OBJECTIVETo determine the applicability of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies in prenatal diagnosis.

METHODSA total of 561 prenatal samples were analyzed in parallel by MLPA and traditional karyotyping. Another 20 clinical samples with known common chromosome abnormalities were also determined by MLPA to evaluate the accuracy and reliability of MLPA. The results obtained from MLPA were compared with that from traditional karyotyping.

RESULTSThe results were available within 48 h. A total of 38 aneuploidies were identified by MLPA, including 20 cases of trisomy 21, 10 cases of trisomy 18, 1 case of trisomy 13, 4 cases of Turner syndrome, 1 case of Klinefelter syndrome, 1 case of 47, XYY trisomy and 1 case of 48,XYY, +18. MLPA was able to detect all the expected aneuploidies with 100% accuracy. The results obtained from MLPA agreed with traditional karyotyping. Among 561 prenatal samples, the results of 550 samples were concordant with those of karyotyping, and the coincidence rate of MLPA was 98.04%.

CONCLUSIONMLPA is a rapid, simple and reliable method for detection of the most common chromosome aneuploidies in prenatal diagnosis. MLPA is a valuable tool in prenatal clinical practice.