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目的建立新疆维吾尔自治区妇幼保健院新生儿疾病筛查中心实验室苯丙酮尿症筛查切值。方法以乌鲁木齐、昌吉、吐鲁番地区出生的新生儿为筛查对象,于出生后72h,充分哺乳6次后采取足跟血,制成滤纸干血片,采用荧光法检测标本中苯丙氨酸浓度,进行统计分析。结果根据我中心检测69 963例新生儿苯丙酮尿症筛查的数据,确定新生儿疾病筛查中心实验室苯丙酮尿症的筛查切值为2.09 mg/d L;结论新疆维吾尔自治区妇幼保健院新生儿疾病筛查中心新制定的phe参考切值筛查苯丙酮尿症具有可行性,为保证实验室工作质量提供依据。
Objective To establish a cut-off value of phenylketonuria screening test in neonatal screening center in MCH in Xinjiang Uygur Autonomous Region. Methods Newborns born in Urumqi, Changji and Turpan prefecture were selected as screening objects. After 72 hours of birth, they were fully breast-fed for 6 times and heel-blood was taken to make dry filter paper pieces. Phenylalanine concentration ,conduct statistical analysis. Results According to the data of 69 963 cases of neonatal phenylketonuria screening test in our center, the cut-off value of phenylketonuria in neonatal screening center was 2.09 mg / dL. Conclusion The maternal and child health care in Xinjiang Uygur Autonomous Region Hospital neonatal screening center new phe reference value of screening phenylketonuria screening feasibility, to ensure the quality of laboratory work to provide the basis.