串联质谱技术对新生儿遗传代谢病的筛查和随访研究.pdf

串联质谱技术对新生儿遗传代谢病的 筛查及随访研究 黄新文 杨建滨 童凡 杨茹莱 毛华庆 周雪莲 黄晓磊 杨莉丽 黄成刚 赵正言 [摘要] 目的 初步了解串联质谱筛查新生儿遗传代谢病的发生率及确诊病例的随访情况。 方法 采用串联质谱方法，对129415例新生儿进行26种氨基酸、有机酸及脂肪酸代谢性疾病筛查， 对确诊病例进行流行病学特点、预后及随访情况进行分析。结果 确诊新生儿遗传代谢病23例，包 括氨基酸代谢异常13例、有机酸代谢异常6例及脂肪酸代谢异常4例，发病率为1∶5626。筛查的阳 性预测值为2.10％，特异性为99.72％，敏感性为100％。所有确诊病例进行随访，仅有6例出现运 动、智力发育落后及代谢紊乱。结论 串联质谱方法能够早期筛查、诊断遗传代谢病，及早干预预后 较好；串联质谱筛查方法具有较高的特异性及敏感性，但阳性预测值低，需要进一步提高筛查效率。 串联质谱技术；遗传代谢病；新生儿筛查； 随访 Screeningforneonatalinbornerrorsofmetabolismbyelectrosprayionization-tandemmass spectrometryandfollow-up HUANGXin-wenYANGJian-binTONG FanYANGRu-lai MAO Hua- qingZHOUXue-lianHUANGXiao-lei,YANGLi-li,HUANGCheng-gang,ZHAOZheng-yanDepartment ofGeneticandMetabolicDiseases,theChildrenˊsHospital,ZhejiangUniversitySchoolofMedicine,Hangzhou 310003,China [Abstract] Objective Todeterminetheimpactofexpandednewbornscreeningusingtandemmass spectrometry(MS/MS)ontheoveralldetectionrateofinbornerrorsofmetabolisminZhejiangprovinceand toassesstheoutcomeofthepatientswhowerediagnosed.Method Bloodspotswerecollectedbetweendays 3and6oflifefromthenewborns.AllsamplesweresubjectedtoMS/MSanalysisusingWatersQuattroAPI. Confirmationtestsincludedaminoacidanalysis,urinaryorganicacidsbyGC-MS,routinebloodanalysis, biochemistry,bloodgasanalysis,bloodglucoseandammoniatests,bloodhomocysteine,lactateand pyruvatetests,urineacetonetests,biotinandbiotinenzymeprofileandDNAanalysis.Standardtreatment protocolwasgiventothepatients. Proteinrestricteddiet,specialpowderedformulaandmedicines recommendedforthepatientswithaminoacidemias.ProteinrestricteddietandL-carnitine,folicacidand VitaminB12supplementationweregivenforthepatientswithorganicacidemia.L-carnitinewasgiventothe patientswithprimarycarnitinedeficiency.Theoverallepidemiology,prognosis,follow-upofthescreening programwerealsoinvestigatedintheneonates.Result Atotalof129415neonateswereinvestigatedfor26 inbornerrorsofmetabolismduringtheperiod.Twenty-threenewbornswereconfirmedashavinginbornerrors