Hours not weeks: rapid molecular diagnostics for congenital TORCH infections: reshaping neonatal outcomes
Abstract
Congenital TORCH infections caused by Toxoplasma gondii, other agents (such as Treponema pallidum and hepatitis B virus), rubella virus, cytomegalovirus (CMV), and herpes simplex virus (HSV), which pose a persistent threat to neonatal health worldwide, especially in low- and middle-income countries where morbidity, developmental impairment, and infant mortality remain high. Early and accurate diagnosis is vital for guiding prompt treatment, yet traditional methods like serology and culture suffer from limited sensitivity, slow turnaround, and sample volume constraints, particularly in neonates. This review synthesizes recent advances in molecular diagnostics highlighting real-time and multiplex PCR, digital droplet PCR, nested PCR, loop-mediated isothermal amplification, and metagenomic next-generation sequencing which vastly improve sensitivity, specificity, and speed in detecting congenital infections from minimal patient samples. These technologies now enable rapid, comprehensive, and actionable diagnosis, supporting the paradigm shift toward precision neonatal care. Technological challenges and pre-analytical issues are addressed, alongside recommendations for integrating molecular platforms into clinical algorithms to optimize outcomes for at-risk newborns. The review concludes that adoption of advanced molecular diagnostics is revolutionizing neonatal infection management facilitating early intervention, reducing sequelae, and markedly enhancing the prospects for survival and neurodevelopment in neonate.