Paediatric Pathology: Indispensable to Early Genetic Diagnosis: A Systematic Review

Dr. Monalisa Dash, Dr. Jugajyoti Pathi, Dr. Dhirendra Kumar Singh

Abstract: Objective: To systematically review and synthesize the evidence regarding the contribution of paediatric pathology to the early detection and accurate diagnosis of diverse genetic syndromes in infants, children, and adolescents. Background: Early and definitive diagnosis of genetic syndromes is crucial for optimizing clinical outcomes, as it enables timely, syndrome-specific interventions (e.g., dietary restriction, enzyme replacement therapy, and specialized surveillance), guides family-based genetic counselling, and prevents irreversible secondary complications. Paediatric pathology, encompassing diverse disciplines?from biochemical genetics to molecular diagnostics?serves as the critical laboratory arm in bridging a child's clinical presentation with the underlying molecular etiology1. Methods: A systematic search was conducted across major electronic databases (MEDLINE, Embase, Scopus, Cochrane Library) using a comprehensive search strategy that combined terms such as paediatric pathology, genetic syndromes, early diagnosis, new-born screening, molecular pathology, biopsy, and specific syndrome categories. Studies were included if they detailed the use of a pathology discipline in the initial diagnostic workflow for a genetic syndrome in patients 1-18 years. Data were extracted on study design, pathology technique used, diagnostic yield, and time to diagnosis. The methodological quality of included studies was assessed using validated tools (e.g., QUADAS-2, NOS). Results: A total of 16 studies were included in the final synthesis. The review highlights the foundational role of Clinical Pathology through New-born Screening (NBS) in identifying numerous metabolic and endocrine syndromes early in life2, 3. Cytopathology and Molecular Genetics demonstrated the highest diagnostic utility, with Chromosomal Microarray (CMA) consistently showing a 15%-20% diagnostic yield as a first-tier test for unexplained developmental delay4. Furthermore, Rapid Whole-Exome Sequencing (rWES) showed a profound impact in acute care settings, achieving a molecular diagnosis in 40%-60% of critically ill neonates, significantly reducing the diagnostic time from months to days5. Anatomic Pathology (AP) of placental or tissue biopsy samples often provided the initial morphological clues (e.g., storage material, dysmorphic findings) that prompted definitive genomic testing, particularly for challenging cases like Lysosomal Storage Disorders and tumour predisposition syndromes6. Conclusion: Paediatric pathology is an indispensable component of the early detection pathway for genetic syndromes. The integration of traditional pathological findings (e.g., anatomical and biochemical) with high-resolution genomic techniques (e.g., CMA and NGS) is paramount to enhancing diagnostic speed and accuracy. Continuous efforts to streamline access to advanced pathology services are essential to ensure the best possible start for children with inherited disorders.

Keywords: Paediatric pathology, Syndromes, Early diagnosis, Clinical pathology

How to Cite?: Dr. Monalisa Dash, Dr. Jugajyoti Pathi, Dr. Dhirendra Kumar Singh, "Paediatric Pathology: Indispensable to Early Genetic Diagnosis: A Systematic Review", Volume 14 Issue 10, October 2025, International Journal of Science and Research (IJSR), Pages: 1028-1031, https://www.ijsr.net/getabstract.php?paperid=SR251017190911, DOI: https://dx.doi.org/10.21275/SR251017190911