(中山大学附属第一医院超声科,),广东,广州,510080
网络首发:2017-03-16,
纸质出版:2017
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林美芳, 谢红宁, 郑菊, 等. 足内翻产前超声特征及与染色体异常相关性的分析[J]. 中山大学学报(医学科学版), 2017,38(2).
LIN Mei-fang, XIE Hong-ning, ZHENG Ju, et al. Prenatal Sonographic Characteristics of Clubfoot and Relationship with Chromosomal Abnormalities[J]. Journal of Sun Yat-sen University (Medical Sciences), 2017, 38(2).
:【目的】总结足内翻胎儿产前超声特征及其合并染色体异常情况,分析决定预后的独立因素以提供产前咨询 的资料。【方法】收集2010年1月1日至2015年10月30产前超声诊断为足内翻并经产后或引产后证实的病例89例,其中不 合并畸形16(18.0%)例,合并畸形73(82.0%)例。总结其合并其他畸形的情况,精确概率法分析与染色体核型异常的关系, Logistic回归分析影响预后的独立因素。【结果】合并畸形最多为骨骼系统的其他畸形,共35例(47.9%),其次神经系统畸形 30例(41.1%)。60例(不合并畸形组11例,合并畸形组49例)行染色体检查,合并畸形组染色体异常概率(17/49,34.7%)高 于不合并畸形组(0/11,0%)(P = 0.03)。染色体异常以18三体多见(8/17,47.1%)。无合并畸形组生存率(8/16,50.0%)与 合并畸形组足内翻生存率(1/73,1.3%)差异有统计学意义(P = 0.03)。有、无合并畸形是影响临床结局独立因素(P = 0.01),合并其他畸形足内翻预后不良[OR = 11.9(95% CI:1.8~80.1)]。【结论】足内翻胎儿合并的畸形以骨骼系统其他畸形 最常见;有、无合并畸形是影响预后的独立因素。足内翻合并其他畸形时染色体异常率高于不合并畸形,其中染色体异常 以18三体多见;不合并其他畸形时,染色体风险较低,可不建议行染色体检查。
Abstract:【Objective】To evaluate the incidence of chromosomal abnormalities and associated abnormalities in prenatally diag? nosed clubfoot,and to determine the prognostic factors as well.【Methods】A total of 89 fetuses with clubfoot diagnosed during Janu? ary 2010 to October 2015 in prenatal ultrasound scan and confirmed postnatally or by autopsy,were selected,within which 16 (18.0%)cases were without other abnormalities and 73(82.0%)cases were with other abnormalities. The associated abnormalities were identified,the correlation with chromosomal abnormalities were analyzed with Fisher analysis and the factors affecting the outcomes were determined with Logistic regression analysis.【Results】Among associated abnormalities,the skeletal abnormalities besides the clubfoot were the most frequently associated anomalies(35,47.9%),and the central nervous abnormalities followed secondly(30,41.1%). A chromosomal abnormality,with trisomy 18 being the most frequently detected,was identified in 34%(17/ 49)of the clubfoot fetuses with other anomalies,whereas none of chromosomal abnormality was identified in 11 fetuses without other anomalies,a significant different rate of aberrant chromosome noted(P < 0.001). The survival rate of clubfoot fetuses without other anomalies was higher than that of clubfoot fetuses with other anomalies(50.0% vs 1.3%,P = 0.03). The conditions of with or without associated anomalies were the independent prognostic factors(P = 0.01),the clubfoot fetuses associated with other anomalies had poor outcomes[OR = 11.9(95% CI:1.8,80.1)].【Conclusion】Skeletal abnormalities besides the clubfoot were the most frequently associated anomalies. The condition of with or without associated anomalies is the independent prognostic index for fetuses withclubfoot. Aneuploidy were more commonly in clubfoot fetuses with associated abnormalities than in those without other abnormalities. No indication for karyotyping suggests for the clubfoot fetuses without other abnormalities due to the low incidence of associate chromo? somal anomalies.
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