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Updated: May 16, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Biomarker development for non-invasive prenatal diagnosis of fetal aneuploidies: predictive reliability and potential
Aggeliki Kolialexi1, Athanasios K Anagnostopoulos, Georgia Tounta
1Department of Medical Genetics, Aghia Sofia Children's Hospital, Athens University School of Medicine, Thivon & Levadias, 115 27 Athens, Greece.
Abstract:
Current non-invasive prenatal diagnosis for fetal aneuploidies is based on biochemical and ultrasound markers and needs to be improved in order to reduce the number of pregnant women subjected to invasive diagnostic procedures. Proteomic technologies allow for new strategies for discovering biomarkers in complex biological fluids in a high-throughput and sensitive manner. Application of advance proteomic tools to profile pathology-specific proteins in maternal plasma obtained from pregnancies with aneuploid fetuses revealed biomarker-candidates that can potentially revolutionize the diagnostic and treatment procedure in favor of better prediction and improved individual outcomes. The current review focuses on studies of maternal peripheral blood using proteomic technologies, describes alterations noted in the presence of fetal aneuploidies and discuss their potential use as biomarkers for non-invasive prenatal diagnosis.
