孕早期产前绒毛染色体结构异常的诊断分析

发布时间：2018-11-07 09:46

【摘要】：目的:通过对产前绒毛染色体结构异常的妊娠指征、发病率及妊娠结局进行分析,为孕中期孕妇的妊娠选择提供科学依据。方法:选取2011年2月至2015年3月在本院进行产前早期绒毛染色体检查的1 562例标本中的46例结构异常病例进行回顾分析。结果 :1 562例标本中检出46(2.94%)例结构异常。46例病例中12例选择终止妊娠,其中不平衡易位6例,复杂重排2例,其他结构异常2例,1例涉及X与常染色体的新发突变易位,1例遗传型易位伴随Turner综合征。结论:孕早期产前诊断中的绒毛染色体结构异常主要为倒位、相互易位、不平衡易位及复杂重排等。不同结构异常的临床特征与妊娠结局明显不同,大部分相互易位及倒位结构异常可以选择继续妊娠。相反,不平衡易位及复杂重排由于涉及基因片段的增加或丢失,大部分需选择终止妊娠。
[Abstract]:Objective: to provide a scientific basis for the selection of pregnant women in the second trimester of pregnancy by analyzing the pregnancy indication, incidence and outcome of antenatal villus chromosome structure abnormality. Methods: from February 2011 to March 2015, 46 cases of abnormal structure were selected from 1 562 samples of early antenatal villus chromosome examination in our hospital. Results: 46 (2.94%) of 1 562 cases were found to have structural abnormalities, 12 of 46 cases were selected to terminate pregnancy, including 6 cases of unbalanced translocation, 2 cases of complex rearrangement and 2 cases of other structural abnormalities. One case involved X and autosomal translocation, and one case of hereditary translocation associated with Turner syndrome. Conclusion: the main chromosomal abnormalities in early prenatal diagnosis of pregnancy are inversion, mutual translocation, unbalanced translocation and complex rearrangement. The clinical characteristics of different structural abnormalities were significantly different from the pregnancy outcome, and most of the reciprocal translocation and inverted structural abnormalities could be selected to continue pregnancy. On the contrary, unbalanced translocation and complex rearrangement involve increased or lost gene fragments, most of which require termination of pregnancy.
【作者单位】：广东省深圳市龙岗区妇幼保健院;
【基金】：深圳市龙岗区重点科技计划项目(编号:YLWS20140610155624914)
【分类号】：R714.5

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