Non-invasive prenatal detection of fetal aneuploidies by cell-free DNA, also called non-invasive prenatal testing (NIPT) and non-invasive prenatal screening (NIPS), is a method of non-invasive fetal DNA testing done through a maternal blood sample. NIPT testing for common aneuploidies, microdeletions and sex chromosome disorders is clinically available to patients in Canada. NIPT is a highly sensitive and specific screening test, but is not diagnostic. Even in high-risk populations, there can be false positive NIPT results. Genetic counselling, along with confirmatory testing via amniocentesis or chorionic villus sampling, should be done prior to using the result to impact management of a pregnancy.
Conditions: Aneuploidies, microdeletions, sex chromosome disorders
Diagnostic Tests: Cell-free DNA, Non-invasive prenatal testing (NIPT)
Procedures: Amniocentesis, chorionic villus sampling
Treatments: Genetic counselling
Sources