Porto M, Murata Y, Warneke L A, Keegan K A
Department of Obstetrics and Gynecology, University of California-Irvine, Orange.
J Clin Ultrasound. 1993 Feb;21(2):103-8. doi: 10.1002/jcu.1870210205.
As a result of numerous conflicting reports, we designed a prospective controlled study to determine the inherent risk of aneuploidy with second-trimester fetal choroid plexus cysts. Our controls were patients who had ultrasonography and genetic amniocentesis, between 15 weeks and 22 weeks, menstrual age, by the same sonologist on the same day as a study subject with a choroid plexus cyst. Sixty-three cases of fetal choroid plexus cysts were detected in 3247 second-trimester examinations (1.9%). Six chromosomally abnormal fetuses [Trisomy 18 (3), Down syndrome (2), Klinefelter syndrome] were found in the cyst group (9.5%) with only one Trisomy 21 among the controls (0.5%) (p < .002). Of note, 5 of 21 (23.8%) fetuses with cysts greater than 5 mm in diameter had aneuploidy, as compared with only 1 of 42 (2.4%) chromosomal anomalies with smaller cysts (p < .02). We conclude that fetal choroid plexus cysts are an independent risk factor for chromosomal anomalies; genetic counseling and prenatal chromosomal analysis are indicated.
由于存在大量相互矛盾的报告，我们设计了一项前瞻性对照研究，以确定孕中期胎儿脉络丛囊肿的非整倍体固有风险。我们的对照组是在月经龄15至22周期间接受超声检查和基因羊膜穿刺术的患者，由同一位超声科医生在与有脉络丛囊肿的研究对象同一天进行检查。在3247例孕中期检查中检测到63例胎儿脉络丛囊肿（1.9%）。囊肿组中发现6例染色体异常胎儿[18三体（3例）、唐氏综合征（2例）、克兰费尔特综合征]，而对照组中仅1例21三体（0.5%）（p<0.002）。值得注意的是，直径大于5mm的囊肿胎儿中有21例中的5例（23.8%）存在非整倍体，而囊肿较小的胎儿中42例中仅1例（2.4%）有染色体异常（p<0.02）。我们得出结论，胎儿脉络丛囊肿是染色体异常的独立危险因素；建议进行遗传咨询和产前染色体分析。
