Application of multiplex ligation-dependent probe amplification for rapid diagnosis of chromosomes aneuploid abnormalities

VernacularTitle:多重探针连接依赖式扩增技术快速诊断常染色体非整倍体疾病的价值
Author: Shi-Yuan ZHOU ¹ ; Li-Na WANG ; Hua ZHANG ; Ji-Ping ZHOU ; Jian-Sheng XIE
Author Information

1. 河南省人口和计划生育科学技术研究院优生遗传室
Keywords: Prenatal diagnosis; Multiplex ligation-dependent probe amplification; Chromosome aneuploid
From: Chinese Journal of Applied Clinical Pediatrics 2013;28(20):1558-1560
CountryChina
Language:Chinese
Abstract: Objective To explore the application value of multiplex ligation-dependent probe amplification (MLPA) for diagnosing chromosome aneuploid abnormality diseases.Methods Seven hundred and thirty cases of prenatal samples were tested with MLPA detection and by G-band karyotype analysis.If the findings from the samples were different by two methods,they were then detected by fluorescence in situ hybridization (FISH).The sensitivity,specificity and positive predictive value of MLPA were calculated.Results There were 709 normal euploidies,12 cases of Down syndrome,4 cases of Eswards syndrome,1 case of Patau syndrome,1 case of Turner syndrome,1 case of 47,XXX,1 case of 47,XYY,1 case of 46,XY/47,XY + 21.The sensitivity,specificity and positive predictive value of MLPA were respectively 95％,100％ and 100％,respectively.Conclusion MLPA is a rapid and efficient method for analyzing aneuploids and has the good value of clinical applications.