title: [Application of multiplex ligation-dependent probe amplification to diagnosis and prenatal diagnosis of common aneuploidies].
abstract: OBJECTIVE
  To investigate the application value of the multiplex ligation-dependent probe amplification (MLPA) technique in diagnosis and prenatal diagnosis of chromosomes 13, 18, 21, X and Y aneuploidy.
  
  
  METHODS
  Forty-four cases including 30 peripheral blood samples, 10 fetal cord blood samples, and 4 amniotic fluid samples were collected in this study. DNA was isolated from the samples and detected by MLPA, followed by analyzing in ABI310 Genetic Analyzer. Analysis of copy number changes for chromosomes 13, 18, 21, X and Y was carried out with RH-MLPA-analysis software. The routine karyotype analyses were also done for all the samples.
  
  
  RESULTS
  Of 44 samples, the results of 42 by MLPA method was consistent with that by chromosome karyotyping. Only one case with trisomy 21 chimerism was failed to reach conclusion. In addition, one case of mark chromosome segment was identified as Y-chromosome segment by MLPA, while karyotyping failed to make judgment. The accurate rate of MLPA was 97.7% (43/44).
  
  
  CONCLUSIONS
  The MLPA technique can simultaneously detect dozens of different target sequences and their copy number changes in a single reaction. It showed high specificity, good reproducibility, was fast and high-throughput. The MLPA technique can be applied to diagnosis and prenatal diagnosis of the common chromosomal aneuploidy.
authors.affiliation: Maternal and Childrens Health Care Hospital of Liuzhou City, Liuzhou,Guangxi, 545001 P. R. China.
authors.forename: Shi-qiang
authors.initials: SQ
authors.lastname: LUO
authors.forename: Xin-ping
authors.initials: XP
authors.lastname: FAN
authors.forename: Ren
authors.initials: R
authors.lastname: CAI
authors.forename: Bai
authors.initials: B
authors.lastname: XIAO
authors.forename: Ning
authors.initials: N
authors.lastname: TANG
authors.forename: Li-rong
authors.initials: LR
authors.lastname: WANG
authors.forename: Fang-hua
authors.initials: FH
authors.lastname: YANG
authors.forename: Xin
authors.initials: X
authors.lastname: LIANG
authors.forename: Jing-zhong
authors.initials: JZ
authors.lastname: LIU
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D056915:DNA Copy Number Variations; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity
chemical_list: D004247:DNA