染色体数目异常胎儿的早、中孕期超声特征分析

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.

Ultrasonographic characteristics of fetus with numerical abnormalities of chromosomes in the first and second trimester

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.