Study on application use of multiplex ligation-dependent probe amplification in rapid prenatal diagnosis of trisomy 21

Objective To evaluate the effectiveness of existing multiplex ligation-dependent probe amplification (MLPA) as a method of rapid prenatal diagnosis for trisomy 21.Methods 181 cases of amniotic fluid samples were detected for chromosome aneuploidies by MLPA.The experimental results were compared with those of G-banding karyotype analysis.Results 181 cases of samples were detected by MLPA,among which 177 cases of normal samples and 4 cases of chromosome aneuploidies were found,including 3 cases of trisomy 21,1 case of X-monomer.This result was consistent with the result of G-banding karyotype analysis.Detection results of MLPA achieved 99.4％ in 24 hours.Conclusion As a rapid prenatal diagnosis technology for trisomy 21,MLPA has good specificity and application value. Key words: Multiplex ligation-dependent probe amplification (MLPA);  Rapid prenatal diagnosis; Trisomy 21