产前超声检查在诊断染色体非整倍体异常胎儿中的价值

目的 探讨产前超声检查在非整倍体异常胎儿诊断中的价值.方法 对2009年9月至2011年12月在我院经羊水细胞染色体核型分析诊断为非整倍体异常的24例胎儿产前超声异常声像图特征进行总结分析.结果 24例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常20例(83.3%,20/24),包括21-三体9例(9/13)、18-三体3例(3/3)、13-三体3例(3/3)、45,X 5例(5/5).其中单发畸形4例(20%,4/20),多发畸形13例(65%,13/20),仅表现为超声软标志异常3例(15%,3/20).18-三体、13-三体及45,X胎儿均有超声可检出的明显结构畸形或异常,21-三体胎儿3例,仅表现为超声软标志异常.24例非整倍体异常胎儿中以心脏畸形检出例数居多(41.7%,10/24),而颈部淋巴水囊瘤是45,X胎儿一个极其重要的超声标志.结论 非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱,超声作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要临床意义.

Application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities

Objective To investigate the clinical application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities.Methods Ultrasound imaging features in 24 aneuploidy abnormal fetuses which were diagnosed by amniocentesis in our hospital from September 2009 to December 2011 were analyzed retrospectively.Results Twenty-four cases of aneuploidy abnormalities dectected by amniocentesis were examined by prenatal ultrasound.Of these cases,twenty were found abnormalities,including 9 with trisomy 21,3 with trisomy 18,3 with trisomy 13 and 5 with 45,X monomer.Prenatal ultrasound showed single malformation in 4 cases,multi-malformation in 13 cases and separate ultrasonographic soft markers in 3 cases.Fetuses with trisomy 18,trisomy 13 and 45,X monomer were all had obvious structural abnormalities detected by ultrasound,otherwise,3 cases of trisomy 21 had only ultrasonographic soft markers.In these aneuploidy abnormal fetuses,the highest incidence of sonogram abnormalities were cardiac defects(10/24,41.7%).Cystic hygroma of the neck was considered as the extremely important ultrasonographic marker in 45,X monomer.Conclusions The fetus with aneuploidy abnormalities almost have abnormal images of ultrasound,and some have characteristic images.As a non-invasive technique,ultrasonography has important clinical significance in diagnosing aneuploidy abnormalities.