串联质谱与高通量测序技术在新生儿疾病筛查中的应用

目的 探讨串联质谱（tandem mass spectrometry，TMS）联合高通量测序技术（又称新一代测序技术，next generation sequencing，NGS）在新生儿疾病筛查中的应用价值。方法 依托妇幼健康服务联合体，对2015年4月至2018年5月期间常州地区出生的50844例新生儿开展TMS初筛，对初筛阳性病例运用NGS等技术进行鉴别诊断和基因诊断。结果 50844例新生儿经TMS初筛阳性650例，召回再次TMS检测结果阳性54例，对该54例病例运用NGS技术进行检测，最终确诊19例为遗传代谢病患儿，总体发病率为1/2676。结论 TMS联合NGS开展新生儿疾病筛查，能更早、更多地发现新生儿遗传性代谢疾病，从而达到早干预、早治疗的目的。

Combined application of tandem mass spectrometry and high-throughput sequencing in neonatal screening

Objective To explore the application value of tandem mass spectrometry combined with high throughput sequencing in neonatal disease screening. [WTHZ]Methods [WTBZ]Relying on the Maternal and Child Health Service Consortium, 50844 newborns born in Changzhou from April 2015 to May 2018 were screened with TMS. NGS and other techniques were used to differentiate and diagnose the initially positive cases. [WTHZ]Results [WTBZ]650 newborns were initially screened positive for TMS in 50844 cases. 650 cases were recalled again and 54 cases were positive in the result of the TMS test. NGS technology was used to detect the 54 cases, and 19 cases were finally diagnosed as hereditary metabolic diseases. The overall incidence was 1/2676. [WTHZ]Conclusion [WTBZ]The combination of TMS and NGS in neonatal disease screening can discover more and more neonatal hereditary metabolic diseases earlier, so as to achieve the purpose of early intervention and treatment, which has wide application value.