What It Is
Non-invasive prenatal testing, commonly abbreviated as NIPT, is a screening test performed during pregnancy that analyzes small fragments of the developing baby's genetic material found circulating in the mother's blood.
What It Checks
During pregnancy, small fragments of the placenta's genetic material, which generally reflects the baby's own genetic material, naturally circulate in the mother's bloodstream. NIPT analyzes these fragments to screen for the likelihood of certain common chromosomal conditions.
Why It's Used
NIPT is commonly used as a screening tool, generally offered to assess the likelihood of certain chromosomal conditions, without carrying the small procedural risks associated with more invasive diagnostic tests like amniocentesis or CVS. Because it's a screening test rather than a definitive diagnostic test, a result suggesting increased likelihood is generally followed up with a more definitive diagnostic test if confirmation is wanted.
How It's Done
NIPT requires only a standard blood sample from the mother, typically drawn from a vein in the arm, and can generally be performed from a fairly early stage of pregnancy onward. The blood sample is sent to a specialized laboratory, where the fragments of genetic material are analyzed using advanced genetic sequencing techniques.
Background
The discovery that fragments of a baby's genetic material could be detected circulating in the mother's blood was made in the late 1990s, and it took roughly another decade of further research and technological development in genetic sequencing before NIPT became a practical, widely available clinical test in the early 2010s. Since its introduction, NIPT has become an increasingly common part of prenatal screening, valued for providing meaningful information through a simple blood test with no procedural risk to the pregnancy.