Clinico-etiological spectrum of Neonatal Cholestasis in the Era of Next Generation Sequencing Spectrum of neonatal cholestasis
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Abstract
BACKGROUND: Neonatal cholestasis (NC) is a complex disease that poses a diagnostic challenge to paediatricians. A significant proportion of NC patients remain idiopathic even after a detailed evaluation. However, with the availability of next generation sequencing (NGS), the etiological spectrum is changing with identification of more genetic and metabolic disorders. This study aimed to identify the aetiology and outcome of NC involving NGS.
METHOD: A prospective cohort study was conducted at the department of Pediatrics at a tertiary care centre from central India from April 2021 to December 2023. Children from birth through 1 year presenting with cholestasis were included. Details of history, examination and investigations including NGS were recorded in a study proforma.
RESULT: We included a total of 106 infants of which 62 (58%) were male. Biliary atresia was the most common cause seen in 33 (31%) children followed by preterm multifactorial in 21 (20%) children. NGS was performed in 16 children, where disease causing mutations were identified in 13 (81%) [Homozygous in 10 (62.5%), heterozygous in 3 (18.75%) and no mutation in 3 (18.75%)]. A small proportion was found to have idiopathic 18 (17%) and transient neonatal cholestasis 15 (14%).
CONCLUSION: Biliary atresia remains the most common cause of NC. A meticulous workup is required to ascertain the other causes of NC. NGS may help to identify the causes of NC providing a definitive diagnosis, aiding in treatment and prognosis.
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