PMID- 21462135
OWN - NLM
STAT- MEDLINE
DCOM- 20110531
LR  - 20110404
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 28
IP  - 2
DP  - 2011 Apr
TI  - [Rapid and high-throughput multiplex ligation-dependent probe amplification for 
      diagnosis of chromosome aneuploidy].
PG  - 199-203
LID - 10.3760/cma.j.issn.1003-9406.2011.02.017 [doi]
AB  - 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. CONCLUSION: 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.
FAU - TANG, Shao-hua
AU  - TANG SH
AD  - Dingli Clinical Medical School of Wenzhou Medical College, Wenzhou, Zhejiang, 
      325000 P. R. China.
FAU - MAO, Yi-jian
AU  - MAO YJ
FAU - CHEN, Xiang-nan
AU  - CHEN XN
FAU - XU, Xue-qing
AU  - XU XQ
FAU - XIE, Fan-ni
AU  - XIE FN
FAU - WU, Hao
AU  - WU H
FAU - LI, Huan-zheng
AU  - LI HZ
FAU - LV, Jian-xin
AU  - LV JX
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 21
MH  - Female
MH  - Humans
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/methods
MH  - Sensitivity and Specificity
MH  - Trisomy/diagnosis/genetics
EDAT- 2011/04/05 06:00
MHDA- 2011/06/01 06:00
CRDT- 2011/04/05 06:00
PHST- 2011/04/05 06:00 [entrez]
PHST- 2011/04/05 06:00 [pubmed]
PHST- 2011/06/01 06:00 [medline]
AID - 940628040 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2011.02.017 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):199-203. doi: 
      10.3760/cma.j.issn.1003-9406.2011.02.017.