title: [Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies in prenatal diagnosis].
abstract: OBJECTIVE
  To determine the applicability of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies in prenatal diagnosis.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  The 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%.
  
  
  CONCLUSIONS
  MLPA 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.
authors: Center of Prenatal Diagnosis, Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.
authors: Ding-yuan
authors: DY
authors: Ma
authors: Ping
authors: P
authors: Hu
authors: Jing-jing
authors: JJ
authors: Zhang
authors: Long
authors: L
authors: Yi
authors: Xiu-qing
authors: XQ
authors: Ji
authors: Chi
authors: C
authors: Yang
authors: Jian
authors: J
authors: Cheng
authors: Li
authors: L
authors: Li
authors: Ying
authors: Y
authors: Lin
authors: Zheng-feng
authors: ZF
authors: Xu
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis; D005260:Female; D006801:Humans; D007621:Karyotyping; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055815:Young Adult