Recurrent Pregnancy Loss Associated with Cytogenetic and Genetic Anomalies: A Study from Eastern India

The study investigated genetic factors associated with idiopathic recurrent early pregnancy loss (REPL) in 3,612 couples from Eastern India. It found that over 14% of idiopathic REPL cases had chromosomal heteromorphisms, with 9qh+ being the most common. These heteromorphisms were more prevalent in females, except for 14ps+. Additionally, single nucleotide variations were identified, with compound heterozygosity or allelic homozygosity being significant causal factors. The study suggests that genetic variations are present in more than 10% of REPL cases, though the exact molecular mechanisms remain unknown, highlighting the need for further research.