中孕期染色体非整倍体异常胎儿的超声表现分析

Analysis on the ultrasonic manifestations of fetuses with chromosomal aneuploidy abnormality in second trimester of pregnancy

目的:分析胎儿染色体异常中孕期超声表现,为胎儿染色体的异常诊断提供线索。方法:回顾性分析49例胎儿染色体异常的中孕期超声表现。结果:49例胎儿非整倍体患者中42例有异常超声表现,30例为超声形态结构异常,18例发现超声软指标,其中6例合并结构异常,7例超声未见明显异常。结论:大部分非整倍体胎儿中孕期可有异常的超声表现,包括形态学和软指标上的异常。提示当胎儿中孕期有异常的超声表现时,应考虑染色体异常的可能性,并提供相应的遗传学咨询。

Objective：To analyze the ultrasonic manifestations of fetuses with chromosomal abnormality in second trimester of pregnancy,provide some clues for the diagnosis of fetal chromosomal abnormality. Methods：The ultrasonic manifestations of 49 fetuses with chromosomal abnormality in second trimester of pregnancy were analyzed retrospectively. Results：Among 49 fetuses with chromosomal aneuploidy abnormality,72 fetuses were found with abnormal ultrasonic manifestations,30 fetuses were found with abnormal morphology and structure,18 fetuses were found with ultrasonic soft indexes,6 fetuses were combined with abnormal structure,7 fetuses were not found with apparent abnormality. Conclusion：Most of the fetuses with chromosomal aneuploidy abnormality in second trimester of pregnancy have abnormal ultrasonic manifestations,including morphological abnormality and abnormal soft indexes,the phenomenon indicates that the possibility of chromosomal abnormality should be considered and corresponding genetic consultation should be provided when the fetuses are found with abnormal ultrasonic manifestations