Bratta F G, Romano F, Di Naro E, Comi N, Loizzi P
Istituto di Clinica Ostetrica e Ginecologica I, Facoltà di Medicina e Chirurgia, Università degli Studi di Bari.
Minerva Ginecol. 1993 Jun;45(6):303-5.
The clinical significance of the fetal choroid plexus cysts, observed by prenatal sonographic examination, is now a days still discussed. A consequence of this situation is the discordance of opinions about the question of whether karyotype analysis is always necessary to evaluate chromosomal anomalies sometimes correlated, especially in the presence of (as some authors have reported) large (> 1 cm), bilateral, persistent cysts and of other structural abnormalities. We have effected a prospective study to estimate the incidence of fetal choroid plexus cysts and to establish the obstetrical behaviour to be adapted in these cases. During 834 routine ultrasonographic examinations at 18-21 weeks' gestational age, we have evaluated the presence of fetal choroid plexus cysts in 9 fetuses, with an incidence of 1.07%. Three of these cysts were larger than 1 cm, three were bilateral. Karyotype analysis, effected in all cases, diagnosed a case of Trisomy 18 in a fetus who ultrasonographically showed, in addition to a unilateral cyst of 1.2 cm, also a diaphragmatic hernia. Careful ultrasound follow-up revealed that all the cysts disappeared spontaneously, but two of them (whose dimensions were larger than 1 cm) were still visible at 24 weeks' gestation and probably this age will be too advanced to begin a chromosome analysis. In conclusion, we think that the presence of fetal choroid plexus cysts always imposes a careful ultrasonographic evaluation of fetal morphology and, since there is always the risk that other small fetal anomalies (evocative of abnormal fetal karyotypes) wight not be noted, we believe that it is better, in any case, to recommend to the patient a prenatal cytogenetical analysis.
产前超声检查所观察到的胎儿脉络丛囊肿的临床意义，至今仍在讨论中。这种情况的一个后果是，对于评估有时与之相关的染色体异常（特别是在存在一些作者所报道的大的（>1cm）、双侧、持续性囊肿及其他结构异常的情况下）是否总是需要进行核型分析这一问题，存在意见分歧。我们进行了一项前瞻性研究，以估计胎儿脉络丛囊肿的发生率，并确定在这些病例中应采取的产科处理方法。在834例孕18 - 21周的常规超声检查中，我们评估了9例胎儿存在脉络丛囊肿，发生率为1.07%。其中3个囊肿大于1cm，3个为双侧性。所有病例均进行了核型分析，诊断出1例18三体胎儿，该胎儿超声检查除显示一个1.2cm的单侧囊肿外，还伴有膈疝。仔细的超声随访显示，所有囊肿均自发消失，但其中2个（直径大于1cm）在孕24周时仍可见，而这个孕周可能对于开始染色体分析来说已经太晚。总之，我们认为胎儿脉络丛囊肿的存在总是需要对胎儿形态进行仔细的超声评估，并且由于始终存在可能未注意到其他小的胎儿异常（提示胎儿核型异常）的风险，我们认为无论如何，最好向患者推荐进行产前细胞遗传学分析。
