彩色多普勒超声联合母体血清学筛查诊断胎儿颜面部畸形的临床价值

HainanMedJ,Aug.2019,Vol.30,No.15doi:10.3969/j.issn.1003-6350.2019.15.029

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彩色多普勒超声联合母体血清学筛查

诊断胎儿颜面部畸形的临床价值

任少婷1，陈宝珊1，刘香2

1.陕西省康复医院妇产科，陕西西安710065；2.西安电力中心医院妇产科，陕西西安710032

【摘要】目的探讨彩色多普勒超声联合母体血清学筛查诊断胎儿颜面部畸形的临床价值。方法选取

2017年8月至2018年6月在陕西省康复医院产科产前筛查的3621例孕中期孕妇作为研究对象，对所有孕妇胎儿行母体血清学绒毛膜促性腺激素(HCG)、甲胎蛋白(AFP)筛查高危风险，再给予羊水穿刺染色体核型分析染色体异常情况，并采用超声检测胎儿颜面部畸形情况，分析血清学+超声对胎儿颜面部畸形的诊断价值。结果3621例孕妇经单独超声筛查，发现颜面部异常胎儿17例(0.46%)；经母体血清学筛查存在高风险者271例(7.48%)，对孕妇进行遗传学咨询，行羊水穿刺分析证实染色体异常20例，其中18－三体综合征11例，唐氏(21-三体)综合征9例；20例染色体异常胎儿经超声检查共发现19例颜面部畸形，包括唇腭裂11例，唇裂2例，鼻骨缺失3例，前脑无裂、外耳畸形、小下颌及无眼畸形各1例；血清学及超声共筛查出胎儿颜面部畸形19例，均经引产或出生后证实；经出生后证实，超声单独筛查的漏诊率为15.0%(3/20)，血清学+超声筛查的漏诊率为5.0%(1/20)，前者明显高于后者，差异有统计学意义(P<0.05)。结论母体血清学联合彩色超声能够有效筛查孕中期胎儿颜面部畸形情况，对于提高我国新生儿质量具有重要意义。

【关键词】彩色超声；胎儿畸形；颜面部；母体血清学；筛查【中图分类号】R714.53【文献标识码】A【文章编号】1003—6350（2019）15—1999—03ClinicalvalueofcolorDopplerultrasoundandmaternalserologicalscreeninginthediagnosisoffetalfacialmalformation.RENShao-ting1,CHENBao-shan1,LIUXiang2.1.DepartmentofObstetricsandGynecology,theRehabilitationHospitalofShaanxiProvince,Xi'an710065,Shaanxi,CHINA;2.DepartmentofObstetricsandGynecology,theXi'anElectricPowerCenterHospitalofShaanxi,Xi'an710032,Shaanxi,CHINA

【Abstract】ObjectiveToexploretheclinicalvalueofcolorDopplerultrasonographyandmaternalserologicalscreeninginthediagnosisoffetalfacialmalformation.MethodsAtotalof3621pregnantwomeninthesecondtri-mesterofpregnancyforantenatalscreeninginDepartmentofObstetricsandGynecologyoftheRehabilitationHospitalofShaanxiProvincewereselectedfromAugust2017toJune2018wereenrolledinthisstudy.Allpregnantwomenwerescreenedforchromosomeabnormalitiesbymaternalchorionicgonadotropin(HCG),alpha-fetoprotein(AFP),andthefe-talfacialmalformationsweredeterminedbyultrasonography.Thediagnosticvalueofserologicalultrasoundinfetalfa-cialmalformationswasobservedandanalyzed.ResultsAmong3621pregnantwomenscreenedbyultrasoundalone,17cases(0.46%)ofabnormalfacialfetuseswerefound.Among3621pregnantwomen,271(7.48%)ofthehigh-riskpa-tientswerescreenedbythematernalserum,andthegeneticcounselingwasperformedonthepregnantwomen;theanaly-sisoftheamnioticfluidpunctureconfirmed20casesofchromosomalabnormalities,ofincluding11casesof18-three-bodysyndromeand9casesofDown's(21-trisomy)syndrome.For20casesofabnormalfetus,19casesoffa-cialdeformitywerefoundbyultrasonography,including10casesofcleftlipandpalate,2casesofCleftlip,3casesofnasalboneloss,andonecaseforforebrainnofissure,externaleardeformity,smallmandible,andnoeyedeformityeach.For19casesoffetalfacialmalformationscreenedbyserologyandultrasound,allwereconfirmedbyinducedlabororbirth.Afterbirth,themisseddiagnosisrateofultrasoundalonescreeningwas15.0%(3/20),whichwassignificantlyhigherthan5.0%(1/20)ofserologycombinedwithultrasonicscreening(P<0.05).ConclusionMaternalserologycom-binedwithcolorultrasoundcaneffectivelyscreenfetalfacialmalformationsinthesecondtrimesterofpregnancy,anditisofgreatsignificancetoimprovethequalityofnewbornsinChina.

【Keywords】Colorultrasound;Fetalmalformation;Facial;Maternalserology;Screening

胎儿颜面部畸形主要有唇、眼畸形及前脑无裂等，其中以鼻、耳、唇畸形较为常见，严重影响了新生儿出生质量[1-2]。因此，及早进行超声筛查，诊断胎儿颜面部畸形可提高出生人口素质。超声筛查是产前胎儿畸形的常用手段，但目前国内超声诊断孕早期胎

通讯作者：任少婷，E-mail：kangfurencai369@sina.com

儿颜面部畸形的有效率较低[3]。母体血清学筛查是一

种无创检查，可与超声联合应用于孕早、中期胎儿畸形的筛查中[4]。本研究采用超声检测与母体血清学筛查诊断胎儿颜面部畸形的情况，评价联合筛查的临床诊断价值，现将结果报道如下：

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