Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Journal Title: International Journal of Experimental Research and Review - Year 2024, Vol 37, Issue 1
Abstract
Recurrent early pregnancy loss (REPL) refers to loss (2 or more) of pregnancy within the first trimester of the gestation period. Reports of REPL cases are significantly increasing along with idiopathic or enigmatic REPL because associated clinical parameters in such cases remain within normal range and diagnosis remains odyssey. Genetic factors like single nucleotide variations (SNV) and altered heterochromatin and/or satellite content, as chromosomal aberrations like translocation, deletion and inversions have reportedly remained associated with many diseases. The present study aimed to find any structural and single nucleotide variations associated with idiopathic REPL. Three thousand six hundred twelve (3612) couples with history of 2 or more pregnancy losses or neonatal death were subjected to clinical investigations, karyotype analyses and Whole Exome Sequence analyses as per requirement to identify the underlying cause(s). More than 14% of the idiopathic REPL cases were found to carry chromosomal heteromorphisms. Among these, 9qh+ was predominant, followed by 21ps+, 15ps+, 14ps+ and others. Heteromorphies were significantly higher in females than males except for 14ps+. Along with some single nucleotide variations were also found among the subjects, though compound heterozygosity or allelic homozygosity were major causal factors. Idiopathic REPL cases were found to carry genetic variations, as per the present study, with a prevalence of more than 10% among RPL cases with yet unknown molecular mechanisms of damage. A further thorough study to unveil the underlying molecular pathology is strongly recommended.
Authors and Affiliations
Koutilya Bhattacharjee, Suman Pal, Emili Banerjee, Dr, Shiuli Mukherjee, Dr
Keywords
Related Articles
- EP ID EP733351
- DOI 10.52756/ijerr.2024.v37spl.007
- Views 44
- Downloads 0
Evaluation of Antioxidant, Anti-inflammatory and Antimicrobial Potential of Aegel marmelos Fruit Pulp Extracts against Clinical Pathogens
In India, a wide range of medicinal plants are reported. Since ancient times, these medicinal plants have been used by people for the treatment of several diseases. Herbal medicines typically have fewer side effects comp...
Smart Maintenance of Railway Infrastructure Using Wireless Sensor Networks
The railway infrastructure is a perfect blend of all branches of engineering. Technology has drastically increased, mainly in the Signalling, Civil, Electrical and Mechanical engineering streams. In the field of Signalli...
Pervasiveness of work-related Musculoskeletal Disorders on Indian construction workers
Indian construction involves a large number of organized and unorganized workers. There is always a risk of accidents, injuries and disability due to working in an awful, inconvenient workplace and unfavourable condition...
Okara–by-product from soy processing: characteristic, properties, benefits, and potential perspectives for industry
A by-product from processing of soy into drinksand tofu is the insoluble portion of soybeans, a high-fiber product called okara. With the growing interest in plant substitutes for meat and milk, which are produced...
The Classification and Segmentation of Pneumonia using Deep Learning Algorithms: A Comparative Study
The paper uses convolutional neural networks (CNNs) to analyze radiography pictures and discriminate between areas afflicted by pneumonia and normal lung tissue. A sizable dataset of annotated chest X-rays is used to tr...