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Updated: Jul 17, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
External quality assessment of rapid prenatal detection of numerical chromosomal aberrations using molecular genetic
S C Ramsden1, K Mann, C McConnell
1National Genetics Reference Laboratory (Manchester), Department of Medical Genetics, Saint Mary's Hospital, Hathersage Road, Manchester M13 OJH, UK. simon.ramsden@cmmc.nhs.uk
Objectives:
Prenatal diagnosis using rapid molecular genetic techniques is now a widely used method for detecting the most prevalent chromosomal aneuploidies. The object of this work was to develop a methodology for delivering external quality assessment (EQA) appropriate to the needs of routine diagnostic testing laboratories.
Methods:
We have provided three rounds of EQA using 15 different samples over 3 years. The scheme has developed to assess both the genotyping accuracy of the results and the appropriateness of the clinical reports issued to the referring clinician.
Results:
Participation in the EQA scheme has increased from 9 to 27 laboratories from across Europe over the three sample distributions. All laboratories have used quantitative fluorescence-PCR (QF-PCR) to analyse these samples except for a sole participant in 2006 who used multiplex ligation-dependent probe amplification (MLPA). In total 265 samples have been distributed, of which four (1.5%) were not reported due to technical failures and one (0.4%) was reported incorrectly and must be regarded as a genotyping error.
Conclusions:
We have demonstrated a significant and increasing demand for EQA in the rapid detection of aneuploidies in UK and other European laboratories. Using the methodologies described, we have had a very low rate of technical failures and demonstrated a high level of genotyping accuracy. However, the quality of the clinical reports was variable and suggestions are made for improvement.
