Morcos C L, Platt L D, Carlson D E, Gregory K D, Greene N H, Korst L M
Department of Obstetrics and Gynecology, Burns and Allen Research Institute of Cedars-Sinai Medical Center, University of California--Los Angeles School of Medicine, 90048, USA.
Obstet Gynecol. 1998 Aug;92(2):232-6. doi: 10.1016/s0029-7844(98)00204-x.
To describe the karyotypes of a population of fetuses with choroid plexus cysts and compare affected fetuses with and without additional ultrasonographic findings.
The study population included all patients undergoing second-trimester ultrasound examination in a prenatal diagnostic program between January 1993 and October 1995. The records of all cases in which a choroid plexus cyst was found were reviewed, and information was abstracted regarding the fetal karyotype and the presence of other sonographic abnormalities.
Two hundred ten cases of choroid plexus cysts were identified among 7617 patients (2.8%) who underwent second-trimester ultrasound examination. The majority of the cases (181, or 86%) involved isolated choroid plexus cysts and the remaining 29 (14%) were associated with additional ultrasonographic findings. Autosomal aneuploidy was found in one patient with an isolated choroid plexus cyst (trisomy 21) and in another with additional findings (trisomy 18); the mothers of both of these patients were at least 35 years old. For those fetuses with known outcome, the risk of aneuploidy with isolated choroid plexus cyst (one in 180) was not statistically significantly different from that associated with choroid plexus cyst accompanied by other sonographic findings (one in 26). More than 1000 fetuses with choroid plexus cysts would have to be studied to determine whether such a difference was real.
Because of the rarity of aneuploidy, the reported risk for a fetus with an isolated choroid plexus cyst must be interpreted cautiously and should include the baseline risk.
描述患有脉络丛囊肿的胎儿群体的核型，并比较有和没有其他超声检查结果的受影响胎儿。
研究群体包括1993年1月至1995年10月期间在产前诊断项目中接受孕中期超声检查的所有患者。回顾了所有发现脉络丛囊肿的病例记录，并提取了有关胎儿核型和其他超声异常情况的信息。
在7617例接受孕中期超声检查的患者中，共识别出210例脉络丛囊肿病例（2.8%）。大多数病例（181例，占86%）为孤立性脉络丛囊肿，其余29例（14%）伴有其他超声检查结果。在1例孤立性脉络丛囊肿患者（21三体）和另1例有其他检查结果的患者（18三体）中发现了常染色体非整倍体；这两名患者的母亲年龄均至少为35岁。对于那些已知结局的胎儿，孤立性脉络丛囊肿的非整倍体风险（1/180）与伴有其他超声检查结果的脉络丛囊肿的风险（1/26）在统计学上无显著差异。必须研究1000多个患有脉络丛囊肿的胎儿，才能确定这种差异是否真实存在。
由于非整倍体情况罕见，对于报告的孤立性脉络丛囊肿胎儿的风险必须谨慎解读，且应包括基线风险。
