Risk of chromosome abnormalities in the presence of bilateral or unilateral choroid plexus cysts.
OBJECTIVE
To evaluate the rate of chromosome abnormalities in cases of uni- and bilateral choroid plexus cysts (CPCs).


METHODS
A total of 10,875 ultrasound (US) examinations were performed in the second trimester, and 435 cases with CPC (4%) were found. After genetic counseling, 45 patients decided not to undergo karyotyping. The authors performed a chromosome analysis in 390 cases of CPCs.


RESULTS
The total risk of chromosome abnormalities was 3.59% (n = 14) and risk of trisomies was 2.05% (n = 8). Trisomy 18 was found in 6 cases (1.54%), trisomy 21 in 1 case (0.26%), and trisomy 9 in 1 case (0.26%). The risk of 45,X karyotype was 0.77% (n = 3). One case of 47,XXY karyotype and 2 cases with other chromosome abnormalities were found. In 212 unilateral cases there were 7 with chromosome abnormalities (3.3%). In 178 bilateral cases there were 7 with abnormal karyotypes (3.93%). The CPC was associated with additional fetal US anomalies (with or without polyhydramnios/oligohydramnios) in 112 cases; chromosome abnormalities were detected in 4 cases (3.57%). 66 cases were associated with polyhydramnios/oligohydramnios but not with other fetal US anomalies; 3 cases of abnormal karyotypes were found (4.55%). The CPC was isolated in 212 cases and 7 cases were associated with chromosome disorders (3.3%).


CONCLUSIONS
US plays an important role in prenatal diagnostics. Further genetic counseling is recommended in cases with CPCs.
Beke
Artúr
A
First Department of Obstetrics and Gynecology, Medical School, Semmelweis University, Budapest, Hungary. beke@noi1.sote.hu
Barakonyi
Emese
E
Belics
Zorán
Z
Joó
József G
JG
Csaba
Akos
A
Papp
Csaba
C
Tóth-Pál
Erno
E
Papp
Zoltán
Z
D020863:Central Nervous System Cysts / Q000151:congenital* / Q000000981:diagnostic imaging; D002831:Choroid Plexus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D012189:Retrospective Studies; D012307:Risk Factors; D012729:Sex Chromosome Aberrations; D014314:Trisomy; D016216:Ultrasonography, Prenatal; D014997:XYY Karyotype