Research of applicated multiplex ligation dependent probe amplification on analysis of chromosomal abnormalities of spontaneous abortion

Objective To evaluate the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique in comparison with the cytogenetical karyotyping in early spontaneous abortion.Methods 195 spontaneous abortive chorionic villi samples were collected and 183 samples except for 12cases contaminated with bacteria were carried out cell culture and routine karyotype analysis.MLPA using kits P036 and P070 was performed on all villi DNA samples including 12 contaminated samples.Results Among 177 successfully cultured and karyotyped samples,there were 160 cases (90.4％) of identical karyotype results compared with MLPA,including 65 cases of normal karyotype,all of 78 cases of trisomy,all of 14 cases of monosomy (except 1 case of mosaics) and 3 cases of unbalanced translocation.15 cases of abnormal karyotype including 10 cases of euploidy,2 cases of balanced translocation,2 cases of inversion of chromosome 9 and 1 case of mosaics could not be detected by MLPA.1 case of dup6 p ;dup6q and 1 case of dup8p ; del 11q were identified by MLPA with normal G-band karyotyping analysis.Conclusion The MLPA technique can be used to analyze aneuploids as well as a simple,rapid and effective method.The MLPA technology,as fast and effective method with the value of the actual clinical application,can be used to analyze aneuploid abnormalities consistent with classical karyotype as well as it can quickly detect the unbalanced structure of a chromosome abnormalities and the microdeletions and micro-repeats which can not be detected by karyotype analysis. Key words: MLPA; Karyotype analysis; Choronic Villus; spontaneous abortion