Center and to report the incidence of PKU and CH And promote Zhangzhou neonatal screening work carried out. Methods A total of 67 801 newborns born in various health care institutions from 67 districts in 2 districts and 9 counties (county-level cities) from August 2006 to May 2012 were enrolled in this study. PKU) and congenital hypothyroidism (CH) screening. All screening objects at 72h after birth, after sufficient breast-feeding with blood acupuncture heel medial blood. PKU Screening PKU is fluoroscopically screened to determine the plasma phenylalanine concentration. CH screening using immunofluorescence assay for thyrotropin. RESULTS AND CONCLUSION According to the survey and statistics, from December 2006 to May 2012, a total of 254 801 newborns in our city were screened for PKU and CH by the Neonatal Screening Center in our hospital. PKU was detected 5 cases of children, the incidence of neonatal PKU 1:50960; CH children were detected in 104 cases, the incidence was 1:2450.