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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Volume 49, Issue 4 (Apr 2011)

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Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification

Yan-Hua Deng
  • Daan Gene Diagnostic Center, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
  • Yan-Hua Deng and Ai-Hua Yin contributed equally to this work.
/ Ai-Hua Yin
  • The Prenatal Diagnosis Center, The Women and Children Hospital of Guangdong Province, Guangzhou, Guangdong, P.R. China
  • Yan-Hua Deng and Ai-Hua Yin contributed equally to this work.
/ Qiong He
  • Daan Gene Diagnostic Center, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
  • Human Anatomy Department, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
/ Jia-Chang Chen
  • Daan Gene Diagnostic Center, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
/ Yun-Shao He
  • Daan Gene Diagnostic Center, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
  • Human Anatomy Department, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
/ Hua-Qiao Wang
  • Human Anatomy Department, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
/ Ming Li
  • Daan Gene Diagnostic Center, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
/ Hua-Yun Chen
  • Daan Gene Diagnostic Center, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China
  • Email:
Published Online: 2011-02-09 | DOI: https://doi.org/10.1515/CCLM.2011.099

Abstract

Background: Obtaining fetal DNA or RNA by either chorionic villus sampling (CVS) or amniocentesis is currently, the gold standard prenatal diagnosis. However, these invasive procedures carry risk of miscarriage. A reliable method for non-invasive prenatal diagnosis (NIPD) has long been sought to reduce the risk of miscarriage.

Methods: Cell-free fetal RNA was extracted from the plasma of peripheral blood from 121 women 9–20 weeks of pregnancy. Five single nucleotide polymorphism (SNP) loci in PLAC4 gene were analyzed by reverse transcriptase multiplex ligation-dependent probe amplification (RT-MLPA), followed by capillary electrophoresis. Karyotype analysis was used for confirmation of prenatal diagnosis of trisomy 21.

Results: Of 121 samples, 23 were diagnosed with trisomy 21, 87 with normal ploidy, nine had all five SNP loci homozygous and two had one heterozygous SNP locus. Comparing with karyotype analysis, the diagnostic sensitivity and specificity of RT-MLPA were 92% and 100%, respectively.

Conclusions: RT-MLPA is a convenient and reliable method for the diagnosis of trisomy 21. We have shown that this method has good specificity, high sensitivity, and high throughput, making this technique applicable for NIPD in clinical practice.

Keywords: non-invasive prenatal diagnosis; PLAC4; RT-MLPA; SNP; trisomy 21

About the article

Corresponding author: Hua-Yun Chen, Daan Gene Diagnostic Center, Sun Yet-Sen University, Zhongshan Second Road 74, Guangzhou 510080, P.R. China Phone: +86-020-32290789-117, Fax: +86-020-32290789


Received: 2010-07-15

Accepted: 2010-09-24

Published Online: 2011-02-09

Published in Print: 2011-04-01


Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2011.099. Export Citation

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