Meiotic Abnormalities and their clinical significance in human Reproduction

Abstract

The thesis is a review of meiotic abnormalities and their clinical significance in human reproduction. It the normal course of meiosis and the mechanisms which can lead to either numerical or structural chromosomal abnormalities. Clinically, meiotic abnormalities are a leading cause of infertility, recurrent pregnancy loss, implantation failure, and congenital chromosomal disorders. Advanced maternal age is the strongest risk factor, on the other hand advanced paternal age has a weaker effect. Diagnosis approaches including parental karyotyping, first-trimester combined screening, NIPT, invasive testing with karyotyping or microarray, and PGT in IVF cycles. Since most errors are sporadic, prevention focuses on preconception counseling, carrier identification, antenatal screening and PGT, supported by non-directive genetic counseling and individualized, multidisciplinary management. By understanding the mechanisms, risk factors, clinical consequences, and available diagnostic and management tools enables more effective counseling, earlier detection, and improved outcomes for affected individuals and families.