Burrows A, Ramsden G H, Frazer M I
Department of Obstetrics and Gynaecology, Gold Coast Hospital, Southport, Queensland.
Aust N Z J Obstet Gynaecol. 1993 Aug;33(3):262-4. doi: 10.1111/j.1479-828x.1993.tb02081.x.
Choroid plexus cysts may be detected in the fetal choroid plexus on routine second trimester ultrasound scanning. The presence of these cysts is associated with trisomy 18 (Edward syndrome) in 3.47% of cases and with trisomy 21 (Down syndrome) in 0.46% of cases. The cysts themselves almost always disappear by 23 weeks and are thought to be a normal developmental variant. The world literature experience would indicate that the size of the choroid plexus cyst and the presence of bilateral cysts has no bearing on the magnitude of risk of chromosomal abnormality; 76% of babies with trisomy 18 also have other dysmorphic features which may be detectable by ultrasound. It is strongly advised that genetic counselling be undertaken and amniocentesis be considered when choroid plexus cysts are identified in the fetus.
在孕中期常规超声扫描时，可在胎儿脉络丛中检测到脉络丛囊肿。这些囊肿的存在与18三体综合征（爱德华兹综合征）在3.47%的病例中相关，与21三体综合征（唐氏综合征）在0.46%的病例中相关。囊肿本身几乎总是在23周时消失，被认为是一种正常的发育变异。世界文献经验表明，脉络丛囊肿的大小和双侧囊肿的存在与染色体异常风险的大小无关；76%的18三体综合征婴儿也有其他可通过超声检测到的畸形特征。当在胎儿中发现脉络丛囊肿时，强烈建议进行遗传咨询并考虑羊膜穿刺术。
