Recurrent pregnancy loss is a complex reproductive health problem that affects a significant proportion of women of reproductive age and is associated with substantial psychological, social, and economic burdens. Despite advances in reproductive medicine, the underlying cause remains unidentified in more than half of affected cases. This review aims to summarize current evidence regarding the etiological factors of recurrent pregnancy loss and to evaluate the role of prenatal diagnostic approaches in its investigation and management. The article discusses major contributing factors, including genetic, anatomical, endocrine, immunological, thrombophilic, and environmental influences. Furthermore, recent developments in non-invasive and invasive prenatal testing, chromosomal microarray analysis, whole-exome sequencing, parental karyotyping, and preimplantation genetic testing are reviewed. The importance of genetic counseling in supporting clinical decision-making and patient understanding is also highlighted. By integrating contemporary diagnostic technologies with multidisciplinary clinical care, prenatal diagnosis offers valuable insights into disease mechanisms and facilitates individualized management strategies. This review emphasizes the need for comprehensive evaluation and appropriate counseling to improve reproductive outcomes and reduce the emotional and financial burden experienced by affected couples.
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