Abstract: Objective To investigate the incidence of genetic metabolic diseases in different crowds in central Guangxi by retrospectively analyzing the Results of tandem mass spectrometry screening in 66 471 newborns and high-risk infants and the genetic test Results in confirmed cases. Methods Dried-blood spot specimens on filter papers of 63 190 newborns from central Guangxi area and 3 281 high-risk infants were selected from the neonatal screening center of Liuzhou Maternal and Child Health Hospital from January 2014 to April 2018.The amino acid and acyl carnitine spectrum were detected.Children with suspected Result were further confirmed by genetic methods. Results Totally 717 cases were screened as positive and 19 cases were confirmed among these 63 190 newborns,and the group incidence was 1/3 326.And 12 cases were confirmed in 57 688 infants with normal weight,with the detection rate of 1/4 807.Likewise,7 cases were confirmed in 5 502 cases with low birth weight,with the detection rate of 1/786.And 16 cases were confirmed in 3 281 high-risk infants,with the detection rate of 1/205.Totally 13 kinds of genetic metabolic diseases were confirmed in 35 cases. Conclusions Inherited metabolic disease is prevalent in central Guangxi,and infants with low birth weight are more likely to develop inherited metabolic diseases than normal weight infants.It is necessary to strengthen the screening of genetic metabolic diseases in the newborn and high-risk infants in the local area,to enhance the ability of intervention and later guidance in clinicians,thereby improving the diagnosis and treatment level and then reducing the missed diagnosis and misdiagnosis.So that the neonatal mortality and disability rate will be reduced and the quality of the population in the region will be improved.

Key words: genetics, metabolism, tandem mass spectrometry, amino acid, acyl carnitine

摘要： 目的 回顾性分析桂中地区66 471例新生儿及高危儿遗传代谢疾病串联质谱筛查及确诊患儿的基因检测结果,研究该地区不同人群遗传代谢病的发生率。方法 选择2014年1月－2018年4月柳州市妇幼保健院新生儿疾病筛查中心接收桂中地区63 190例新生儿以及3 281例高危儿干血滤纸片样本,检测其氨基酸与酰基肉碱谱筛查遗传代谢疾病,可疑阳性患儿进一步通过基因手段确诊。结果 63 190例新生儿串联质谱初筛阳性717例,确诊患儿19例,群体发生率为1/3 326。其中正常体重儿57 688例,确诊患儿12例,检出率为1/4 807;低出生体重儿5 502例,确诊患儿7例,检出率为1/786。高危儿3 281例,确诊患儿16例,检出率为1/205。共确诊35例13种遗传代谢疾病。结论 桂中地区遗传代谢疾病有一定发生率,低出生体重儿较正常体重儿更易发生遗传代谢疾病。应加强本地区新生儿及高危儿群体的遗传代谢疾病筛查,增强临床医生对患儿的干预及后期指导能力,从而进一步提高诊疗水平,减少漏诊、误诊,降低新生儿死亡率及致残率,提高本地区出生人口素质。

关键词: 遗传, 代谢, 串联质谱, 氨基酸, 酰基肉碱