Specific ultrasound findings associated with fetal chromosome abnormalities

Cytogenetic amniocentesis (CA) has been performed as a reliable prenatal diagnostic method for decades. The aims of the present study were to reveal the frequency of fetal chromosome abnormalities according to medical indica- tions of CA, and to assess the risks of specific abnormal ultra- sound findings. Data on chromosome karyotypes of fetuses from 5043 Japanese mothers were collected. Group I comprised 4626 fetuses whose mothers underwent CA due to a variety of paren- tal reasons. Group II comprised 417 fetuses whose mothers underwent CA due to fetal abnormality, abnormality of amni- otic fluid volume and fetal growth restriction. The frequency of chromosome abnormalities in Group II (17.7%) was signifi- cantly higher than in Group I (1.8%). The frequencies of chro- mosome abnormalities in Group II singleton fetuses with fetal abnormality, polyhydramnios and fetal growth restriction were 21.5, 22.9 and 19.6%, respectively. By multivariate analyses, we found that cystic hygroma (odds ratio 5.6, 95% CI 2.7-11.6), abnormal extremity (5.0, 1.7-14.4) and cardiovascular abnor- mality (3.3, 1.1-10.1) were significant variants associated with fetal chromosomal abnormalities. Information revealed in the present study constitutes a beneficial reference for genetic counseling.