染色体数目异常胎儿的早、中孕期超声特征分析

摘要

目的 总结染色体数目异常胎儿的早、中孕期超声特征.方法 选取确诊为染色体数目异常的早中孕期胎儿53例,包括21-三体31例、18-三体12例、13-三体3例、45,XO 3例、47,XXX 1例、48,XXYY 1例、47,XXY 2例,对其超声检查结果进行回顾性分析.结果 共43例(81.1%)胎儿存在异常超声表现.单纯结构畸形8例(15.1%,8/53),包括18-三体3例、13-三体2例、45,XO 1例、48,XXYY 1例、47,XXY 1例;结构畸形合并超声软指标阳性8例(15.1%,8/53),包括21-三体2例、18-三体5例、13-三体1例;单独超声软指标阳性27例(50.9%,27/53),包括21-三体22例、18-三体2例、45,XO 2例、47,XXX 1例;超声未见异常10例(18.9%,10/53),包括21-三体7例、18-三体2例、47,XXY 1例.结论 常见染色体畸形中,大部分21-三体胎儿产前超声未表现出明显结构异常或仅见软指标异常,而18-三体、13-三体胎儿及45,XO胎儿通常因合并严重结构畸形而被产前超声检出.%Objective To summarize the ultrasonographic characteristics of fetus with numerical abnormalities of chromosomes in the first and second trimester .Methods Fifty-three fetuses in the first and second trimester definitely diagnosed as numerical abnormalities of chromosomes were enrolled ,including 31 with 21-trisomy,12 with 18-trisomy,three with 13-trisomy,three with 45,XO,one with 47,XXX, one with 48,XXYY and two with 47,XXY.The ultrasonographic results of the fetuses were analyzed retrospectively .Results Abnormal sonographic manifestations were found in 43(81.1%) fetuses.Simple structural abnormalities were observed in 8 cases(15.1%,8/53),including three with 18-trisomy,two with 13-trisomy,one with 45,XO,one with 48,XXYY and one with 47,XXY.Structural malformation complicated with positive ultrasonographic soft markers were observed in 8 cases(15.1%,8/53),including two with 21-trisomy,five with 18-trisomy and one with 13-trisomy.Simple positive ultrasonographic soft markers were observed in 27 cases(50.9%,27/53),including 22 with 21-trisomy, two with 18-trisomy,two with 45,XO and one with 47,XXX.No abnormal ultrasonographic findings were found in 10 cases(18.9%,10/53), including seven with 21-trisomy,two with 18-trisomy and one with 47,XXY.Conclusion In the common chromosomal abnormalities ,no obvious structural abnormalities or only abnormal soft markers are manifested in most fetuses with 21-trisomy by prenatal ultrasound ,but the fetuses with 18-trisomy,13-trisomy or 45,XO can be detected by prenatal ultrasound usually because of complication with severe structural abnormalities.