Genetic Testing Genetic tests are usually performed using a blood sample or a buccal swab. The DNA is extracted and then analyzed using methods like polymerase chain reaction (PCR) or next-generation sequencing (NGS) to identify genetic anomalies.
Imaging Techniques MRI and CT scans use magnetic fields and X-rays, respectively, to generate detailed images of internal structures. Ultrasound employs high-frequency sound waves to create real-time images, especially useful for assessing the brain, heart, and abdominal organs in neonates.
Biomarker Analysis Blood samples are often used to measure biomarkers. Advanced techniques like mass spectrometry can identify and quantify multiple biomarkers simultaneously, providing a comprehensive view of the infant’s metabolic state.
