title: [Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies and structural chromosomal abnormalities in prenatal diagnosis].
abstract: OBJECTIVE
  To explore the value of multiplex ligation-dependent probe amplification (MLPA) for rapid detection of aneuploidies and structural chromosomal abnormalities during prenatal diagnosis.
  
  
  METHODS
  Two hundred and eight six amniotic fluid samples were analyzed with both MLPA and conventional karyotyping. Structural abnormalities were verified with array comparative genomic hybridization.
  
  
  RESULTS
  Ten cases of trisomy 21, 2 cases of trisomy 18, 1 case of trisomy 13, 1 case of mosaic trisomy 21, 1 case of 45,X, 1 case of large deletion of Xp, 1 case of trisomy 18p and 1 case of large deletion of 18p and 18q were identified. The same results were derived by both MLPA and conventional karyotyping. Structural abnormalities were verified by array comparative genomic hybridization (aCGH) with 100% accuracy.
  
  
  CONCLUSIONS
  In addition to aneuploidies, MLPA can rapidly identify large deletions and duplications of chromosomes 21, 18, 13, X and Y. MLPA is supplementary to conventional karyotyping for identification of such chromosomal abnormalities prenatal diagnosis.
authors: Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, P.R. China. njxzf@126.com; dingyuanma2002@yahoo.com.cn.
authors: Jingjing
authors: J
authors: Zhang
authors: Ping
authors: P
authors: Hu
authors: Chunyu
authors: C
authors: Luo
authors: Qiuqing
authors: Q
authors: Ji
authors: Jing
authors: J
authors: Zhou
authors: An
authors: A
authors: Liu
authors: Dingyuan
authors: D
authors: Ma
authors: Zhengfeng
authors: Z
authors: Xu
mesh_terms: D000328:Adult; D000782:Aneuploidy; D005260:Female; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult