Sonographic markers for early diagnosis of fetal malformations  

作　　者：Maria Daniela Renna Paola Pisani Francesco Conversano Emanuele Perrone Ernesto Casciaro Gian Carlo Di Renzo Marco Di Paola Antonio Perrone Sergio Casciaro 

机构地区：[1]National Council of Research, Institute of Clinical Physiology, c/o Campus Universitario Ecotekne [2]Department of Ob-stetrics and Gynecology, University of Perugia, Santa Maria della Misericordia University Hospital [3]Obstetrics and Gynecology Department, "Vito Fazzi" Hospital, Piazza Filippo Muratore

出　　处：《World Journal of Radiology》2013年第10期356-371,共16页世界放射学杂志（英文版）（电子版）

基　　金：Supported by FESR P.O.Apulia Region 2007-2013-Action 1.2.4(grant number 3Q5AX31);the National Council of Research Project AMOLAB

摘　　要：Fetal malformations are very frequent in industrialized countries.Although advanced maternal age may affect pregnancy outcome adversely,80%-90%of fetal malformations occur in the absence of a specific risk factor for parents.The only effective approach for prenatal screening is currently represented by an ultrasound scan.However,ultrasound methods present two important limitations:the substantial absence of quantitative parameters and the dependence on the sonographer experience.In recent years,together with the improvement in transducer technology,quantitative and objective sonographic markers highly predictive of fetal malformations have been developed.These markers can be detected at early gestation(11-14 wk)and generally are not pathological in themselves but have an increased incidence in abnormal fetuses.Thus,prenatal ultrasonography during the second trimester of gestation provides a"genetic sonogram",including,for instance,nuchal translucency,short humeral length,echogenic bowel,echogenic intracardiac focus and choroid plexus cyst,that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%.Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies.In the future,sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis(amniocentesis,etc.).Fetal malformations are very frequent in industrialized countries.Although advanced maternal age may affect pregnancy outcome adversely,80%-90%of fetal malformations occur in the absence of a specific risk factor for parents.The only effective approach for prenatal screening is currently represented by an ultrasound scan.However,ultrasound methods present two important limitations:the substantial absence of quantitative parameters and the dependence on the sonographer experience.In recent years,together with the improvement in transducer technology,quantitative and objective sonographic markers highly predictive of fetal malformations have been developed.These markers can be detected at early gestation(11-14 wk)and generally are not pathological in themselves but have an increased incidence in abnormal fetuses.Thus,prenatal ultrasonography during the second trimester of gestation provides a'genetic sonogram',including,for instance,nuchal translucency,short humeral length,echogenic bowel,echogenic intracardiac focus and choroid plexus cyst,that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%.Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies.In the future,sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis(amniocentesis,etc.).

关 键 词：PRENATAL diagnosis PRENATAL SONOGRAPHY Chromosome abnormalities NUCHAL TRANSLUCENCY Fetal echocardiography Skeletal DYSPLASIA 

分 类 号：R714.5[医药卫生—妇产科学]