Publications by authors named "Marton Konya"
Article Synopsis
- Genome-Wide Non-Invasive Prenatal Testing (GW-NIPT) can detect not just common chromosomal abnormalities but also rare autosomal trisomies and structural chromosomal issues, though data on their predictive value is limited.
- The study analyzed 17 publications covering 740,076 cases to assess the accuracy of GW-NIPT for rare abnormalities, utilizing both confirmed and extended methodologies to define true positive cases.
- Findings highlighted that T16, T22, and T15 had the highest rates of true positives, providing essential insights for genetic counseling and improving decision-making for patients and healthcare providers.
Introduction: The incidence of infertility caused by diminished ovarian reserve has become a significant problem worldwide. The beneficial effect of PRP treatment of the ovaries has already been described, but the high-level evidence of its effectiveness has not yet been proven.
Materials And Methods: A systematic search was performed in five databases, until March 12th, 2024.
Application of preimplantation genetic diagnosis makes it possible to transfer only embryos unaffected by a certain genetic disorder. The authors have applied the combination of trophectoderm biopsy and vitrification in order to detect a monogenic disorder. Previously diagnosed type 1 neurofibromatosis of the woman was the indication for genetic examination.
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