Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification-based real-time PCR

Clinical Chemistry
Qiwei GuoQingge Li

Abstract

Trisomies 13, 18, and 21 account for the majority of chromosomal aneuploidies detected in prenatal diagnosis. Diagnosis of these trisomies relies mainly on karyotype analysis. Several molecular methods have been developed for trisomy detection, but performance or throughput limitations of these methods currently constrain their use in routine testing. We developed multiplex ligation-dependent probe amplification-based real-time PCR (MLPA/rtPCR) to simultaneously detect these 3 trisomy conditions with a single reaction. We applied the method to DNA isolated from 144 blinded clinical samples that included 32 cases of trisomy 21, 11 cases of trisomy 18, 1 case of trisomy 13, and 100 unaffected control samples; results were compared with karyotype analysis. As judged by the results of the karyotype analysis, MLPA/rtPCR correctly detected all 44 cases of trisomy in the analysis of the blinded clinical samples. The method was able to detect a change in chromosome dosage as low as 1.2-fold. This novel PCR-based technology simultaneously identified 3 types of trisomy in a single reaction and accurately detected trisomy with mosaicism, while reducing assay times and costs compared with conventional methods. The MLPA/rtPCR approach may h...Continue Reading

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Citations

Apr 11, 2012·International Journal of Molecular Sciences·Liborio StuppiaValentina Gatta
Dec 3, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·E NavarroJ Solera
Mar 16, 2017·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Dec 1, 2015·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic
Nov 1, 2012·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Cornelia Hömig-Hölzel, Suvi Savola
Mar 16, 2017·The Cochrane Database of Systematic Reviews·S Kate AlldredZarko Alfirevic

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