Laboratory Evaluation of Infertility-An Updated Review
Abstract
Background: Infertility is a significant global public health issue affecting approximately 15% of couples worldwide. Female fertility declines with advancing age due to progressive reduction in ovarian reserve and oocyte quality, while male, anatomical, endocrine, genetic, and environmental factors further contribute to reproductive failure. Accurate laboratory evaluation is central to identifying the underlying causes and guiding effective management.
Aim: This review aims to provide an updated and comprehensive overview of the laboratory evaluation of infertility, emphasizing hormonal, semen, genetic, and biochemical assessments while highlighting methodological considerations and clinical relevance.
Methods: A narrative review of current laboratory practices in infertility evaluation was conducted. The article synthesizes evidence on endocrine testing, ovarian reserve assessment, ovulatory function, semen analysis, genetic screening, immunoassay methodologies, and interfering factors affecting test accuracy.
Results: Laboratory evaluation plays a pivotal role in infertility diagnosis, particularly through assessment of the hypothalamic–pituitary–ovarian axis, ovarian reserve markers (AMH, FSH, AFC), luteal progesterone levels, and comprehensive semen analysis. Immunoassays remain the mainstay of hormone testing, although interference from heterophilic antibodies, cross-reactivity, and preanalytical variables may compromise results. Advanced techniques such as LC–MS/MS improve analytical accuracy in selected cases. Genetic testing and quality control mechanisms further enhance diagnostic precision and clinical decision-making.
Conclusion: An integrated laboratory approach, supported by rigorous quality control and awareness of assay limitations, is essential for accurate infertility evaluation. Tailored laboratory investigations enable personalized treatment strategies and improved reproductive outcomes.
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Copyright (c) 2025 Jamal Yahya Abu Haydar, Badr Amer Alhrbi, Samar Ahmad Breagesh, Noor Hassan Almubarak, Khlood Abdu Ali Dagreery, Ahmed Munawwar Eid Al, Areej Saud Albalaw, Shaheerah Mashial Alsulami, Khaled Abdulrahman Mohammed Ali, Alqasim Ali Ahmed Alneami, Abdulaziz Muqbil Faleh Alharbi, Aimn Mohammed Abdu Alsadi
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