胎儿超声软标记或结构畸形与染色体异常的关系探讨

发布时间：2019-03-21 10:49

【摘要】：目的:分析胎儿超声软标记或结构畸形与染色体异常的关系。方法:回顾性分析2009年11月至2013年10月于孕18~28周超声检查发现有超声软标记或结构畸形并行染色体核型分析的胎儿3749例的临床资料,分析单个或多个不同超声软标记或结构畸形的染色体异常的检出率及检出类型。结果:1染色体核型分析示:检出染色体异常胎儿49例(1.31%,49/3749)。其中21-三体20例,18-三体7例,13-三体6例,45,XO 3例,47,XXY 3例,47,XYY2例,染色体移位、缺失6例,衍生染色体2例。2单个超声软标记的染色体异常发生率0.22%(5/2245),超声软标记有颈项透明层增厚、长骨短小等;多个超声软标记的染色体异常发生率0.86%(12/1401),超声软标记有颈项透明层增厚伴持续性脉络膜囊肿、鼻骨短小等;单发畸形的染色体异常发生率18.37%(9/49);多发畸形的染色体异常发生率42.59%(23/54)。结论:超声检查胎儿结构畸形的染色体异常发生率较高,尤其是多发畸形。多个超声软标记时,可根据其类型,建议选择性行染色体核型分析以明确诊断。
[Abstract]:Objective: To analyze the relationship between fetal ultrasound soft mark or structural abnormality and chromosome abnormality. Methods: A retrospective analysis of the clinical data of 3749 fetuses from November 2009 to October 2013 at 18 ~ 28 weeks of pregnancy were retrospectively analyzed. The detection rate and the detection type of the chromosome abnormality of single or multiple different ultrasonic soft marks or structural abnormalities are analyzed. Results: The karyotype of chromosome 1 showed that 49 cases (1.31%,49/3749) of the abnormal fetus in the chromosome were detected. Of these,21-trisomy 20 cases,18-trisomy 7 cases,13-trisomy 6 cases,45, XO 3 cases,47, XXY 3 cases,47, XY2 cases, chromosome shift, deletion 6 cases, and derived chromosome 2 cases. The incidence of chromosome abnormality of single ultrasonic soft marker was 0.22% (5/2245). The incidence of chromosomal abnormalities of multiple ultrasound soft markers was 0.86% (12/1401), and the abnormal rate of abnormal chromosome was 18.37% (9/49). The incidence of chromosomal abnormalities in multiple malformations was 42.59% (23/54). Conclusion: The incidence of chromosomal abnormalities in fetal structural abnormalities is high, especially in multiple malformations. When a plurality of ultrasonic soft markers are used, the Karyotype analysis of the selective line can be suggested according to their type to make a clear diagnosis.
【作者单位】：成都市妇女儿童中心医院;
【分类号】：R714.5;R445.1

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