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Objectives: 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.

Objective: To determine whether iliac wing angle measurement in second trimester fetuses is a useful sonographic marker for the detection of trisomy 21, 18 and 13. Methods: During the period between September 1998 and September 2001, 406 fetal iliac angle measurements were performed in women in the second trimester of their pregnancies. The iliac angle measurements in fetuses with trisomy 21 (n = 25), trisomy 18 (n = 10) and trisomy 13 (n = 5) were compared with iliac angle measurement in fetuses with normal karyotypes (n = 333). Results: The mean iliac wing angle in the fetuses with trisomy 21 was 92.67 and 79.35° and 74° in fetuses with trisomy 18 and 13 (the mean iliac wing angle in the healthy fetuses was 70.09°). Conclusion: The proven larger iliac wing angle in neonates with Down’s syndrome can be demonstrated sonographically during the pregnancy, especially during the second trimester, and may be useful in prenatal screening of trisomy 21. The sonographic measurement of the fetal iliac angle cannot be used as a marker for trisomy 18 and 13. We have shown that fetuses with trisomy 18 and 13, on average, have iliac angles only a few degrees larger than healthy fetuses.