NonInvasive prenatal testing (NIPT), also known as noninvasive prenatal screening (NIPS), is a method of detecting certain genetic abnormalities in a fetus including Down syndrome. It utilizes small DNA fragments that are circulating in pregnant women. Unlike the DNA present within the cell nucleus, these DNA are free floating, thus called cell-free DNA (cfDNA).
The following chromosomal abnormalities can be analyzed by NIPT.
- Down syndrome (trisomy 21, caused by an extra chromosome 21)
- trisomy 18 (caused by an extra chromosome 18)
- trisomy 13 (caused by an extra chromosome 13)
- Extra or missing copies of the X chromosome and Y chromosome (the sex chromosomes).