O-237 A non-invasive approach for aneuploidy analysis in clinical miscarriages

Abstract Study question Is maternal cell-free DNA (cfDNA) testing a feasible alternative to the analysis of the product of conception (POC) in clinical miscarriages? Summary answer This study demonstrates that genome-wide cfDNA testing in the maternal bloodstream constitutes a reliable tool to analy...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2021-08, Vol.36 (Supplement_1)
Main Authors: Cuenca, N. Balaguer, Rodrigo, L, Mateu-Brull, E, Campos-Galindo, I, Al-Asmar, N, Rubio, C, SImón, C, Milán, M
Format: Article
Language:English
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Summary:Abstract Study question Is maternal cell-free DNA (cfDNA) testing a feasible alternative to the analysis of the product of conception (POC) in clinical miscarriages? Summary answer This study demonstrates that genome-wide cfDNA testing in the maternal bloodstream constitutes a reliable tool to analyse chromosome aneuploidies in clinical miscarriages. What is known already It is well established that 50-70% of clinical miscarriages are caused by numerical chromosomal anomalies (aneuploidies), mostly trisomies. To date, conventional cytogenetic and advanced molecular techniques are used for the analysis of POC to identify the genetic cause of miscarriage, providing valuable information for genetic counselling. However, both approaches are based in the direct analysis of the abortive tissue, which entails several limitations due to the risk of culture failure and/or maternal cell contamination. To solve these drawbacks, maternal cfDNA testing emerges as a promising alternative due to the accumulated evidence. Study design, size, duration This was a retrospective study conducted in a reference genetic laboratory from January to December 2020. Before carrying out the foetal tissues collection that precludes the POC analysis, a blood sample was drawn to evaluate possible aneuploidies by cfDNA testing. Using NGS+STR POC results as the gold standard, results derived from both studies were compared to assess the percentage of concordance and the cases of non-informativeness (foetal fraction (FF)
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/deab128.061