title: Sonographic markers for early diagnosis of fetal malformations.
abstract: 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.).
authors.affiliation: Maria Daniela Renna, Paola Pisani, Francesco Conversano, Ernesto Casciaro, Marco Di Paola, Sergio Casciaro, National Council of Research, Institute of Clinical Physiology, c/o Campus Universitario Ecotekne, 73100 Lecce, Italy.
authors.forename: Maria Daniela
authors.initials: MD
authors.lastname: Renna
authors.forename: Paola
authors.initials: P
authors.lastname: Pisani
authors.forename: Francesco
authors.initials: F
authors.lastname: Conversano
authors.forename: Emanuele
authors.initials: E
authors.lastname: Perrone
authors.forename: Ernesto
authors.initials: E
authors.lastname: Casciaro
authors.forename: Gian Carlo Di
authors.initials: GC
authors.lastname: Renzo
authors.forename: Marco Di
authors.initials: MD
authors.lastname: Paola
authors.forename: Antonio
authors.initials: A
authors.lastname: Perrone
authors.forename: Sergio
authors.initials: S
authors.lastname: Casciaro
keywords: Chromosome abnormalities; Fetal echocardiography; Nuchal translucency; Prenatal diagnosis; Prenatal sonography; Skeletal dysplasia