NIPT is a highly sensitive screening test performed during pregnancy.

It uses cell-free fetal DNA (cfDNA) found in maternal blood to detect chromosomal abnormalities.

Clinical uses include:

Screening for trisomy 21 (Down syndrome).

Screening for trisomy 18 (Edwards syndrome).

Screening for trisomy 13 (Patau syndrome).

Detecting abnormalities in sex chromosomes (e.g., Turner syndrome, Klinefelter syndrome).

The test is safe, non-invasive, and can be performed as early as 10 weeks of gestation.

It is a screening test, not a diagnostic test — abnormal results are usually confirmed with amniocentesis or chorionic villus sampling (CVS).

Analyte: Cell-free fetal DNA fragments in maternal blood.

Normal Result: No chromosomal abnormalities detected.

Abnormal Result: Suggests possible trisomy or sex chromosome abnormality → requires confirmatory testing.

Clinical Use:

Provides early risk assessment for chromosomal disorders.

Reduces need for invasive procedures in low-risk pregnancies.

Guides further diagnostic and management decisions in prenatal care.