摘要
目的 分析串联质谱技术联合高通量基因检测在新生儿遗传代谢性疾病筛查中的应用效果。方法 采用串联质谱法对2020年12月—2022年10月在贵阳市妇幼保健院分娩的6 716例新生儿进行48种遗传代谢性疾病筛查,初筛阳性者召回复查,串联质谱复查仍阳性者进行相关遗传病的高通量基因检测以明确诊断,回顾性分析筛查结果。结果 6 716例新生儿中,串联质谱初筛结果为阳性者64例,初筛阳性率为0.95%(64/6 716),其中男33例,女31例;早产儿9例,足月儿55例;汉族55例,布依族3例,满族2例,苗族2例,土家族1例,彝族1例。共筛查出可疑遗传代谢性疾病16余种,其中氨基酸代谢缺陷病22例,初筛阳性率0.33%;有机酸代谢病36例,初筛阳性率0.54%;脂肪酸氧化缺陷病6例,初筛阳性率0.09%。对初筛阳性的新生儿进行召回复查,共召回59例,召回率为92.19%(59/64),有7例新生儿经串联质谱复查后指标仍存在异常,复筛阳性率11.86%(7/59),其中男6例,女1例,均为足月儿;汉族6例,布依族1例。检出的疾病包括氨基酸代谢缺陷病2例,有机酸代谢病4例及脂肪酸氧化缺陷病1例。召回复筛阳性者4例,最终经基因检测确诊1例遗传代谢性疾病患者,在其ACADS基因上检出c.328G>A和c.1195C>T的复合杂合变异,提示短链酰基辅酶A脱氢酶缺乏症(SCAD),遗传代谢性疾病总体发病率为0.01%(1/6 716)。另检出遗传代谢性疾病基因携带者2例。结论 串联质谱法是新生儿遗传代谢性疾病筛查中的有效手段,可极大地扩展疾病筛查谱,联合高通量基因检测有助于对遗传代谢性疾病进行早期筛查和诊断。
Objective To analyze the application effect of tandem mass spectrometry(MS/MS)combined with next generation sequencing(NCS)in neonatal screening for inherited metabolic diseases(IMD).Methods MS/MS was used to detect 48 kinds of IMD in 6716 neonates in Guiyang Maternal and Child Health Care Hospital,from December 2020 to October 2022.Neonates who were positive in the initial screening were recalled for re-examination,and those who were stilpositive in the reexamination were furher diagnosed by genetic testing.Screening results were retrospectively analyzed.Results Among the 6716 neonates,64 cases(0.95%,64/6716)were positive in the initial screening,including 33 males and 31females;9 preterm infants and 55 full-term infants;55 cases of Han nationality 3 of Buyi,2 of Man,2 of Miao,1 of Tujia,and lof Yi nationality.More than 16 kinds of suspected genetic metabolic diseases were detected,including 22 cases of aminoacidopathy,with a positive rate of0.33%,36 cases of organic acid metabolic diseases,with a positive rate of.54%,and 6 cases of faty acid oxidation disorders,with a positive rate of 0.09%.Fifynine cases were recalled for reexamination with a recall rate of 92.19%(59/64).Seven neonates still had abnormal indicators after re-examination,with a re-screening positive rate of 11.86%(7/59),including 6 males and 1 female,6 cases of Han nationality and 1 case of Buyi nationality,allof whom were full-term infants.Aminoacidopathy were detected in 2 cases,organic acid metabolic diseases in 4 cases and fatty acid oxidation disorders in 1 case.Finally,4 positive cases were recalled for genetic testing,and one case of IMD was diagnosed by NGS.Compound heterozygous variants of c.328G>A and c.1195C>T were detected on the ACADS gene,indicating short chain acyl-coA dehydrogenase deficiency(SCAD).The overall incidence of genetic metabolic disease was 0.01%(1/6716).Two cases were identified as carriers of genetic mutations for IMD.Conclusion MS/MS is an effective method for screening of neonatal IMD,which greatly expand the screening spectrum of diseases.Combination of MS/MS and NCS is powerful for early screening and diagnosis of IMD.
作者
吴芳芳
胡亚欣
雷榆
蒲茜
金娟
肖丽
伍成荣
黄靖惠
黄海龙
余蕾
WU Fang-fang;HU Ya-xin;LEI Yu;PU Qian;JIN Juan;XIAO Li;WU Cheng-rong;HUANG Jing-hui;HUANG Hai-long;YU lei(Guizhou Medical University,Guiyang,Guizhou 550004,China;不详)
出处
《中国妇幼保健》
CAS
2024年第3期422-425,共4页
Maternal and Child Health Care of China
关键词
串联质谱技术
高通量测序
遗传代谢性疾病
贵阳地区
新生儿疾病筛查
Tandem mass spectrometry
Next generation sequencing
Inherited metabolic disease
Guiyang area
Neonatal disease screening
