Gupta J K, Cave M, Lilford R J, Farrell T A, Irving H C, Mason G, Hau C M
Department of Obstetrics and Gynaecology, Ninewells Hospital and Medical School, Dundee, UK.
Lancet. 1995 Sep 16;346(8977):724-9. doi: 10.1016/s0140-6736(95)91502-8.
Choroid plexus (CP) cysts are commonly detected on routine mid-trimester ultrasound scan. When associated anomalies are detected, the risk is sufficient to justify an invasive diagnostic test such as amniocentesis. However, the risk when no associated anomalies are detected is much less well defined. This information is required to determine the appropriate management in cases of apparently isolated CP cysts. We thought the only way to resolve the difficulties in counselling prospective parents was to conduct a prospective study in a large unselected population. A registry of fetal CP cysts detected over 3 years in the Yorkshire Region was compiled and we identified 524 CP cysts. These cases were then amalgamated and analysed with 1361 cases from prospective studies reported in the world English literature and a further 71 unpublished cases identified from a 2 year prospective series from Ninewells Hospital, Dundee. The risk of chromosomal abnormalities was 1 in 150 (95% CI 1 in 85, 1 in 261) when no fetal anatomic abnormalities, apart from the CP cysts themselves, were detected antenatally. The risk increased to approximately 1 in 3 if any other associated ultrasound abnormalities were detected antenatally. The risk did not appear to be related to whether or not cyst size diminished as gestation progresses, whether they were unilateral or bilateral, and whether they were small or large in size (60-80% < 10 mm). 76% of aneuploidic cases were trisomy 18 and 17% were trisomy 21. The risk of Down's syndrome in fetuses with CP cysts but no other anomalies detected antenatally is 1 in 880. The probability of a chromosomal abnormality is high when CP cysts are associated with any other antenatally detected anomaly, indicating a clear need to offering amniocentesis. The predictive value is much lower when no other anomalies are detected. In such cases, it is probably advisable to regard CP cysts as an indication for detailed ultrasound assessment, rather than invasive testing.
脉络丛（CP）囊肿在孕中期常规超声扫描时很常见。当检测到相关异常时，风险足以证明进行羊膜穿刺术等侵入性诊断检查是合理的。然而，未检测到相关异常时的风险则定义得不太明确。确定明显孤立性CP囊肿病例的适当管理需要这些信息。我们认为，解决向准父母咨询困难的唯一方法是在大量未经过筛选的人群中进行前瞻性研究。我们编制了一份在约克郡地区3年内检测到的胎儿CP囊肿登记册，共识别出524例CP囊肿。然后将这些病例与世界英文文献中报道的前瞻性研究中的1361例病例以及邓迪九井医院2年前瞻性系列研究中识别出的另外71例未发表病例合并并进行分析。如果产前未检测到除CP囊肿本身之外的任何胎儿解剖异常，染色体异常的风险为1/150（95%可信区间为1/85至1/261）。如果产前检测到任何其他相关超声异常，风险则增至约1/3。风险似乎与囊肿大小是否随孕周增加而减小、是单侧还是双侧以及大小（60 - 80% < 10 mm）无关。76%的非整倍体病例为18三体，17%为21三体。产前检测到有CP囊肿但无其他异常的胎儿患唐氏综合征的风险为1/880。当CP囊肿与产前检测到的任何其他异常相关时，染色体异常的概率很高，这表明显然需要进行羊膜穿刺术。当未检测到其他异常时，预测价值要低得多。在这种情况下，将CP囊肿视为详细超声评估的指征可能比进行侵入性检测更为可取。
