What is NIPT?
Non-invasive prenatal testing (NIPT), also called cell-free DNA screening, analyses cell-free DNA in a pregnant person’s blood. Much of the pregnancy-related cell-free DNA originates from the placenta. The test estimates the chance of selected chromosome conditions in the pregnancy.
Frequently asked questions about NIPT
Key points
- NIPT is screening, not diagnosis.
- The panel determines which conditions are assessed.
- High-risk results usually require confirmatory diagnostic evaluation.
When can it be performed?
Many validated cell-free DNA screening tests can be performed from about 10 weeks of pregnancy. The exact gestational-age requirement depends on the assay used.
What does it commonly screen for?
Depending on the panel, NIPT commonly screens for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). Some assays also assess sex-chromosome aneuploidies or other conditions. The report should state exactly what was screened.
Is NIPT diagnostic?
No. NIPT is a screening test. It is highly effective for common fetal aneuploidies, but false-positive and false-negative results can occur. A high-risk result should not be treated as a confirmed fetal diagnosis.
What happens after a high-risk result?
Genetic counselling, detailed clinical review and diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis may be offered depending on gestational age and the condition suspected.
Does a low-risk result guarantee a healthy baby?
No. A low-risk result substantially reduces the chance of the screened conditions but does not exclude all chromosomal, genetic, structural or developmental conditions. Routine antenatal care and ultrasound remain important.
This resource is for general education and does not replace individual medical, genetic, legal or laboratory advice.
Clinical reference sources
- ACOG \u2014 Current Guidance: Cell-Free DNA/NIPT
- ACOG \u2014 Prenatal Genetic Screening Tests
- ASRM \u2014 The Use of PGT-A: Committee Opinion (2024)
- ASRM \u2014 Indications and Management of PGT-M
- NCI \u2014 Genetic Testing Fact Sheet
- NCI \u2014 BRCA Gene Changes: Cancer Risk and Genetic Testing
- AABB \u2014 DNA Relationship Testing FAQs
- AABB \u2014 Standards for Relationship Testing Laboratories
Considering NIPT during your pregnancy?
Speak with our genetics team for personalized counselling.