胎儿侧脑室增宽与染色体异常的相关性分析

Correlation analysis of fetal ventriculomegaly and chromosomal abnormality

目的分析胎儿侧脑室增宽的遗传检测结果,探讨两者的相关性。方法对179例侧脑室增宽的胎儿进行侵入性产前诊断,回顾性分析所有病例的染色体微阵列结果。结果侧脑室增宽胎儿染色体异常总的发生率为6.15%(11/179)。侧脑室重度增宽的染色体异常发生率显著高于轻度侧脑室增宽(P=0.008),侧脑室中度增宽染色体异常的发生率高于轻度侧脑室增宽,P接近0.05。非孤立性侧脑室增宽的染色体异常发生率比孤立性更高。染色体异常与单双侧、胎儿性别和母亲年龄无关。结论胎儿侧脑室中度及重度增宽染色体异常发生率更高,应积极进行产前诊断明确病因。

Objective To analyze the genetic test results of fetal ventriculomegaly and their correlation.Methods Invasive prenatal diagnosis was performed in 179 cases with fetal ventriculomegaly.Chromosomal microarray results were retrospectively analyzed in all cases.Results The positive rate of chromosome abnormalities was 6.15%(11/179).The incidence of chromosomal abnormalities in severe ventriculomegaly was significantly higher than that in mild ventriculomegaly(P=0.008).The incidence of chromosomal abnormality of moderate ventriculomegaly was higher than mild ventriculomegaly,P value was close to 0.05.Non-isolated ventriculomegaly had a higher incidence of chromosomal abnormalities than isolated ventriculomegaly.Chromosome abnormalities were not associated with unilateral or bilateral,fetal sex or maternal age.Conclusion The incidence of chromosomal abnormalities with moderate and severe fetal ventriculomegaly is higher,so prenatal diagnosis should be carried out actively to confirm the cause.