ISPD对基因组测序在产前诊断中的应用的立场声明2024.docx
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1、ISPD对基因组测序在产前诊断中的应用的立场声明2024一、基因组测序应用现状1.多种产前基因组测序技术汇总本立场声明对7种基因测序技术的测序范围、测序深度、分析范围、优缺点进行了汇总。全外显子组测序(WES)是应用于产前临床实践及科研的主要技术方法,全基因组测序(WGS)目前仍主要应用于科研。建议咨询者要充分认识这些技术之间的差异,针对不同的病情,选择使用适当的检测及分析方法。TAB1E1SummaryofsequencingapproachesMethodWhatissequenced?Whatisana1yzed?DepthAdvantageDisadvantageComment(Who
2、1e)genome95%of3bi11ionbp(introns,95%of3bi11ionbp(introns,3O4OXComprehensive:NCgenoiddetectionCapture(WhOIe)Exonsandf1ankingintronExonsandf1ankingintron100Xexxesequenceof_20,0genessequenceof-20,(XX)genes(15%ofgenome)(15%ofgenome)A11sequenceab1eexonsana1yzedHighercoverageDigita1(wtx)1e)95%of3bi11ionbp
3、(introns.Exsandf1ankingsequenceecxneexons,non-coding)of20Q00genes(1.5%ofgenome)MoreVUS/GUS:possib1emoreSF/IF;Researchoty1imiteddataonSVandNC-Vinterpretationdseaseassociation;expensive;1owercoverageOn1ycodingsequences,nota11genesAcceptab1ec1inica1optionequa11ycaptured;moreriskforwithMDTexpertGUS/VUS.
4、SF,IFthanc1inica1,invo1vementprenata1phenotypeandphenotype-drivenpane1s.30-40XA11Sequenceab1eexonsana1yzed:easi1ySameasabove:1owercoveragethanResearchonadaptab1eana1ysispipe1ineifnewcapture(who1e)exomegenediscovery(Digita1)prenata1phenotypepane1Exonsandf1ankingintronsequenceof_4000genesExonsandf1ank
5、ingintronsequenceof13genes100XComprehensiveforknowngeneswithprenata1phenotypes;1owerriskforGUS/VUSthanWhoIeZcIinicaIeone;highcoverage:mayinc1udemethodforCNVdetection;reana1ysispossib1e.SFsnotdetected.InfrequentIFsOn1ycodingsequencesofknowngenesAcceptab1ec1inica1optionforprenata1phenotypesnotaNwithMD
6、Texpertgenesequa11ycaptured;regu1arinvo1vementpane1updaterequired.-100XKnowngenesforspecificsyndrome/organphenotype:1owerriskforGUS/VUSthanWhoIe/c1inica1/prenata1exome;highercoverage;mayinc1udemethodforCNVdetection;reana1ysispossib1e.SFsnotdetected.InfrequentIFs(Digita1)Exonsandf1ankingintronExonsan
7、df1ankingintronphenotype-sequenceof_40genessequenceoffewtodrivengene100sofgenespane1On1ycodingsequencesofknowngenesAcceptab1ec1inica1optionforprenata1phenotypesnota11withMDTexpertgenesequa11ycaptured:regu1arinvo1vefnentpane1updaterequired.C1inicaIZMedicaIExonsandf1ankingintronExonsandf1ankingintrone
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