Platt L D, Carlson D E, Medearis A L, Walla C A
Department of Obstetrics and Gynecology, Los Angeles County-University of Southern California Women's Hospital, Los Angeles.
Am J Obstet Gynecol. 1991 Jun;164(6 Pt 1):1652-5; discussion 1655-6. doi: 10.1016/0002-9378(91)91451-2.
Controversy surrounds the issue of recommending cytogenetic studies in second-trimester fetuses with fetal choroid plexus cysts. To assist in clarifying this issue, a prospective study was designed to describe the association between fetal choroid plexus cysts and aneuploidy in a large population. During a 3-year period 7350 women at 15 to 22 weeks' gestation underwent an ultrasonographic evaluation. Fetal choroid plexus cysts were diagnosed in 71 (0.96%) of these pregnancies. Sixty-two of the 71 patients elected to undergo amniocentesis. An abnormal karyotype was identified in four (6.4%) of these fetuses. One fetus had trisomy 21, and three fetuses were diagnosed with trisomy 18. These data indicate that it is reasonable to offer genetic counseling and cytogenetic studies in those patients identified as having a fetal choroid plexus cyst.
对于在孕中期发现胎儿脉络丛囊肿的情况，是否推荐进行细胞遗传学研究存在争议。为了帮助阐明这一问题，设计了一项前瞻性研究，以描述在大量人群中胎儿脉络丛囊肿与非整倍体之间的关联。在3年期间，对7350名妊娠15至22周的妇女进行了超声评估。这些妊娠中有71例（0.96%）诊断出胎儿脉络丛囊肿。71例患者中有62例选择进行羊水穿刺。这些胎儿中有4例（6.4%）被鉴定出核型异常。1例胎儿为21三体，3例胎儿被诊断为18三体。这些数据表明，为那些被确定有胎儿脉络丛囊肿的患者提供遗传咨询和细胞遗传学研究是合理的。
