Description
Why It’s Done
This test is performed to:
• Diagnose chromosomal disorders such as Down syndrome (Trisomy 21), Turner syndrome, Klinefelter syndrome, Trisomy 18, and other aneuploidies.
• Investigate physical abnormalities, developmental delays, or ambiguous genitalia observed at birth.
• Identify hereditary genetic conditions early for better management and treatment planning.
• Provide genetic information that may help guide future family planning or counseling.
It is also used when:
• There is a family history of genetic disorders.
• Abnormalities were detected in prenatal screening or ultrasound.
• A baby has multiple birth defects or dysmorphic features.
Preparation
• No special preparation is needed from the newborn or parents.
• A blood sample is collected from the newborn, typically from a vein or heel prick.
• Ensure the healthcare provider is informed of any family genetic history or prenatal findings.
