221例超声结构畸形和软指标阳性胎儿的染色体分析

The relationship between fetal structural malformations and/or soft markers and chromosomal abnormalities in 221 fetuses

目的:分析胎儿结构畸形和阳性软指标的种类及数量与染色体异常的相关性,探讨超声检查对染色体异常的检出价值。方法:收集3年内超声发现胎儿结构畸形和软指标阳性而行染色体检查的病例221例,统计分析不同类型结构畸形和软指标中异常核型的检出结果。结果:胎儿结构畸形中染色体异常的发生率为30.39%(31/102),其中单发结构畸形、单发结构畸形伴单个软指标阳性及多发结构畸形中染色体异常的发生率分别为17.65%(9/51)、26.32%(5/19)和53.13%(17/32)。软指标阳性病例中染色体异常的发生率为5.04%(6/119),其中单个软指标阳性及多个软指标阳性的病例中染色体异常的发生率分别为3.33%(3/90)、10.34%(3/29)。单发结构畸形伴单个软指标阳性的病例中染色体异常的发生率与单发结构畸形相比,差异无统计学意义(χ2=0.65,P>0.05);多发畸形的胎儿染色体异常的发生率显著高于单发结构畸形(χ2=11.50,P<0.05);多发畸形的胎儿染色体异常的发生率与单发结构畸形伴单个软指标阳性的病例相比,差异无统计学意义(χ2=3.49,P>0.05)。当不考虑是否伴有软指标时,多发畸形的胎儿染色体异常的发生率显著高于单发结构畸形,差异有统计学意义(χ2=11.39,P<0.05)。多个软指标阳性的病例胎儿染色体异常的发生率与单个软指标阳性相比,差异无统计学意义(χ2=1.03,P>0.05)。结论:胎儿结构畸形与非整倍体染色体异常的关系密切,多发结构畸形时染色体异常的风险显著增加。多个软指标阳性的病例与单个软指标阳性相比,染色体异常的发生率差异无统计学意义。

Objective： To investigate the diagnostic value of ultrasound in detecting chromosomal abnormalities of the fetuses. Methods： The retrospective analysis included the data of 221 fetuses with structural malformations and/or soft markers from June, 2004 to July, 2007. The karyotype of all cases was confirmed by amniocentesis or cordocentesis. Results： There were 102 cases with structural abnormalities and 119 cases with soft markers. The rate of chromosomal abnormalities was 30. 39% in the cases with structural malformations, 5. 04% in the cases with soft markers, respectively. The rate of chromosomal abnormalities was 17. 65% （9/51） in the cases with single structural abnormality, 26. 32% （5/19） in the cases with single structural abnormality and single soft marker, and 53. 13% （17/ 32） in the cases with multiple abnormalities respectively. The rate of chromosomal abnormalities was 3. 33% （3/90） in the cases with single soft marker, 10. 34% （3/29） in the cases with multiple soft markers respectively. Compared to the cases with single structural malformarion, the incidence rate of chromosomal abnormalities in the cases with multiple structural malformations was significantly higher （X2 = 11. 50, P 〈 0. 05）. . There was no significant difference between the cases with single structural malformation and single soft marker and the cases with multiple structural malformations （X2 =3. 49, P 〈0. 05）.. However, when soft markers were ignored, the incidence rate of chromosomal abnormalities in the cases with multiple structural malformations was significantly higher than that of the cases with single structural abnormality （X2 = 11. 39, P 〈 0. 05）. There was no difference between the cases with single soft marker and the cases with multiple soft markers （X2 = 1. 03, P 〈 0. 05） . Conclusion： Fetal structural abnormalities are closely associated with chromosomal abnormalities. The risk of chromosomal abnormalities would increase when the fetuses with multiple structural malformations.