【摘要】 目的对产检超声异常,而染色体核型分析显示正常患者,结合CMA检测技术,提高临床诊断的准确率。方法对1例产检超声异常患者,采集脐带血样本,应用染色体核型分析和CMA技术对脐血进行检测。结果染色体核型分析结果正常,而CMA检测出4p16.3p16.1位置发生8.65 Mb缺失,8p23.3p23.1位置发生6.76 Mb重复。结论对核型分析正常样本,再进行CMA检测,将有利于提高染色体异常检出率,对预后及评估再生育风险及产前诊断具有重要意义。更多还原

【Abstract】 Objective For the patients having abnormal results on ultrasonic testing with a normal result on karyotype analysis or a result of balanced chromosomal translocation,the application of technology of chromosome microarray analysis(CMA) could help improve the diagnostic accuracy. Methods There collected the umbilical cord blood of a patient with abnormal ultrasonic testing result and used a combined method based on karyotype analysis and CMA technology to test the blood sample. Results The result of karyotype analysis was normal. However,an 8. 65 Mb-deletion in 4 p16. 3 p16. 1 and a 6. 76 Mb-repetition in8 p23. 3 p23. 1 had been detected by CMA technology. Conclusion For samples presenting a normal result on karyotype analysis or balanced chromosomal translocation,a further testing by CMA technology could improve the detection rate of chromosomal abnormality,which was of great importance in prognosis,re-birth risk evaluation and prenatal diagnosis.更多还原