Rotmensch S, Luo J S, Nores J A, Dimaio M S, Hobbins J C
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT 06510-8063.
Am J Obstet Gynecol. 1992 Feb;166(2):591-2. doi: 10.1016/0002-9378(92)91680-9.
Whether karyotyping is indicated in a fetus with choroid plexus cysts who is otherwise structurally normal is still controversial. Many authors have suggested basing the decision on cyst size, bilaterality, persistence with advancing gestational age, and association with other anomalies. We report a case of large bilateral choroid plexus cysts in a fetus with trisomy 21 who had no evidence of congenital anomalies or ultrasonographic signs of Down syndrome. Cyst sizes diminished by half over a 3-week period of follow-up. It appears that diminishing size alone should not be considered sufficient reassurance about the normality of the fetal karyotype. A similar case has been previously reported, and it is conceivable that choroid plexus cysts are associated not only with trisomy 18 but also with trisomy 21.
对于结构上无其他异常的脉络丛囊肿胎儿，是否进行核型分析仍存在争议。许多作者建议根据囊肿大小、双侧性、随孕周增加是否持续存在以及与其他异常的关联来做出决定。我们报告一例21三体胎儿出现双侧大脉络丛囊肿，该胎儿无先天性异常证据或唐氏综合征的超声征象。在3周的随访期内，囊肿大小减半。似乎仅囊肿大小缩小不应被视为对胎儿核型正常的充分保证。此前曾报道过类似病例，可以想象脉络丛囊肿不仅与18三体有关，还与21三体有关。
