Objective      To investigate the congenital anomalies and pathological features of fetuses with abnormal sex  chromosome

and integrate these features with clinical data and prenatal ultrasonographic results in order to provide more solid evidences for prenatal diagnosis.       Methods      A total of 2 338 pregnant women who need prenatal diagnosis in our center during April 2007 to August 2009 were enrolled in this study. Their samples of amniocentisis or cordocentesis of the fetuses were collected for cytogenetic analysis. After pregnancy termination

the fetuses were observed pathologically

and the results were analyzed and compared with prenatal ultrasound results.       Results      Among the 108 fetuses with congenital anomalies

there were 18 cases with sex chromosomal abnormalities. Eight of them showed abnormal phenotypes such as cystic hygroma and genital malformation

which were closely related with abnormal sex chromosome. Tuner syndrome was found in most features. Coronary naive uterine

heart deformity and cleft lip and palate were the most common abnormal phenotypes.       Conclusion      Sex chromosome abnormalities are one of reasons for fetal multiple deformities and gonadal dysgenesis. So clinical

cytogenetic

and ultrasound data should be integrally considered for proper prenatal diagnosis of fetus.