CAJ | 학술논문

目的：探讨染色体核型分析在先天性心脏病的临床诊断意义。方法：选择2009年2月至2013年1月五邑中医院收治的100例先天性心脏病患儿作为观察组，同期100例健康儿童作为对照组，采集脐血进行染色体核型分析。结果：观察组患儿染色体分析检出异常95例(阳性检出率95.0％)，其中Down综合征33例、平衡易位30例、Turner综合征10例、其他2例。而对照组染色体分析检出异常5例(阳性检出率5.0％)，其中Down综合征2例、Rett综合征1例、18 三体综合征1例。结论：染色体分析对先天性心脏病的临床诊断具有较好价值，但仍需与其他诊断方法相结合，以提高检出率。
목적：탐토염색체핵형분석재선천성심장병적림상진단의의。방법：선택2009년2월지2013년1월오읍중의원수치적100례선천성심장병환인작위관찰조，동기100례건강인동작위대조조，채집제혈진행염색체핵형분석。결과：관찰조환인염색체분석검출이상95례(양성검출솔95.0％)，기중Down종합정33례、평형역위30례、Turner종합정10례、기타2례。이대조조염색체분석검출이상5례(양성검출솔5.0％)，기중Down종합정2례、Rett종합정1례、18 삼체종합정1례。결론：염색체분석대선천성심장병적림상진단구유교호개치，단잉수여기타진단방법상결합，이제고검출솔。
Objective:To determine the clinical significance of chromosomal analyses for the diagnosis of congenital heart disease ( CHD ) . Methods: A total of 100 patients with CHD ( observation group ) and 100 healthy children (control group) were recruited between February 2009 and January 2009 in Wuyi Hospital of Traditional Chinese Medicine for sampling of umbilical cord blood to conduct chromosomal analyses. Results:Of the 95 cases detected as having abnormal chromosomes in the observation group, 33 had Down? syndrome, 30 balanced translocation, 10 Turner syndrome and 2 other diseases. In control group, of the 5 abnormal cases, 2 had Down syndrome, 1 Rett syndrome and one 18 trisomy syndrome. Conclusion:Chromosomal analyses possess a high diagnostic value for CHD and merits combination with other diagnostic tools to improve the detection rate.