title: [Echographic markers of fetal chromosomopathies. Diagnostic possibilities with transvaginal ultrasonography and our experience].
abstract: 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.
authors.affiliation: Istituto di Clinica Ostetrica e Ginecologica, Università Cattolica del Sacro Cuore, Roma.
authors.forename: L
authors.initials: L
authors.lastname: Guariglia
authors.forename: P
authors.initials: P
authors.lastname: Rosati
mesh_terms: 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
chemical_list: D005819:Genetic Markers