【摘要】 目的探讨马蹄内翻足(TE)合并其他畸形的产前超声诊断及其与染色体异常的关系。方法 104例产前超声诊断为TE并经产后或引产后证实的胎儿,分析其足内翻合并畸形的超声图像、染色体核型分析及染色体微阵列分析(CMA)的结果。结果单侧、双侧TE组分别为44、60例,两组染色体核型分析及CMA异常检出率均无显著差异(P>0.05)。单纯TE组68例,复杂TE组(TE合并其他畸形)36例,两组染色体核型异常的检出率分别为2.9%、11.1%,无显著差异(P>0.05);复杂TE组CMA异常检出率27.8%明显高于单纯TE组7.3%(P<0.05)。TE的CMA异常检出率14.4%明显高于染色体核型分析的异常检出率5.8%(P<0.05)。结论胎儿TE合并其他畸形,染色体异常的概率增高,需行CMA检查。单纯TE组胎儿超声随访观察仍提示TE,建议CMA检查。更多还原

【Abstract】 Objective To explore the prenatal ultrasound diagnosis of Talipes Equinovarus with other malformation and its relationship with chromosomal abnormalities. Methods 104 fetuses with TE diagnosed by prenatal ultrasound and confirmed after labor or induced labor were analyzed by ultrasound images, karyotype analysis and chromosome microarray analysis. Results The unilateral and bilateral TE fetuses were 44 and 60, respectively,there was no significant difference in the abnormal detection rate of karyotype and CMA between the two group(P>0.05).68 cases were isolated,36 cases were complex(complicated with other structural malformations).The abnormal detection rates of karyotype in the two groups were 2.9% and 11.1%, respectively(P>0.05). The abnormal detection rate of CMA in complex TE group was 27.8%, which was higher than that in isolated group 7.3%(P<0.05). The abnormal detection rate of CMA(14.4%) of TE was higher than that of karyotype analysis(5.8%)(P<0.05). Conclusions Fetal with TE combined with other malformations has a high probability of chromosomal abnormalities, which requires CMA.Ultrasound follow-up observation of the isolate TE group still suggests TE, and CMA is recommended.更多还原