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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 ultrasound manifestations of pregnancy during fetal chromosomal abnormalities and provide clues for the abnormal diagnosis of fetal chromosomes. Methods: A retrospective analysis of 49 cases of fetal chromosomal abnormalities in the second trimester ultrasound. Results: In 49 cases of aneuploidy, 42 cases had abnormal ultrasonography, 30 cases had abnormal ultrastructure, 18 cases found soft ultrasonic indexes, including 6 cases with abnormal structure and 7 cases without obvious abnormalities. Conclusion: Most aneuploid fetuses may have abnormal ultrasound manifestations during pregnancy, including abnormalities in morphology and soft indices. Tip When the fetus during pregnancy abnormal ultrasound performance, should consider the possibility of chromosomal abnormalities, and provide the appropriate genetic counseling.