title: [Rapid and high-throughput multiplex ligation-dependent probe amplification for diagnosis of chromosome aneuploidy].
abstract: OBJECTIVE
  To assess the diagnostic value of multiplex ligation-dependent probe amplification (MLPA) for detection of common chromosome aneuploidy in amniotic fluid (AF) cells in order to obtain an accurate, rapid, cost-effective and high-throughput method in routine prenatal clinical practice.
  
  
  METHODS
  The MLPA test was performed on 500 AF samples by using kit P095 and the results were obtained by using analysis software RH-MLPA-v511. The results were compared with that from fluorescence in situ hybridization (FISH) and traditional karyotyping (TK). The technical critical issues were analyzed in routine diagnostic application.
  
  
  RESULTS
  The absolute specificity and sensitivity of the MLPA test to detect the aneuploidy were 100%. For the 500 AF samples, the success rate of the MLPA tests was 97%. Among them 92% were finished within three working days and 5% required more days for repeating. The test failure rate was 3%. The results confirmed that for the 38 detectable aneuploid samples, the probe reliability weighted mean ratio values were more than 4SD compared to normal diploids and the 2 suspected trisomy samples were more than 2SD. In this study, authors analyzed hybridization efficiencies of 8 probes for chromosome 21, and the presence of a trisomy was considered if at least 4 of the 8 probes gave probe ratio of >1.3.
  
  
  CONCLUSIONS
  Thedata suggested that MLPA is a rapid, simple and reliable method for large scale testing for aneuploidy of chromosomes 13, 18, 21, X, or Y in AF. The MLPA technology is complementary to AF culture and valuable for prenatal diagnosis.
authors.affiliation: Dingli Clinical Medical School of Wenzhou Medical College, Wenzhou, Zhejiang, 325000 P. R. China.
authors.forename: Shao-hua
authors.initials: SH
authors.lastname: TANG
authors.forename: Yi-jian
authors.initials: YJ
authors.lastname: MAO
authors.forename: Xiang-nan
authors.initials: XN
authors.lastname: CHEN
authors.forename: Xue-qing
authors.initials: XQ
authors.lastname: XU
authors.forename: Fan-ni
authors.initials: FN
authors.lastname: XIE
authors.forename: Hao
authors.initials: H
authors.lastname: WU
authors.forename: Huan-zheng
authors.initials: HZ
authors.lastname: LI
authors.forename: Jian-xin
authors.initials: JX
authors.lastname: LV
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D000782:Aneuploidy; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics