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 ...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.).展开更多
We are witnessing more and more frequently multiple pregnancy in this world.Multiple pregnancies are increasing globally,in keeping with lifestyle changes(consistently increasing overweight and obesity in women of rep...We are witnessing more and more frequently multiple pregnancy in this world.Multiple pregnancies are increasing globally,in keeping with lifestyle changes(consistently increasing overweight and obesity in women of reproductive age almost everywhere),an increase in maternal age at first pregnancy(especially in high income countries),and with the widespread use of medically assisted reproductive techniques(ART).Although obstetric risks related to ART are significantly elevated independently from multifetality,there is an increasing trend of twinning in infertile patients,in the obese and in those with the polycystic ovary syndrome.展开更多
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
文摘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.).
文摘We are witnessing more and more frequently multiple pregnancy in this world.Multiple pregnancies are increasing globally,in keeping with lifestyle changes(consistently increasing overweight and obesity in women of reproductive age almost everywhere),an increase in maternal age at first pregnancy(especially in high income countries),and with the widespread use of medically assisted reproductive techniques(ART).Although obstetric risks related to ART are significantly elevated independently from multifetality,there is an increasing trend of twinning in infertile patients,in the obese and in those with the polycystic ovary syndrome.