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Genetic analysis in miscarriages: What can we learn from products of conception?

Par : Contributeur(s) : Type de matériel : TexteTexteLangue : français Détails de publication : 2026. Ressources en ligne : Abrégé : Recurrent pregnancy loss (RPL) represents a major clinical challenge, often without an identified cause despite a complete medical workup. The recent integration of genetic analyses of products of conception (POC), via chromosomal microarray (CMA) or next-generation sequencing (NGS), has considerably improved the understanding of RPL. They offer an explanation in more than 90% of cases when combined with the standard workup. These technologies make it possible to distinguish embryonic losses linked to chromosomal abnormalities (aneuploidies) from maternal causes (euploidies). This distinction guides the rational use of PGT-A or PGT-SR, useful only in selected cases (advanced maternal age, repeated fetal aneuploidies, infertility, or parental karyotype abnormality). Conversely, the systematic use of PGT-A is inappropriate and not indicated in cases of euploid miscarriages. This comprehensive genetic approach helps to avoid unnecessary treatments, guides more effective management of RPL, and offers reassurance to couples seeking explanations for their loss
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Recurrent pregnancy loss (RPL) represents a major clinical challenge, often without an identified cause despite a complete medical workup. The recent integration of genetic analyses of products of conception (POC), via chromosomal microarray (CMA) or next-generation sequencing (NGS), has considerably improved the understanding of RPL. They offer an explanation in more than 90% of cases when combined with the standard workup. These technologies make it possible to distinguish embryonic losses linked to chromosomal abnormalities (aneuploidies) from maternal causes (euploidies). This distinction guides the rational use of PGT-A or PGT-SR, useful only in selected cases (advanced maternal age, repeated fetal aneuploidies, infertility, or parental karyotype abnormality). Conversely, the systematic use of PGT-A is inappropriate and not indicated in cases of euploid miscarriages. This comprehensive genetic approach helps to avoid unnecessary treatments, guides more effective management of RPL, and offers reassurance to couples seeking explanations for their loss

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