Publications by authors named "C De Miguel Benadiva"

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic HMs, including a familial case of 3 affected members. Five of these genes are essential for meiosis I, and their deficiencies lead to premature ovarian insufficiency.

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Objective: To compare the euploidy rates among blastocysts created from sibling oocytes injected with sperm and processed using microfluidics or density gradient centrifugation.

Design: Sibling oocyte randomized controlled trial.

Setting: Single university-affiliated infertility practice.

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Article Synopsis
  • Hyperprolactinemia is prevalent in infertile women, affecting 15%-20% of those with irregular menstrual cycles.
  • The condition can cause infertility by suppressing the hormonal signals necessary for reproduction through the disruption of the hypothalamic-pituitary-gonadal axis.
  • Macroprolactinemia, characterized by a high presence of large prolactin molecules (macro-PRL), is seen in up to 46% of hyperprolactinemia cases and can lead to misdiagnosis and inappropriate treatments.
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Purpose: The purpose of this study was to determine the impact of body mass index (BMI) on euploidy rates for in vitro fertilization (IVF) cycles with preimplantation genetic testing (PGT) utilizing primarily next-generation sequencing (NGS).

Methods: This retrospective cohort study included women aged ≤ 45 years who underwent IVF/PGT between September 2013 and September 2020 at a single university-affiliated fertility center. The primary outcome was euploidy rate.

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Article Synopsis
  • The study evaluated pregnancy outcomes in letrozole ovulation induction versus natural and programmed frozen-thawed embryo transfer (FET) cycles among women in the U.S.
  • The results indicated that ongoing pregnancy and live birth rates were higher for letrozole FETs compared to programmed FETs, while being similar to natural FET outcomes.
  • Additionally, the clinical loss rates were lower in the natural FET group compared to programmed FETs, highlighting the advantages of letrozole and natural FETs in improving clinical outcomes.
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