Diagnosing genetic anomalies typically involves a combination of clinical evaluation, family history, and specialized tests. Common diagnostic methods include:
Prenatal Screening: Tests like ultrasound and amniocentesis can detect genetic anomalies before birth. Newborn Screening: Blood tests performed shortly after birth can identify certain genetic disorders early. Genetic Testing: Techniques such as karyotyping, DNA sequencing, and microarray analysis are used to identify specific genetic changes. Clinical Evaluation: A thorough physical examination and assessment of developmental milestones can provide clues to underlying genetic conditions.
