Sohn C, Gast A S, Krapfl E
Department of Gynecology and Obstetrics, University of Heidelberg, Germany.
Fetal Diagn Ther. 1997 Sep-Oct;12(5):255-9. doi: 10.1159/000264480.
Offering invasive prenatal cytogenetic testing in cases of isolated choroid plexus cysts is controversial. To give a contribution to this discussion we recorded prospectively the course of 41 fetuses with cysts of the choroid plexus diagnosed in 4,326 pregnancies sonographically scanned in our center between January 1994 and August 1995. The fetuses were all in the 13th to 24th week of gestation, with an average of 19.3 weeks. Only 1 of these fetuses (with large bilateral choroid plexus cysts) had further sonographically visible malformations (renal and cardiac anomalies, malposition of the hands). 34 fetuses had bilateral and 7 one-sided plexus cysts. 38 of the 41 patients decided on invasive diagnosis; karyotyping was successful in all these cases. The complete follow-up until 5 days after birth is known in 38 fetuses, including 3 without genetic diagnosis. A chromosomal aberration was detectable only in 1 fetus (trisomy 18, this fetus had the additional malformations described above), the other fetuses all displaying neither chromosomal nor morphological abnormalities. All fetuses, excluding 1 (the pregnancy was terminated due to trisomy 18) were re-examined before the 25th week of gestation, plexus cysts only still being visible in 3 fetuses. By the 30th week of gestation in these 3 fetuses the cysts had also disappeared. Furthermore, 20 pregnancies with confirmed trisomy 18 diagnosed between 1990 and 1996 were analyzed retrospectively. In 19 cases heart defects had been detected by prenatal ultrasound, cervical hygroma being less common (6 cases) and other malformations still rarer. Choroid plexus cysts had, however, been seen only in the 1 case described above. There was no case of isolated choroid plexus cysts in this group. From our data and current literature we conclude that isolated choroid plexus cysts are not an absolute indication for fetal karyotyping. In our opinion a detailed ultrasound assessment to seek for further malformations in a specialized center would be necessary if fetal choroid plexus cysts have been diagnosed, and only if additional fetal malformations are indeed detectable a fetal karyotype should be recommended.
对于单纯性脉络丛囊肿病例提供侵入性产前细胞遗传学检测存在争议。为了对这一讨论做出贡献，我们前瞻性记录了1994年1月至1995年8月在我们中心超声扫描的4326例妊娠中诊断出的41例脉络丛囊肿胎儿的情况。这些胎儿均处于妊娠13至24周，平均为19.3周。这些胎儿中只有1例（双侧脉络丛囊肿较大）有进一步超声可见的畸形（肾脏和心脏异常、手部位置异常）。34例胎儿为双侧囊肿，7例为单侧囊肿。41例患者中有38例决定进行侵入性诊断；所有这些病例的核型分析均成功。38例胎儿直至出生后5天的完整随访情况已知，其中3例未进行基因诊断。仅在1例胎儿中检测到染色体畸变（18三体，该胎儿有上述其他畸形），其他胎儿均未显示染色体或形态异常。除1例（因18三体终止妊娠）外，所有胎儿在妊娠25周前再次接受检查，只有3例胎儿仍可见脉络丛囊肿。在这3例胎儿妊娠30周时囊肿也已消失。此外，回顾性分析了1990年至1996年间确诊的20例18三体妊娠。19例产前超声检测到心脏缺陷，颈部水囊瘤较少见（6例），其他畸形更罕见。然而，仅在上述1例中发现脉络丛囊肿。该组中无单纯性脉络丛囊肿病例。根据我们的数据和当前文献，我们得出结论，单纯性脉络丛囊肿并非胎儿核型分析的绝对指征。我们认为，如果诊断出胎儿脉络丛囊肿，在专业中心进行详细的超声评估以寻找其他畸形是必要的，并且只有在确实检测到其他胎儿畸形时才应推荐进行胎儿核型分析。
