超声检查对侵入性产前诊断价值  

Value of ultrasonography to the invasive prenatal diagnosis

作　　者：杨烨 陈桂兰 屈艳霞 唐芳 卢航 江帆 吴伟雄 

机构地区：[1]广州市人口和计划生育科研所,510410

出　　处：《中华实用诊断与治疗杂志》2015年第4期391-392,395,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：国家十一五科技支撑计划(2006BAI05A02);广东省计生委基金支持项目(2009208;20110239)

摘　　要：目的探讨产前超声检查异常对行侵入性产前诊断的价值。方法 2010年1月—2011年12月广州市出生缺陷重点病种干预项目共纳入27 660例孕妇行孕中期产前超声筛查,其中157例产前超声筛查提示胎儿异常者行侵入性产前诊断,总结其超声征象,分析侵入性产前诊断结果。结果超声筛查胎儿多发畸形或胎儿畸形伴羊水量异常40例,侵入性产前诊断显示胎儿染色体异常核型8例;超声筛查胎儿有水肿表现10例,侵入性产前诊断明确α型地中海贫血-1的纯合子7例、45XO 2例、Y染色体多态性1例;超声筛查单一结构异常或羊水量异常107例,侵入性产前诊断显示胎儿染色体核型异常4例,其余103例胎儿染色体核型未见异常者中,4例唐氏综合征血清学筛查为高风险或临界风险;1例早孕期胎儿颈项透明层2.7mm。结论超声筛查提示多发畸形或胎儿畸形伴羊水量异常者应行侵入性产前诊断,而单一结构异常或羊水量异常者应慎行;胎儿水肿征有助于诊断胎儿α型地中海贫血或血红蛋白H病。Objective To study the value of ultrasonography to the invasive prenatal diagnosis.Methods A total of27 660 pregnant women included in Guangzhou Intervention Program of the Main Birth Defects Related Disease Category received prenatal ultrasonography screening during their second trimester of pregnancy from January 2010 to December2011,in which 157 cases received invasive prenatal diagnosis due to prenatal ultrasonography abnormities.The ultrasonic characteristics of those receiving invasive prenatal diagnosis were summarized and the results were analyzed.Results Prenatal ultrasonography showed 40 cases of fetal multiple malformations and/or abnormal amniotic fluid volume,in which 8fetuses were found chromosomal abnormalities by invasive prenatal diagnosis.In 10 cases of fetal edema diagnosed by ultrasonography,invasive prenatal diagnosis foundα-thalassemia homozygote in 7,45 XO in 2and Y chromosome polymorphism in 1.In 107 cases of one structural malformation or abnormal amniotic fluid volume diagnosed by prenatal ultrasonography,invasive prenatal diagnosis found 4fetuses of chromosomal abnormalities and 103 of normal chromosome including 4cases of high-risk or critical-risk Downs syndrome by prenatal serological screening and 1case of2.7-mm-thick fetal nuchaltranslucency in the first trimester by ultrasound.Conclusion Invasive prenatal diagnosis is suggested to be done if ultrasonography reveals fetal multiple malformations or abnormal amniotic fluid volume,while it would be cautiously chosen for those with single soft marker or abnormal amniotic fluid volume.Fetal edema contributes to the diagnosis of severeα-thalassemia or Hemoglobin H disease.

关 键 词：超声 产前诊断 侵入性 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.15[医药卫生—诊断学]