Reinsch R C
Department of Obstetrics and Gynecology, Kaiser Permanente, San Diego, CA 92110, USA.
Am J Obstet Gynecol. 1997 Jun;176(6):1381-3. doi: 10.1016/s0002-9378(97)70363-6.
The purpose of the study was to determine the incidence of isolated choroid plexus cysts in association with trisomy 18 and other abnormalities.
All patients from June 1992 through December 1995 were followed up after a screening ultrasonography. Any patient with a choroid plexus cyst was offered genetic counseling and an amniocentesis. Screening ultrasonographic examinations were performed on 16,059 patients, and 301 patients had a fetus with a choroid plexus cyst. One hundred thirty patients elected to have an amniocentesis. Patients were followed up to delivery.
Two hundred sixty-three patients had an isolated choroid plexus cyst. Thirty-eight patients had a choroid plexus cyst associated with additional risk factors. Risk factors included advanced maternal age, additional ultrasonographic abnormalities, past obstetric history, or family history. No abnormalities were noted in the group with an isolated choroid plexus cyst. Four patients had an abnormality when the choroid plexus cyst was associated with an additional risk factor, including two patients with trisomy 18 and one with trisomy 21.
An isolated choroid plexus cyst was not associated with a trisomy or other abnormalities in this study. When a choroid plexus cyst was associated with an additional risk factor, 10.5% of the patients had an abnormality. Amniocentesis is recommended when a choroid plexus cyst is found in association with additional risk factors.
本研究的目的是确定孤立性脉络丛囊肿与18三体及其他异常相关的发生率。
对1992年6月至1995年12月期间的所有患者在进行筛查超声检查后进行随访。任何患有脉络丛囊肿的患者都接受了遗传咨询和羊水穿刺检查。对16059例患者进行了筛查超声检查，其中301例患者的胎儿有脉络丛囊肿。130例患者选择进行羊水穿刺检查。对患者进行随访直至分娩。
263例患者有孤立性脉络丛囊肿。38例患者的脉络丛囊肿与其他危险因素相关。危险因素包括孕妇年龄偏大、其他超声异常、既往产科病史或家族病史。孤立性脉络丛囊肿组未发现异常。当脉络丛囊肿与其他危险因素相关时，4例患者有异常，其中2例为18三体，1例为21三体。
在本研究中，孤立性脉络丛囊肿与三体或其他异常无关。当脉络丛囊肿与其他危险因素相关时，10.5%的患者有异常。当发现脉络丛囊肿与其他危险因素相关时，建议进行羊水穿刺检查。
