PMID: 9557478Apr 29, 1998Paper

Echographic markers of fetal chromosomopathies. Diagnostic possibilities with transvaginal ultrasonography and our experience

Minerva ginecologica
L Guariglia, P Rosati

Abstract

Aim of this study was to evaluate, during early pregnancy, the correlation of some anomalies and malformations with fetal chromosomopathies. Morphostructural and biometric anomalies in chromosomopathic fetuses were evaluated. 1331 pregnancies at high risk for genetic disease and malformations referred to our center for prenatal diagnosis. Scans were performed using endovaginal convex probes (5.0 to 7.0 MHz). Urinary, cardiac and cerebral malformations as well as alterations of bone growth were evaluated. With respect to the other malformations, cystic hygroma is more frequently associated with an abnormal fetal karyotype. The majority of morphostructural abnormalities diagnosed during first trimester by transvaginal sonography cannot, in according to personal experience, be used as markers of chromosomopathies.

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