Diagnosing congenital conditions often involves a combination of methods:
Prenatal screening: Tests such as ultrasound, amniocentesis, and chorionic villus sampling (CVS) can detect certain congenital abnormalities before birth. Newborn screening: After birth, many countries have standardized screening programs to detect conditions like PKU, congenital hypothyroidism, and cystic fibrosis. Genetic testing: This can identify chromosomal abnormalities or specific genetic mutations associated with congenital conditions. Clinical examination: Physical examination by a healthcare professional can identify structural abnormalities and other signs of congenital conditions.
