130例胎儿侧脑室扩张与染色体异常关联性分析

Correlation between Fetal cerebral ventriculomegaly and Chromosome abnormality:a retrospective study of 130 cases

目的探讨胎儿侧脑室扩张在染色体异常产前诊断的价值,为临床咨询提供指导。方法对入选的130例超声诊断为侧脑室扩张且行产前介入性诊断的胎儿,回顾其染色体核型分析及aCGH结果。结果 130例胎儿的染色体核型中,121例(93.1%)核型正常,9例(6.9%)核型异常;aCGH结果中,有11例(8.5%)结果异常。分组:Ⅰ孤立性侧脑室扩张组(72例);Ⅱ合并超声软指标组(27例);Ⅲ合并神经系统畸形组(15例);Ⅳ合并其他异常组(16例)。4组染色体异常率分别为2/72(2.8%)、6/27(22.2%)、0/15(0%)、1/16(6.25%)。4组差异有统计学意义(P=0.011);aCGH异常的比例分别为2/72(2.8%)、7/27(25.9%)、0/15(0%)、2/16(12.5%),4组差异有统计学意义(P=0.002);在侧脑室双侧对称扩张组,双侧不对称组和单侧扩张组中,各组染色体异常率无差异(P=0.866),各组aCGH异常率无差异(P=0.488)。侧脑室轻度扩张组和重度扩张组,染色体异常率(P=0.487)及aCGH异常率(P=0.561)无差异。男性胎儿组和女性胎儿组,染色体异常率(P=1.00)及aCGH异常率(P=0.838)无差异。结论当产前发现胎儿侧脑室扩张,无论其单双侧、是否对称、胎儿性别、侧脑室扩张程度,尤其是合并其他超声软指标时,应建议其产前诊断,行核型分析及aCGH检查。

Objective To determine the correlation between fetal cerebral ventriculomegaly and chromosome abnormality. Method A retrospective study of the karyotypes and aCGH outcomes of selected 130 cases with fetal cerebral ventrieulomegaly by invasive prenatal procedures. Results Among the 130 fetal karyotypes, 93.1%（121/130） were normal, 6.9% （9/130） chromosomal abnormality. As to the results of 130 aCGH, 8. 5%（11/130） were CNVs. All the cases were divided into four groups, Group I ： 72 cases with isolstedventrieulomegaly; Group 11：27cases in association with soft markers; Group Ill ..15 ca- ses complicated with CNS anomalies; Group IV ：16 cases accompanied with other anomalies. Chromosomal abnormalities of the 4 group were 2/72 fetuses （2.8%）,6/27 fetuses （22.2%）,0/15 fetuses （0%）,1/16 fetuses （6.25 v）, respectively. As to the submicroscopic chromosomal abnormalities of the 4 group were 2/72 fetuses （2.8%）, 7/27 fetuses （25. 9%）,0/15 fetuses （0%）,2/16 fetuses （12. 5%） respectively. Statistical significance were reached for the difference in Chromosomal abnormalities frequency （P = 0. 011） and submicroscopic chromosomal abnormalities （P= 0. 002） among the groups. No statistically significant differences in chromosomal abnormality or submicroscopic chromosomal abnormalities were identified betwee.n symmetric, asymmetric and unilateral VM groups, mild and severe VM groups and gender association groups. Conclusions Karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies, particularly when soft markers are detected.