The authors investigate the rate of trisomies and other chromosomal abnormalities in case of bilateral and unilateral choroid plexus cysts. They performed chromosomal analysis in 390 cases with choroid plexus cysts. The total risk of chromosomal anomalies was 3.59% (14 cases), the risk of trisomies was 2.05% (8 cases). They found trisomy 18 in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X0 karyotype was found to be 0.77% (3 cases). They found 1 case of 47,XXY karyotype, and 2 cases of other chromosomal abnormalities (46,XX/46,XY mosaicism, 46,XY/47,XXY/47,XYY mosaicism). The choroid plexus cyst was unilateral in 212 cases, and in 7 cases chromosomal anomalies were also detected (3.3%). In case of bilateral choroid plexus cysts 178 karyotypings were performed, with 7 cases yielding abnormal karyotypes (3.93%). The difference was not significant. The choroid plexus cyst was also associated with additional fetal sonographic anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases, and chromosomal anomalies were detected, too in 4 cases (3.57%). There were 66 cases associated with polyhydramnios or oligohydramnios, but not with any other fetal sonographically detectable defects, and in 3 cases abnormal karyotypes (4.55%) were found. The choroid plexus cyst was observed as an isolated ultrasound finding in 212 cases, and in 7 cases it was associated with chromosomal disorders (3.3%).
|Translated title of the contribution||The risk of chromosomal abnormalities in the presence of bilateral or unilateral choroid plexus cysts|
|Number of pages||8|
|Journal||Magyar Noorvosok Lapja|
|Publication status||Published - Feb 14 2007|
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology