Application of multiplex ligation-dependent probe amplification for rapid diagnosis of chromosomes aneuploid abnormalities / 中华实用儿科临床杂志

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.