Diagnosis typically involves a combination of prenatal and postnatal screening methods:
Prenatal Screening - Includes techniques like amniocentesis and chorionic villus sampling (CVS) to detect genetic abnormalities before birth. Newborn Screening - Involves tests performed shortly after birth, such as blood tests and hearing tests, to identify genetic disorders early. Genetic Testing - Molecular tests, such as whole-exome sequencing, can be used to confirm a suspected diagnosis.
