串联质谱技术在山东鲁中地区新生儿遗传代谢病筛查中的应用

Application of tandem mass spectrometry in screening of neonatal genetic metabolic diseases in the central region of Shandong

目的了解山东省鲁中地区新生儿体内氨基酸水平变化特点,为临床判读提供帮助。方法利用串联质谱技术非衍生法对在鲁中地区出生且自愿接受筛查的新生儿47 916例进行新生儿遗传代谢病筛查,剔除确诊阳性病例33例,入选样本47 883例,根据胎龄、出生体重、采血时间、季节进行分组。结果早产儿较足月儿除丙氨酸、蛋氨酸之外体内各种氨基酸指标差异有统计学意义（P〈0.01）,低体重较正常体重的除瓜氨酸、蛋氨酸、鸟氨酸之外体内各种氨基酸指标差异有统计学意义（P〈0.01）,采血日龄3～7 d较〉7 d的除脯氨酸之外体内各种氨基酸指标差异有统计学意义（P〈0.01）,新生儿出生四季间各种氨基酸比较指标差异有统计学意义（P〈0.01）。结论在应用串联质谱技术进行新生儿遗传代谢病筛查结果判读时应根据胎龄、出生体重、采血日龄、出生季节的不同选择适宜的参考值范围。

Objective To understand the change characteristics of amino acids levels in neonates in the central region of Shandong,provide assistance for clinical interpretation. Methods Non-derivative tandem mass spectrometry method was used to conduct neonatal genetic metabolic diseases screening among 47 916 voluntary neonates born in the central region of Shandong,33 neonates who were confirmed positive were excluded,47 883 neonates were collected finally,then the neonates were divided into different study groups according to fetal age,birth weight,blood collection time,and season. Results There were statistically significant differences in amino acid indexes between full-term neonates and preterm neonates except for alanine and methionine（ P〈0. 01）; there were statistically significant differences in amino acid indexes between low birth weight infants and normal birth weight infants except for citrulline,methionine,and ornithine（ P〈0. 01）; there were statistically significant differences in amino acid indexes between blood collection at 3-7 days and blood collection over 7 days except for proline（ P〈0. 01）; there were statistically significant differences in amino acid indexes among different seasons（ P〈0. 01）. Conclusion When making clinical interpretation for the results of neonatal genetic metabolic diseases screening by tandem mass spectrometry,four elements should be considered in order to select the appropriate reference value range： age,birth weight,blood collection time,and season.