Neonatal genetics
Neonatal genetics
Neonatal genetics of a healthcare practitioners need a strong knowledge base to identify and assess genetic conditions in neonates. Early detection and management of inborn metabolic abnormalities are crucial for improved outcomes, relying on clinical and biochemical assessments, as well as neonatal screening. Genetic testing, particularly next-generation sequencing, has advanced the quick diagnosis of neonatal genetic abnormalities. Its increasing use in non-invasive prenatal diagnosis suggests a potential future role in standard newborn screening.