脉络丛囊肿特征用于预测胎儿染色体异常

目的 评价脉络丛囊肿(CPC)特征用于预测胎儿染色体异常的价值。方法 纳入112胎产前超声诊断CPC胎儿,根据染色体检查结果分为异常组(n=8)及正常组(n=104);比较组间孕妇年龄、诊断胎儿CPC时间、CPC特征及是否合并其他结构异常等因素的差异,并采用后退法行logistic回归分析,筛选预测CPC胎儿染色体异常的独立因素并构建回归模型,评价其预测价值;记录胎儿结局。结果 8胎染色体异常,包括5胎18三体、1胎21三体、1胎染色体微缺失微重复及1胎染色体异位。组间囊肿数目及是否合并其他异常比例差异均有统计学意义(P均<0.05)。将囊肿数目及是否合并其他异常纳入回归方程,后者是预测胎儿染色体异常的独立因素(OR=19.865,P<0.05);该模型预测CPC胎儿染色体异常的曲线下面积为0.892,敏感度为87.50%,特异度为78.85%。异常组6胎接受引产,1胎早产、1胎足月顺产,出生后生长发育未见明显异常。正常组5胎接受引产或流产;99胎活产,出生前93胎囊肿消失、6胎至出生前囊肿仍存在。99例新生儿中,17例失访(其中5例出生前囊肿仍存在),80例生长发育无明显异常;1例出生后复查囊肿仍存在,1例诊断为孤独症。结论 CPC数目及是否合并其他结构异常可用于预测胎儿染色体异常。

Characteristics of choroid plexus cysts for predicting fetal chromosomal abnormalities

Objective To observe the value of choroid plexus cyst (CPC) characteristics for predicting fetal chromosomal abnormalities. Methods A total of 112 fetuses with prenatal ultrasound diagnosed CPC were enrolled and divided into abnormal group (n=8) and normal group (n=104) according to the results of chromosome examination. The maternal ages, diagnosis time, CPC characteristics and other structural abnormalities were compared between groups, and logistic regression analysis was performed using retrograde method. The independent factors of chromosomal abnormalities in CPC fetuses were screened, and a regression model was constructed to evaluate the predictive value of the above factors. Then the birth outcomes were recorded. Results Totally 8 fetuses had chromosomal abnormalities, including 5 fetuses with trisomy 18, 1 with trisomy 21, 1 with microdeletion and microduplication and 1 fetus with ectopic chromosome. There were significant differences of the number of cysts and whether combined with other abnormalities between groups (both P<0.05). The number of cysts and whether combined with other abnormalities were included in the regression equation, and the latter was an independent factor in predicting fetal chromosomal abnormalities (OR=19.865, P<0.05). The area under the curve of this model for predicting chromosomal abnormalities in fetuses with CPC was 0.892, with sensitivity of 87.50% and specificity of 78.85%, respectively. Among 8 fetuses abnormal group, 6 were induced, 1 was born preterm,while 1 fetus was born naturally at term without obvious abnormalities in growth and development. Among 104 fetuses in normal group, 5 were induced and 99 born live, and CPC were noticed until prenatal ultrasound examination in 6 fetuses but disappeared in 93 fetuses. Among 99 newborns, 17 were lost to follow-up after birth (including 5 with CPC before birth), 80 were found without obvious abnormalities in growth and development, 1 case was diagnosed with autism and 1 case was noticed with CPC. Conclusion The number of CPC and whether combined with other abnormalities could be used to predict fetal chromosomal abnormalities.