摘要
目的探究串联质谱与二代测序联用在新生儿遗传代谢病诊断中的应用价值。方法回顾性分析2018年6月至2020年12月山东省妇幼保健院收治的临床表现疑似遗传代谢病高危新生儿32例为研究对象,所有患儿均给予串联质谱与二代测序筛查遗传代谢病。结果32例临床表现疑似遗传代谢病新生儿,均先行串联质谱检测,后经测序技术检测后诊断遗传代谢疾病为20例,其中有机酸代谢病5例、氨基酸代谢病12例、脂肪酸代谢病3例,7例为基因突变携带者,5例未发现受检者在检测范围内存在与表型相符的已知致病突变或疑似致病突变。结论串联质谱与二代测序联用有助于在新生儿期对临床异质性高、表型错综复杂的代谢性疾病的患儿进行积极的检测及评估,并从基因角度解释病因,从而指导进一步治疗及遗传咨询。
Objective To explore the application value of tandem mass spectrometry combined with second-generation sequencing in the diagnosis of neonatal genetic metabolic diseases. Methods From June 2018 to December 2020 in Maternal and Child Health Care Hospital of Shandong Province, 32 neonates with suspected clinical symptoms at high risk of genetic and metabolic diseases were retrospectively analyzed. All of the neonates were screened for genetic and metabolic diseases by tandem mass spectrometry and second-generation sequencing. Results 32 cases of clinical suspected genetic metabolic disease newborn are first tandem mass spectrum detection, after sequencing technology to detect the genetic metabolic disease diagnosis for 20 cases, including organic acid metabolic disease in 5 cases, 12 cases amino acid metabolic disease, fatty acid metabolic disease(3 cases), 7 cases for genetic mutation carriers, 5 cases were found no subjects within the scope of testing is consistent with phenotypic pathogenic mutations known or suspected of pathogenic mutations. Conclusion The combination of tandem mass spectrometry and second-generation sequencing is helpful for the positive detection and evaluation of children with metabolic diseases with high clinical heterogeneity and complex phenotypes in the neonatal period,and to explain the etiology from the perspective of gene, so as to guide further treatment and genetic counseling.
作者
王菊
周玉侠
WANG Ju;ZHOU Yuxia(Prenatal Diagnosis Center of Maternal and Child Health Care Hospital of Shandong Province,Key Laboratory of Birth Regulation and Control Technology of National Health and Family Planning Commission of China,Jinan,Shandong 250000,China)
出处
《中国优生与遗传杂志》
2021年第12期1739-1741,共3页
Chinese Journal of Birth Health & Heredity
关键词
串联质谱
新生儿遗传代谢病
二代测序
tandem mass spectrometry
neonatal genetic metabolic diseases
second-generation sequencing
