NIPT is a non-invasive prenatal screening test performed using a maternal blood sample from the 10th week of pregnancy. It analyzes placental cell-free fetal DNA (cfDNA) present in maternal blood to assess the risk of specific chromosomal abnormalities in the fetus.
Using next-generation sequencing (NGS) technology based on whole-genome sequencing (WGS), NIPT helps assess chromosomal aneuploidies, particularly trisomies of chromosomes 13, 18, and 21. Depending on the test scope, numerical abnormalities in the sex chromosomes and other autosomes, as well as chromosomal deletions and duplications, may also be assessed.
NIPT helps identify pregnancies at increased risk and supports clinical decision-making in pregnancy management.
NIPT is a screening test and not a diagnostic test. Positive or high-risk results should be evaluated in the clinical context and, when necessary, confirmed using invasive prenatal diagnostic methods such as CVS (chorionic villus sampling) or amniocentesis (see Prenatal Tests). A negative result does not mean that all chromosomal or genetic abnormalities have been definitively excluded.
| Feature | Details |
|---|---|
| Method | NGS – Whole-Genome Sequencing (WGS) |
| Scope | All autosomes and sex chromosomes; ≥7 Mb deletions and duplications |
| Sample Requirements | Maternal peripheral whole blood, 7–10 mL |
| Testing Time | From the 10th week of pregnancy |
| Turnaround Time | 10–15 days |
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