[Echographic markers of fetal chromosomopathies. Diagnostic possibilities with transvaginal ultrasonography and our experience].
OBJECTIVE
Aim of this study was to evaluate, during early pregnancy, the correlation of some anomalies and malformations with fetal chromosomopathies.


METHODS
Morphostructural and biometric anomalies in chromosomopathic fetuses were evaluated.


METHODS
1331 pregnancies at high risk for genetic disease and malformations referred to our center for prenatal diagnosis.


METHODS
Scans were performed using endovaginal convex probes (5.0 to 7.0 MHz).


METHODS
Urinary, cardiac and cerebral malformations as well as alterations of bone growth were evaluated.


RESULTS
With respect to the other malformations, cystic hygroma is more frequently associated with an abnormal fetal karyotype.


CONCLUSIONS
The majority of morphostructural abnormalities diagnosed during first trimester by transvaginal sonography cannot, in according to personal experience, be used as markers of chromosomopathies.
Guariglia
L
L
Istituto di Clinica Ostetrica e Ginecologica, Università Cattolica del Sacro Cuore, Roma.
Rosati
P
P
D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods
D005819:Genetic Markers