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目的通过对不同类型的胎儿心脏结构畸形与染色体异常的关系性分析,指导遗传咨询和临床处理。方法收集2010年5月至2015年5月,因胎儿心脏畸形为产前诊断指征来我院行介入性产前诊断穿刺术及染色体核型分析并培养成功的病例共161例。并将病例分成单一心脏畸形、复合型心脏畸形和心脏畸形合并心外畸形3小组,分别统计染色体异常的检出率、检出类型。结果 161例胎儿心脏畸形病例的染色体异常发生率为23.6%。单一心脏畸形的染色体异常检出率为6.9%,复合型心脏畸形的染色体异常检出率为27.6%。心脏畸形合并心外畸形的染色体异常检出率为40%。结论由此可见,先天性心脏病与染色体异常关系密切。特别是心脏畸形合并心外畸形时,该染色体异常发生率更高。
Objective To analyze the relationship between structural abnormalities and chromosomal abnormalities in different types of fetal heart to guide genetic counseling and clinical treatment. Methods From May 2010 to May 2015, a total of 161 cases of successful prenatal diagnosis and biopsy and chromosome karyotype analysis were enrolled in our hospital due to prenatal diagnosis of fetal cardiac malformation. The cases were divided into single cardiac malformations, complex cardiac malformations and cardiac malformations combined with extra-cardiac malformations. The detection rate and detection type of chromosomal abnormalities were respectively counted. Results The incidence of chromosomal abnormality in 161 cases of fetal cardiac malformations was 23.6%. The detection rate of chromosomal abnormalities was 6.9% in single cardiac malformations and 27.6% in complex cardiac malformations. Cardiac malformations associated with extra-cardiac abnormalities detected chromosomal abnormalities was 40%. Conclusion Thus, congenital heart disease and chromosomal abnormalities are closely related. In particular, cardiac malformations associated with extra-cardiac malformations, the incidence of chromosomal abnormalities higher.