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1、中孕期唐氏綜合征三聯(lián)篩查與二聯(lián)篩查的篩查效率比較銀益飛朱寶生蘇潔焦存仙朱姝陳紅章錦曼王瑞紅李蘇云【摘要】目的:比較中孕期唐氏綜合征產(chǎn)前篩查中三聯(lián)篩查與二聯(lián)篩查的篩查效率,以及評估游離雌三醇(uE3)在產(chǎn)前篩查中的價(jià)值。方法:采用時(shí)+6間分辨熒光免疫檢測技術(shù),對同意接受產(chǎn)前篩查的孕14周~20周單胎妊娠以及已經(jīng)確診唐氏綜合征妊娠孕婦的凍存血清標(biāo)本進(jìn)行檢測,測定甲胎蛋白(AFP)、人絨毛膜促性腺激素游離β亞基(freeβ-HCG)、uE3濃度,應(yīng)用LifeCycle軟件分別計(jì)算三聯(lián)篩查(AFP+freeβ-HCG+
2、uE3)和二聯(lián)篩查(AFP+freeβ-HCG)的風(fēng)險(xiǎn)值,比較三聯(lián)篩查與二聯(lián)篩查對唐氏綜合征的檢出率和假陽性率。結(jié)果:在1078例中孕期產(chǎn)前篩查以及10例凍存血清標(biāo)本的唐氏綜合征妊娠孕婦中,當(dāng)風(fēng)險(xiǎn)截?cái)嘀禐?/270時(shí),三聯(lián)篩查與二聯(lián)篩查對唐氏綜合征的檢出率均為66.7%,假陽性率分別為4.6%與7.2%;當(dāng)截?cái)嘀禐?/380時(shí),三聯(lián)篩查的檢出率高于二聯(lián)篩查(91.7%vs75%),假陽性率分別為7.5%與10.1%。結(jié)論:三聯(lián)篩查是比二聯(lián)篩查更有效的唐氏綜合征篩查方法,有必要制定適合本地區(qū)人群的風(fēng)險(xiǎn)切割值,以提
3、高產(chǎn)前篩查的篩查效率。【關(guān)鍵詞】唐氏綜合征;產(chǎn)前篩查;二聯(lián)篩查;三聯(lián)篩查AComparisonStudyontheEffectivenessoftheDoubleTestandtheTripleTestinSecond-TrimesterDownSyndromeScreeningYINYi-Fei,ZHUBao-Sheng,SUJie,JIAOCun-Xian,ZHUShu,CHENHong,ZHANGJin-Man,WANGRui-Hong,LISu-Yun(GeneticDiagnosisCenter,an
4、dObstetricsDept,TheFirstPeople’sHospitalofYunnanProvince,*157JinbiRoad,Kunming,Yunnan650032,P.R.China)基金項(xiàng)目:云南省十一五社會發(fā)展計(jì)劃項(xiàng)目(編號:2007CA008)。作者單位:云南省第一人民醫(yī)院遺傳診斷中心(銀益飛、朱寶生、蘇潔、朱姝、陳紅、章錦曼、王瑞紅、李蘇云),產(chǎn)科(焦存仙),昆明650032。通信作者:朱寶生,電子郵件:bszhu@public.km.yn.cn1【Abstract】Objectiv
5、esTocomparetheDown'ssyndromescreeningeffectivenessbetweenthedoubletestandtripletest,andtoestimatethevalueofunconjugatedestriolintheprenatalscreening.MethodsTheserumsamplesfromsingletonpregnantwomenreceivingtheprenatalscreeningandthefrozenstoredserumsamplesfr
6、omDown’ssyndromepregnanciesweremeasuredforthelevelsofhumanchorionicgonadotropinfreeβsubunit(freeβ-HCG),alpha-fetoprotein(AFP),andunconjugatedestriol(uE3),usingdissociationenhancedlanthanidefluoroimmunoassay(DELFIA).TherisksofDownsyndromefetalwerecalculatedby
7、doubletest(AFP+freeβ-HCG)andtripletest(AFP+freeβ-HCG+uE3)viaLifeCyclesoftware,respectively.Thedetectionrateandfalsepositiverateofthedoubletestandthetripletestwerecompared.ResultsAmong1078screeningcasesand10frozenserumsamplesofDownsyndromepregnancies,whenthec
8、ut-offvalueofthehighriskwassetat1:270,thedoubletestandthetripletesthadsamedetectionrate(66.7%),andthefalsepositiveratewere7.2%forthedoubletestand4.6%forthetripletest,respectively;whenthecut-offv