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A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy assay and impact of biopsy

      Objective

      To determine the predictive value of an aneuploid diagnosis with a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy (PGT-A) assay in prognosticating the failure of a successful delivery.

      Design

      Prospective, blinded, multicenter, nonselection study. All usable blastocysts were biopsied, and the single best morphologic blastocyst was transferred before genetic analysis. Preimplantation genetic testing for aneuploidy was performed after clinical outcome was determined. Clinical outcomes were compared to PGT-A results to calculate the predictive value of a PGT-A aneuploid diagnosis.

      Setting

      Fertility centers.

      Patient(s)

      Couples undergoing their first in vitro fertilization cycle without recurrent pregnancy loss, antral follicle count < 8, or body mass index ≥ 35 kg/m2.

      Intervention(s)

      None.

      Main Outcome Measure(s)

      The primary outcome was the ability of the analytical result of aneuploid to predict failure to deliver (clinical result). A secondary outcome was the impact of the trophectoderm biopsy on sustained implantation.

      Result(s)

      Four hundred two patients underwent 484 single, frozen, blastocyst transfers. The PGT-A aneuploid diagnosis clinical error rate was 0%. There was no difference in sustained implantation between the study group and an age-matched control group, where biopsy was not performed (47.9% vs. 45.8).

      Conclusion(s)

      The PGT-A assay evaluated was highly prognostic of failure to deliver when an aneuploid result was obtained. Additionally, the trophectoderm biopsy had no detectable adverse impact on sustained implantation.

      Clinical Trial Registration Numbers

      NCT02032264 and NCT03604107.
      Estudio multicéntrico, prospectivo, ciego, no selectivo, evaluando el valor predictivo de un diagnóstico de aneuploidías usando un test genético preciso preimplantacional basado en la secuenciación de nueva generación (NGS) para el análisis de las aneuploidías y del impacto de la biopsia.

      Objetivo

      Determinar el valor predictivo de un diagnóstico de aneuploidías con un test genético preciso de preimplantación para análisis de aneuploidía (PGT-A) basado en la secuenciación de nueva generación para pronosticar el fracaso de un nacimiento.

      Diseño

      Estudio prospectivo, ciego, multicéntrico, no selectivo. Todos los blastocistos utilizables fueron biopsiados y el mejor blastocisto morfológico fue transferido antes del análisis genético. El test genético preimplantacional para aneuploidías fue realizado después de determinar el resultado clínico. Los resultados clínicos fueron comparados con los resultados del PGT-A para calcular el valor predictivo del diagnóstico de aneuploidías mediante PGT-A.

      Ubicación

      Centros de fertilidad.

      Paciente(s)

      Parejas realizando su primer ciclo de fertilización in vitro sin abortos recurrentes, número de folículos antrales < 8, o índice de masa corporal ≥ 35 kg/m2.

      Intervención(es)

      Ninguna.

      Principales medidas de Resultados

      El resultado principal fue la capacidad de predicción mediante el resultado analítico de predecir el fracaso en el nacimiento. El resultado secundario fue el impacto de la biopsia de trofoectodermo sobre la implantación.

      Resultado(s)

      Cuatrocientas dos pacientes recibieron 484 transferencias de un blastocisto congelado. La tasa de error clínico del diagnóstico de aneuploidía mediante PGT-A fue de 0%. No hubo diferencia en la implantación sostenida entre el grupo de estudio y un grupo control de la misma edad, donde no se realizó biopsia (47,9% vs 45,8).

      Conclusión(es)

      El análisis PGT-A evaluado fue altamente predictivo respecto al fracaso de los nacimientos cuando se obtuvo un resultado aneuploide. Adicionalmente, la biopsia de trofoectodermo no tuvo un impacto adverso detectable en la implantación sostenida.

      Key Words

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