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Healthcare practitioners must have a solid knowledge base to both notice and evaluate genetic conditions in the neonatal period, given the expanding understanding of the magnitude of genetic problems in newborns and the equally rapid progress of instruments used for genetic diagnostics. In this cohort, early diagnosis and management of inborn metabolic abnormalities through clinical/biochemical examination and deciphering neonatal screening are critical for improved clinical outcomes. Genetic testing has become an important part of medicine, and doctors must know when it is required. In recent years, massively parallel sequencing has made significant advances in the quick diagnosis of genetic abnormalities in neonates. Next-generation sequencing is becoming more widely utilised for noninvasive prenatal diagnosis, and it may soon become a requirement for newborn screening.
