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Clinical Chemistry and Laboratory Medicine (CCLM)

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

Editor-in-Chief: Plebani, Mario

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

Yan-Hua Deng1, a / Ai-Hua Yin3, a / Qiong He1, 2 / Jia-Chang Chen1 / Yun-Shao He1, 2 / Hua-Qiao Wang2 / Ming Li1 / 1

1Daan Gene Diagnostic Center, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China

2Human Anatomy Department, Sun Yet-Sen University, Guangzhou, Guangdong, P.R. China

3The Prenatal Diagnosis Center, The Women and Children Hospital of Guangdong Province, Guangzhou, Guangdong, P.R. China

aYan-Hua Deng and Ai-Hua Yin contributed equally to this work.

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

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 49, Issue 4, Pages 641–646, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2011.099, February 2011

Publication History

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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

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